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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TRANK1	9881	broad.mit.edu	37	3	36897004	36897004	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:36897004G>A	uc003cgj.3	-	11	4325	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1359					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AACCTTTCTGGGACCTGATTT	0.473000														87			14		0	0	0.001855	0	0
USP6	9098	broad.mit.edu	37	17	5050444	5050444	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:5050444C>T	uc002gau.1	+	28	4616	c.2386C>T	c.(2386-2388)Cct>Tct	p.P796S	USP6_uc002gav.1_Missense_Mutation_p.P796S|USP6_uc010ckz.1_Missense_Mutation_p.P479S	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	796					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTGAAATTCCTGTCCCTTC	0.398000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									29			16		0	0	0.004990	0	0
DGKH	160851	broad.mit.edu	37	13	42729877	42729877	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:42729877C>T	uc001uyl.2	+	4	631	c.564C>T	c.(562-564)ttC>ttT	p.F188F	DGKH_uc010tfh.2_Silent_p.F188F|DGKH_uc001uym.2_Silent_p.F188F|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.S21F|DGKH_uc001uyo.2_Silent_p.F52F|DGKH_uc010tfj.2_Silent_p.F52F|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	188					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GACCCACCTTCTGTAACGTGT	0.517000														15			18		0	0	0.006122	0	0
ADAM7	8756	broad.mit.edu	37	8	24357708	24357708	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:24357708C>T	uc003xeb.3	+	17	2054	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	ADAM7_uc003xec.3_Silent_p.L419L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	647	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gccacggaCTCCAGTGCCACT	0.428000														13			12		0	0	0.001855	0	0
TGFBI	7045	broad.mit.edu	37	5	135382121	135382121	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:135382121G>A	uc003lbf.4	+	3	557	c.396G>A	c.(394-396)atG>atA	p.M132I	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	132	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTGAGATGGAGGGGCCCG	0.622000														9			8		0	0	0.004482	0	0
COL22A1	169044	broad.mit.edu	37	8	139838959	139838959	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:139838959G>A	uc003yvd.3	-	5	1358	c.911C>T	c.(910-912)aCc>aTc	p.T304I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	304	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCCGAGAGGTTTTCCTGAA	0.512000										HNSCC(7;0.00092)				21			21		0	0	0.002780	0	0
FAM170A	340069	broad.mit.edu	37	5	118970427	118970427	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:118970427G>A	uc003ksm.2	+	2	1194	c.984G>A	c.(982-984)agG>agA	p.R328R	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.R328R|FAM170A_uc003kso.3_Silent_p.R281R	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	328						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAAAGGACAGGAAGTGAGCAA	0.552000														34			12		0	0	0.001855	0	0
PRSS12	8492	broad.mit.edu	37	4	119256633	119256633	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:119256633G>A	uc003ica.2	-	2	862	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	272						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTTACCATGGGAAAAGCTACA	0.378000														19			7		0	0	0.003080	0	0
KCNH1	3756	broad.mit.edu	37	1	210970995	210970995	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:210970995G>A	uc001hib.2	-	8	1940	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	KCNH1_uc001hic.2_Silent_p.L563L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	590					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.L590L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCAGTGCCCGGAGGCAGCCAT	0.612000														46			21		0	0	0.001523	0	0
COL4A4	1286	broad.mit.edu	37	2	227875158	227875158	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:227875158C>T	uc021vxr.1	-	44	4494	c.4393G>A	c.(4393-4395)Ggc>Agc	p.G1465S	COL4A4_uc021vxs.1_Missense_Mutation_p.G1462S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1465	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGGAAGCCACCGAGGTAT	0.592000														16			15		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9048722	9048722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9048722C>T	uc002mkp.3	-	4	33113	c.32909G>A	c.(32908-32910)gGg>gAg	p.G10970E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10972	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						AGCTTCTGTCCCATGACTGGT	0.478000														41			19		0	0	0.007413	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388206	104388206	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:104388206G>T	uc001tkh.1	-	8	1231	c.674C>A	c.(673-675)tCt>tAt	p.S225Y	GLT8D2_uc001tki.1_Missense_Mutation_p.S225Y	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	225						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGGATTGAAAGAGCAGGTGCT	0.488000														24			16		1.62849e-17	1.95318e-17	0.004007	1	0
CATSPERG	57828	broad.mit.edu	37	19	38860892	38860892	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38860892C>T	uc002oih.4	+	27	3294	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	CATSPERG_uc002oig.4_Silent_p.I1029I|CATSPERG_uc002oif.4_Silent_p.I709I|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1069					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCTTTTCATCATCATGGTGA	0.577000														10			16		0	0	0.004007	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032490	142032490	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142032490G>A	uc011krs.1	+	1	343	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		CACACAGCAGGGGGACTTGGC	0.552000														7			4		0	0	0.000602	0	0
RSPH1	89765	broad.mit.edu	37	21	43913094	43913094	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:43913094G>A	uc002zbg.3	-	1	255	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	50					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507000														52			55		0	0	0.003610	0	0
MAP4K1	11184	broad.mit.edu	37	19	39090785	39090785	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:39090785G>A	uc002oix.1	-	20	1648	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	MAP4K1_uc002oiy.1_Silent_p.L514L|MAP4K1_uc010xug.2_Silent_p.L176L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	514	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCAGGAGCAGGTGCTGGTCT	0.602000														24			6		0	0	0.003080	0	0
EPX	8288	broad.mit.edu	37	17	56270888	56270888	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:56270888C>T	uc002ivq.3	+	2	446	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	109					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCAGCGGTCCGGACCCTTCA	0.577000														18			10		0	0	0.008291	0	0
MORC1	27136	broad.mit.edu	37	3	108773680	108773680	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:108773680C>T	uc003dxl.3	-	13	1312	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	MORC1_uc011bhn.2_Missense_Mutation_p.E409K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	409					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGGATGGTTCCATGACCTCC	0.373000														27			33		0	0	0.002836	0	0
OR2G3	81469	broad.mit.edu	37	1	247769418	247769418	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:247769418T>G	uc010pyz.2	+	0	531	c.531T>G	c.(529-531)ttT>ttG	p.F177L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGACCATTTTATTTGCGAAG	0.448000														58			30		0	0	0.003271	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725564	140725564	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140725564C>T	uc003ljm.2	+	0	1964	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S655F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	657	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTCTCTCCGCCACTGTC	0.706000														38			25		0	0	0.008361	0	0
ZNF556	80032	broad.mit.edu	37	19	2878238	2878238	+	Missense_Mutation	SNP	G	A	A	rs35494032	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:2878238G>A	uc002lwp.1	+	3	1369	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	ZNF556_uc002lwq.3_Missense_Mutation_p.E427K	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	428			E -> K (in dbSNP:rs35494032).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTAAATGCGAAAAATGTGG	0.448000														58			36		0	0	0.005524	0	0
LUZP2	338645	broad.mit.edu	37	11	24998210	24998210	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:24998210G>A	uc001mqs.3	+	8	871	c.597_splice	c.e8+1	p.R199_splice	LUZP2_uc009yif.3_Splice_Site_p.R113_splice|LUZP2_uc009yig.3_Splice_Site_p.R157_splice	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	199						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCTTGACAGGGTAAGTCTA	0.318000														6			14		0	0	0.004007	0	0
NFRKB	4798	broad.mit.edu	37	11	129744122	129744122	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:129744122G>A	uc001qfg.3	-	18	2361	c.2240C>T	c.(2239-2241)cCt>cTt	p.P747L	NFRKB_uc001qfi.3_Missense_Mutation_p.P722L|NFRKB_uc001qfh.3_Missense_Mutation_p.P745L|NFRKB_uc010sbw.1_Missense_Mutation_p.P732L|NFRKB_uc009zcr.3_Missense_Mutation_p.P8L	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	722	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGGGGTTACAGGTGTGACTGG	0.572000														19			25		0	0	0.005443	0	0
LAMB1	3912	broad.mit.edu	37	7	107600255	107600255	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:107600255G>A	uc003vev.2	-	16	2572	c.2411C>T	c.(2410-2412)tCg>tTg	p.S804L	LAMB1_uc003vew.2_Missense_Mutation_p.S780L|LAMB1_uc003vex.3_Missense_Mutation_p.S780L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	780	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAACTTAACGAACCCTGAGG	0.547000														10			9		0	0	0.006214	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73063804G>A	uc004ebm.1	-	0		c.8785C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCCTTGGAGGGAAACAGTATA	0.383000														3			13		0	0	0.001855	0	0
ARVCF	421	broad.mit.edu	37	22	19960554	19960554	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:19960554G>A	uc002zqz.3	-	14	2714	c.2444C>T	c.(2443-2445)tCg>tTg	p.S815L	ARVCF_uc002zqy.3_Missense_Mutation_p.S331L	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	815					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TTCGCGTACCGATTGGCTGTG	0.687000														34			34		0	0	0.002445	0	0
MMP16	4325	broad.mit.edu	37	8	89180048	89180048	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:89180048T>G	uc003yeb.4	-	3	841	c.559A>C	c.(559-561)Att>Ctt	p.I187L		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	187					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GATGCAAAAATAATGGTTATA	0.453000														22			5		0	0	0.001168	0	0
XIST	7503	broad.mit.edu	37	X	73071822	73071822	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73071822C>T	uc004ebm.1	-	0		c.767G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TTTTTTCATCCATAAAAAGCA	0.438000														5			9		0	0	0.006214	0	0
SETDB2	83852	broad.mit.edu	37	13	50065877	50065877	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:50065877A>T	uc001vcz.3	+	14	2958	c.2052A>T	c.(2050-2052)aaA>aaT	p.K684N	SETDB2_uc001vda.3_Missense_Mutation_p.K672N	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	684	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GGTATGTGAAAGCAAGAACAG	0.323000														17			12		0	0	0.001855	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12893453	12893453	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:12893453G>A	uc002gnr.4	+	20	2749	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	ARHGAP44_uc010vvk.2_3'UTR|ARHGAP44_uc010vvl.2_3'UTR|ARHGAP44_uc002gns.4_3'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.D802N|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	808					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGACAAGAGGGACTCGGAGGA	0.607000														10			8		0	0	0.003080	0	0
ITGAM	3684	broad.mit.edu	37	16	31341842	31341842	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:31341842C>T	uc002ebr.3	+	27	3293	c.3195C>T	c.(3193-3195)ctC>ctT	p.L1065L	ITGAM_uc002ebq.3_Silent_p.L1064L|ITGAM_uc010can.3_Silent_p.L470L	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1064					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATAACCACCTCCTGATCGTGA	0.627000														6			7		0	0	0.004482	0	0
DHX38	9785	broad.mit.edu	37	16	72142233	72142233	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:72142233C>T	uc002fcb.3	+	21	3427	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	DHX38_uc010vmp.2_Silent_p.S336S	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1024					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATAATTACTCCACCATCTGGT	0.488000														16			17		0	0	0.004007	0	0
FAM83B	222584	broad.mit.edu	37	6	54806470	54806470	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:54806470G>A	uc003pck.3	+	4	2817	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	901										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGATTCAAGGGAGATTAATGC	0.468000														24			20		0	0	0.001882	0	0
FAM47C	442444	broad.mit.edu	37	X	37029212	37029212	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37029212A>T	uc004ddl.2	+	0	2781	c.2729A>T	c.(2728-2730)aAa>aTa	p.K910I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	910								p.V909F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GATGAGGTCAAATTCTTCTCA	0.458000														32			13		0	0	0.001855	0	0
MARK1	4139	broad.mit.edu	37	1	220835350	220835350	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:220835350C>T	uc009xdw.3	+	17	2830	c.2233C>T	c.(2233-2235)Cat>Tat	p.H745Y	MARK1_uc001hmn.4_Missense_Mutation_p.H744Y|MARK1_uc010pun.2_Missense_Mutation_p.H729Y|MARK1_uc001hmm.4_Missense_Mutation_p.H707Y	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	744					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTCTGTGTCCATGGAGACGC	0.438000														46			19		0	0	0.001523	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224374	172224374	+	Missense_Mutation	SNP	C	T	T	rs145536359		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:172224374C>T	uc003fid.3	-	4	877	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	252					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.E252K(2)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGTCATTTTCCTTAAGCTCA	0.373000														42			7		0	0	0.003080	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853379	70853379	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:70853379G>A	uc003tvy.3	+	2	581	c.581G>A	c.(580-582)aGc>aAc	p.S194N	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	194	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATGACAACAGCGACGAAGGT	0.577000														15			8		0	0	0.003080	0	0
C11orf9	745	broad.mit.edu	37	11	61541599	61541599	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:61541599C>T	uc001nsc.1	+	7	1372	c.1276C>T	c.(1276-1278)Ctc>Ttc	p.L426F	C11orf9_uc001nse.1_Missense_Mutation_p.L417F	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	426					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CCTCAAGCCCCTCGACTGCTT	0.597000														3			6		0	0	0.001984	0	0
OR4K13	390433	broad.mit.edu	37	14	20502829	20502829	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20502829C>T	uc010tkz.2	-	0	89	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CACAGAGAATCCCAAGAAGAA	0.398000														8			11		0	0	0.000978	0	0
SLK	9748	broad.mit.edu	37	10	105762727	105762727	+	Silent	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:105762727T>G	uc001kxo.1	+	8	1825	c.1791T>G	c.(1789-1791)acT>acG	p.T597T	SLK_uc001kxp.1_Silent_p.T597T	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	597	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTGGTGGTACTAAGGAAGTTC	0.383000														10			7		0	0	0.001984	0	0
SHC2	25759	broad.mit.edu	37	19	425190	425190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:425190G>A	uc002loq.4	-	9	1216	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	406	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCCGGGGGGCCCCGGGCG	0.682000														20			22		0	0	0.001882	0	0
RBM46	166863	broad.mit.edu	37	4	155720126	155720126	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:155720126G>A	uc003ioo.3	+	3	985	c.812G>A	c.(811-813)aGa>aAa	p.R271K	RBM46_uc011cim.1_Missense_Mutation_p.R271K|RBM46_uc003iop.1_Missense_Mutation_p.R271K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	271	RRM 3.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGAAACTTAGAGATTATGCT	0.353000														8			13		0	0	0.004007	0	0
ABCA12	26154	broad.mit.edu	37	2	215818596	215818596	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:215818596G>A	uc002vew.3	-	43	6849	c.6629C>T	c.(6628-6630)tCc>tTc	p.S2210F	ABCA12_uc002vev.3_Missense_Mutation_p.S1892F|ABCA12_uc010zjn.2_Missense_Mutation_p.S1137F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2210					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTATCAGGGATTCGTTGAT	0.353000														12			8		0	0	0.004482	0	0
LTBP1	4052	broad.mit.edu	37	2	33468816	33468816	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:33468816G>A	uc021vft.1	+	9	1987	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	LTBP1_uc002rou.3_Missense_Mutation_p.G329E|LTBP1_uc002rov.3_Missense_Mutation_p.G329E|LTBP1_uc010ymz.2_Missense_Mutation_p.G329E|LTBP1_uc010yna.2_Missense_Mutation_p.G329E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	655	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCAAAATAGGATTTGGGCCG	0.383000														27			23		0	0	0.005443	0	0
OR52K2	119774	broad.mit.edu	37	11	4471197	4471197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4471197G>A	uc001lyz.2	+	0	673	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTATTGTGGTGTTGGACCT	0.502000														29			51		0	0	0.003610	0	0
RTF1	23168	broad.mit.edu	37	15	41767775	41767775	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:41767775T>A	uc001zny.3	+	9	1351	c.1339T>A	c.(1339-1341)Ttc>Atc	p.F447I		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	447	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAACCAAGAATTCACCGAAAG	0.428000														28			19		0	0	0.001882	0	0
PTPRT	11122	broad.mit.edu	37	20	40710649	40710649	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:40710649C>T	uc002xkg.3	-	29	4329	c.4145G>A	c.(4144-4146)gGa>gAa	p.G1382E	PTPRT_uc010ggj.3_Missense_Mutation_p.G1401E|PTPRT_uc010ggi.3_Missense_Mutation_p.G585E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1382	Tyrosine-protein phosphatase 2.				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)				ACTACGGCCTCCCCCATTTCT	0.493000														63			11		0	0	0.000978	0	0
PTPN14	5784	broad.mit.edu	37	1	214537893	214537893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:214537893G>A	uc001hkk.2	-	17	4050	c.3397C>T	c.(3397-3399)Ctt>Ttt	p.L1133F	PTPN14_uc021piy.1_Missense_Mutation_p.L897F	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	1133	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCAGAAAGAATGAGCACG	0.567000														37			13		0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152326703	152326703	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152326703C>T	uc001ezw.4	-	2	3632	c.3559G>A	c.(3559-3561)Gac>Aac	p.D1187N	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1187	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAATTGTCTGAGCCAGAC	0.498000														77			18		0	0	0.006122	0	0
BAI3	577	broad.mit.edu	37	6	70092801	70092801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:70092801C>T	uc010kak.3	+	29	4630	c.4354C>T	c.(4354-4356)Cgg>Tgg	p.R1452W	BAI3_uc003pev.4_Missense_Mutation_p.R1452W|BAI3_uc011dxx.2_Missense_Mutation_p.R658W	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1452					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1452W(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACAGATTTCGGGATATACC	0.383000														10			9		0	0	0.000978	0	0
SALL1	6299	broad.mit.edu	37	16	51174880	51174880	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:51174880G>A	uc021tif.1	-	1	1284	c.962C>T	c.(961-963)tCc>tTc	p.S321F	SALL1_uc021tid.1_Missense_Mutation_p.S321F|SALL1_uc021tie.1_Missense_Mutation_p.S418F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	418					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCAGACAAGGAGTTTAAATC	0.493000														66			43		0	0	0.003610	0	0
SH3D19	152503	broad.mit.edu	37	4	152069194	152069194	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:152069194C>T	uc010ipl.1	-	10	2212	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	SH3D19_uc003imb.2_Silent_p.Q152Q|SH3D19_uc003imc.2_Silent_p.Q338Q|SH3D19_uc003ime.2_Silent_p.Q374Q|SH3D19_uc010ipm.2_Silent_p.Q374Q	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	374					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTGTTTTTTCTGAAGATCCA	0.458000														20			16		0	0	0.004990	0	0
SCRN2	90507	broad.mit.edu	37	17	45918102	45918102	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:45918102G>A	uc002imd.3	-	1	234	c.108C>T	c.(106-108)ccC>ccT	p.P36P	SCRN2_uc002imf.3_Silent_p.P36P	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	36					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCTCGTCCCGGGGTCGGTCCG	0.642000														16			19		0	0	0.007413	0	0
NXPH3	11248	broad.mit.edu	37	17	47656142	47656142	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:47656142G>A	uc002ipa.3	+	1	523	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	80	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GGCATTCTTGGGCAGCCCCCC	0.642000														26			18		0	0	0.008871	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446466	169446466	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446466T>C	uc001gge.4	-	1	938	c.734A>G	c.(733-735)aAc>aGc	p.N245S	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	245					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.S244Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AGGAAGGTGGTTAGAAGCTGG	0.478000														100			5		0	0	0.003080	0	0
KLHL13	90293	broad.mit.edu	37	X	117033005	117033005	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:117033005C>T	uc011mtp.2	-	7	1976	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	KLHL13_uc004eqk.3_Missense_Mutation_p.D561N|KLHL13_uc004eql.3_Missense_Mutation_p.D612N|KLHL13_uc011mtn.2_Missense_Mutation_p.D452N|KLHL13_uc011mto.2_Missense_Mutation_p.D606N|KLHL13_uc011mtq.2_Missense_Mutation_p.D596N|KLHL13_uc004eqm.3_Missense_Mutation_p.D570N|KLHL13_uc022cde.1_Missense_Mutation_p.D596N	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	612					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCATCTTTATCTGGATCATAT	0.423000														13			28		0	0	0.001786	0	0
IZUMO4	113177	broad.mit.edu	37	19	2098799	2098799	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:2098799A>G	uc002luw.1	+	7	627	c.550A>G	c.(550-552)Atg>Gtg	p.M184V	IZUMO4_uc002lux.1_Missense_Mutation_p.M184V|IZUMO4_uc010xgw.1_3'UTR	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3, mRNA.	184						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GGACACGAGCATGAGGTAAGG	0.632000														17			13		0	0	0.003163	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138367	126138367	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:126138367G>A	uc001uhe.1	+	8	2356	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	TMEM132B_uc001uhf.1_Missense_Mutation_p.G295E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	783						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGGGTAAAGGAAATGTCAAG	0.433000														33			9		0	0	0.004482	0	0
ODZ3	55714	broad.mit.edu	37	4	183714756	183714757	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:183714756_183714757CT>TA	uc003ivd.1	+	24	7006_7007	c.6931_6932CT>TA	c.(6931-6933)ctt>TAt	p.L2311Y		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2311					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAGCAATGGGCTTATGCTGAAA	0.421000														18			5		0	0	0.004672	0	0
TRPM6	140803	broad.mit.edu	37	9	77407656	77407656	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:77407656C>T	uc004ajl.1	-	18	2660	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	TRPM6_uc004ajk.1_Missense_Mutation_p.E803K|TRPM6_uc022bib.1_Missense_Mutation_p.E803K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	808					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGTTTCTCATCATGGCCC	0.383000														29			5		0	0	0.000602	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165093	60165093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:60165093C>T	uc001sqs.3	+	3	610	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SLC16A7_uc001sqt.3_Missense_Mutation_p.S104F|SLC16A7_uc001squ.3_Missense_Mutation_p.S104F|SLC16A7_uc009zqi.3_Missense_Mutation_p.S5F|SLC16A7_uc010ssi.2_Missense_Mutation_p.S5F	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	104						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GTGTTGGCCTCCTTTAGTAGC	0.443000														76			30		0	0	0.001786	0	0
FBXO38	81545	broad.mit.edu	37	5	147820005	147820005	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:147820005A>T	uc003lpf.1	+	19	3309	c.3189A>T	c.(3187-3189)gaA>gaT	p.E1063D	FBXO38_uc003lpg.1_Missense_Mutation_p.E988D|FBXO38_uc003lph.2_Missense_Mutation_p.E818D	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	1063						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAATATGAATTCTTCCCTG	0.368000														25			10		0	0	0.000978	0	0
FBXO44	93611	broad.mit.edu	37	1	11718602	11718602	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:11718602G>A	uc010oar.2	+	3	502	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	FBXO44_uc001ask.3_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc010oas.2_Intron|FBXO44_uc001asm.3_Silent_p.K135K|FBXO44_uc001asl.3_Silent_p.K135K|FBXO44_uc001asn.3_Intron	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCTCAAGTCCCAGGTGG	0.657000														14			16		0	0	0.004007	0	0
ZNF546	339327	broad.mit.edu	37	19	40512005	40512005	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:40512005C>T	uc002oms.2	+	3	343	c.87C>T	c.(85-87)ccC>ccT	p.P29P	ZNF546_uc002omt.2_Silent_p.P3P	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCCCCAGCCCCGGTTTCTCT	0.418000														27			27		0	0	0.005443	0	0
SPEN	23013	broad.mit.edu	37	1	16258177	16258177	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:16258177G>A	uc001axk.1	+	10	5646	c.5442G>A	c.(5440-5442)aaG>aaA	p.K1814K	SPEN_uc010obp.1_Silent_p.K1773K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1814					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGCTGCAAAGGATAAAAAGC	0.507000														30			21		0	0	0.001523	0	0
CXorf22	170063	broad.mit.edu	37	X	35974253	35974253	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:35974253A>G	uc004ddj.3	+	7	1416	c.1350A>G	c.(1348-1350)aaA>aaG	p.K450K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	450								p.K450E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACCACTTTAAAAAAACTGCAA	0.353000														14			9		0	0	0.004482	0	0
DNAH2	146754	broad.mit.edu	37	17	7719992	7719992	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:7719992G>A	uc002giu.1	+	62	9847	c.9833G>A	c.(9832-9834)cGa>cAa	p.R3278Q	DNAH2_uc010cnm.1_Missense_Mutation_p.R216Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3278					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)				AAGCTGGAGCGAGCTGGGATG	0.542000														37			31		0	0	0.002096	0	0
OR9G9	390174	broad.mit.edu	37	11	56468777	56468777	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:56468777C>T	uc010rjn.2	+	0	914	c.914C>T	c.(913-915)cCa>cTa	p.P305L	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AAACTTCTCCCATAAATCAAG	0.383000														26			7		0	0	0.001984	0	0
GALNT1	2589	broad.mit.edu	37	18	33272216	33272216	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:33272216T>C	uc010dmu.3	+	8	1284	c.1231T>C	c.(1231-1233)Ttt>Ctt	p.F411L	GALNT1_uc002kyz.4_Missense_Mutation_p.F351L|GALNT1_uc002kzb.3_Missense_Mutation_p.F411L	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	411					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGCAAACCTTTTTCCTGGTA	0.328000														73			19		0	0	0.001882	0	0
GKN2	200504	broad.mit.edu	37	2	69173470	69173470	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:69173470G>A	uc002sfa.3	-	4	547	c.438C>T	c.(436-438)atC>atT	p.I146I	GKN2_uc002sfb.4_Silent_p.I146I	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	146	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TATACAAAGGGATATGTTTGC	0.448000														60			42		0	0	0.003610	0	0
CIT	11113	broad.mit.edu	37	12	120151086	120151086	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:120151086C>T	uc001txj.2	-	34	4557	c.4501G>A	c.(4501-4503)Gga>Aga	p.G1501R	CIT_uc001txh.2_Missense_Mutation_p.G978R|CIT_uc001txi.2_Missense_Mutation_p.G1459R	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1459	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTTGCTGTCCTCGTTTGTTA	0.453000														62			63		0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144922189	144922189	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:144922189G>A	uc021ouh.1	-	7	1281	c.979C>T	c.(979-981)Cac>Tac	p.H327Y	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.H327Y|PDE4DIP_uc001elx.4_Missense_Mutation_p.H393Y|PDE4DIP_uc001emd.2_Missense_Mutation_p.H327Y|PDE4DIP_uc001emc.2_Missense_Mutation_p.H327Y|PDE4DIP_uc001emb.1_Missense_Mutation_p.H490Y|PDE4DIP_uc001eme.1_5'Flank	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	327					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACATACGTGAAGTTGTCCA	0.443000			T	PDGFRB	MPD									19			6		0	0	0.001168	0	0
NUDT4	11163	broad.mit.edu	37	12	93793091	93793091	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:93793091C>T	uc010sup.2	+	4	880	c.482C>T	c.(481-483)cCg>cTg	p.P161L	NUDT4_uc001tcm.3_Missense_Mutation_p.P160L|NUDT4_uc001tcn.3_Missense_Mutation_p.P108L|NUDT4_uc010suq.2_Missense_Mutation_p.P109L|NUDT4_uc001tco.3_Missense_Mutation_p.P108L	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	160					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CCTTCCCTTCCGGATAATAAT	0.478000														171			19		0	0	0.001523	0	0
LCT	3938	broad.mit.edu	37	2	136564955	136564955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:136564955C>T	uc002tuu.1	-	8	3927	c.3916G>A	c.(3916-3918)Gat>Aat	p.D1306N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1306	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.D1306D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTATACCATCGAGCCTGTAG	0.522000														29			23		0	0	0.004656	0	0
DUSP12	11266	broad.mit.edu	37	1	161719773	161719773	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:161719773C>T	uc001gbo.3	+	0	193	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	61					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACAGTGGACTCGGAGGAGCCC	0.647000														41			10		0	0	0.006214	0	0
KCNH6	81033	broad.mit.edu	37	17	61601531	61601531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:61601531G>A	uc002jay.3	+	1	188	c.108G>A	c.(106-108)atG>atA	p.M36I	KCNH6_uc002jax.1_Missense_Mutation_p.M36I|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Missense_Mutation_p.M36I|KCNH6_uc002jaz.1_Missense_Mutation_p.M36I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGCTCAGATGGAGAACTGCG	0.572000														84			62		0	0	0.003610	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471606	61471606	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:61471606C>T	uc002ljl.3	+	7	976	c.880C>T	c.(880-882)Cta>Tta	p.L294L	SERPINB7_uc002ljm.3_Silent_p.L294L|SERPINB7_uc010xet.2_Silent_p.L277L|SERPINB7_uc010dqg.3_Silent_p.L294L	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	294					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTTGAGAGCCCTAGGGCTGAA	0.393000														20			12		0	0	0.001855	0	0
SOGA1	140710	broad.mit.edu	37	20	35467683	35467683	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:35467683G>A	uc021wcx.1	-	1	1189	c.849C>T	c.(847-849)ctC>ctT	p.L283L	SOGA1_uc002xgd.1_Silent_p.L45L	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	45										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGGCGGCACGGAGACTGCGGC	0.662000														40			75		0	0	0.003610	0	0
NCOA5	57727	broad.mit.edu	37	20	44695779	44695779	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44695779G>A	uc002xrd.3	-	3	1072	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	NCOA5_uc002xrc.3_Missense_Mutation_p.R70C|NCOA5_uc002xre.3_Missense_Mutation_p.R182C	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAATATTGACGATAAAGCTCT	0.433000														64			12		0	0	0.001855	0	0
SUSD1	64420	broad.mit.edu	37	9	114886656	114886656	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:114886656G>A	uc010mui.3	-	5	808	c.767C>T	c.(766-768)tCc>tTc	p.S256F	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.S256F|SUSD1_uc010muj.3_Missense_Mutation_p.S256F			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	256	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGCCTGGAGCTGTGATT	0.532000														17			49		0	0	0.003610	0	0
DDC	1644	broad.mit.edu	37	7	50530967	50530967	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:50530967C>T	uc003tpg.4	-	13	1606	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	DDC_uc022ade.1_Missense_Mutation_p.E391K|DDC_uc003tpf.4_Missense_Mutation_p.E469K|DDC_uc022adb.1_Missense_Mutation_p.E431K|DDC_uc022adc.1_Missense_Mutation_p.E421K|DDC_uc022add.1_Missense_Mutation_p.E376K	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	469					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCCGCCAGCTCTTTGATGTGT	0.597000														12			10		0	0	0.008291	0	0
MEIG1	644890	broad.mit.edu	37	10	15008576	15008576	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:15008576G>A	uc009xjk.1	+	1	257	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	DCLRE1C_uc021pni.1_Intron	NM_001080836	NP_001074305	Q5JSS6	MEIG1_HUMAN	Homo sapiens meiosis expressed gene 1 homolog (mouse) (MEIG1), mRNA.	37										kidney(1)|ovary(1)|prostate(1)	3						GGATGAAACCGAATATAGACA	0.338000														22			5		0	0	0.001168	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703864	156703864	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156703864C>T	uc001fpu.3	+	5	1334	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	RRNAD1_uc001fpv.3_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	234						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCCCACAGCCCTGTGTGAGGA	0.607000														62			19		0	0	0.008871	0	0
PCSK1	5122	broad.mit.edu	37	5	95728851	95728851	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:95728851T>A	uc003kls.2	-	13	2355	c.2116A>T	c.(2116-2118)Aag>Tag	p.K706*	PCSK1_uc010jbi.2_Nonsense_Mutation_p.K396*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.K659*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	706					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTCAGCTTTTCCAGGGCT	0.403000														78			35		0	0	0.005524	0	0
ELF5	2001	broad.mit.edu	37	11	34502410	34502410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:34502410G>A	uc001mvo.1	-	5	840	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ELF5_uc021qft.1_Missense_Mutation_p.R126W|ELF5_uc001mvp.2_Missense_Mutation_p.R194W|ELF5_uc009ykd.2_Missense_Mutation_p.R99W	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	204					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTAACCACCCGAAAAATTCCT	0.428000														19			23		0	0	0.002780	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962048	10962048	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:10962048G>A	uc001qyx.3	-	0	720	c.627C>T	c.(625-627)acC>acT	p.T209T	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	209					sensory perception of taste	integral to membrane	taste receptor activity	p.T209N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATCTGCTTGGTGTGTCTAA	0.478000														26			6		0	0	0.001984	0	0
JAZF1	221895	broad.mit.edu	37	7	27880369	27880369	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:27880369C>T	uc003szn.3	-	3	744	c.503G>A	c.(502-504)gGg>gAg	p.G168E	JAZF1_uc003szm.3_Missense_Mutation_p.G104E	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	168					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CTTCTCTTCCCCTCCATTCAT	0.527000			T	SUZ12	endometrial stromal tumours									275			180		0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65393461	65393461	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:65393461C>T	uc011moz.2	+	3	742	c.605C>T	c.(604-606)cCa>cTa	p.P202L	HEPH_uc004dwn.3_Missense_Mutation_p.P151L|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.P151L|HEPH_uc011mpa.2_Missense_Mutation_p.P151L	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	148	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCTCTGGGCCACTGAAAGCT	0.527000														17			3		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61829310	61829310	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61829310C>T	uc001jky.3	-	36	11667	c.11329G>A	c.(11329-11331)Gaa>Aaa	p.E3777K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3777					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATGTTTTTCATGGGGCCTA	0.338000														47			37		0	0	0.003755	0	0
MECOM	2122	broad.mit.edu	37	3	169099133	169099133	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:169099133C>T	uc011bpj.1	-	1	620	c.217G>A	c.(217-219)Gat>Aat	p.D73N	MECOM_uc003ffl.2_Missense_Mutation_p.D45N|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.D73N|MECOM_uc011bpl.1_Missense_Mutation_p.D73N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	73							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGGGGATATCATCAGGGATG	0.473000														46			47		0	0	0.003610	0	0
ZNF320	162967	broad.mit.edu	37	19	53383908	53383908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:53383908G>A	uc002qag.3	-	3	1662	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.P437S|ZNF320_uc002qai.3_Missense_Mutation_p.P491S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAAAAGGAATTTTCTGA	0.393000														24			12		0	0	0.001368	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554070	223554070	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:223554070G>A	uc010fws.1	+	2	408	c.360G>A	c.(358-360)ggG>ggA	p.G120G	MOGAT1_uc010fwt.1_Silent_p.G80G	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	120					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GAGCCTTTGGGAATTTTTCTG	0.413000														29			21		0	0	0.001882	0	0
OR2V2	285659	broad.mit.edu	37	5	180582422	180582422	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:180582422G>A	uc011dhj.2	+	0	480	c.480G>A	c.(478-480)caG>caA	p.Q160Q		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTGATCCAGATGGTGGTAG	0.483000														86			37		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179650739	179650739	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179650739C>T	uc021vsy.1	-	13	2431	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	TTN_uc021vsz.1_Missense_Mutation_p.G690R|TTN_uc021vta.1_Missense_Mutation_p.G690R|TTN_uc021vtb.1_Missense_Mutation_p.G690R|TTN_uc002unb.2_Missense_Mutation_p.G736R|TTN_uc010frg.1_Missense_Mutation_p.G318R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	736							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)			TCCTTATATCCGTACTCCAAA	0.537000														29			17		0	0	0.004007	0	0
TGM6	343641	broad.mit.edu	37	20	2378688	2378688	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:2378688C>T	uc002wfy.1	+	4	729	c.668C>T	c.(667-669)gCc>gTc	p.A223V	TGM6_uc010gal.1_Missense_Mutation_p.A223V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	223					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTCATCAGTGCCATGGTGAGA	0.597000														6			25		0	0	0.003330	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250211	140250211	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140250211C>T	uc003lia.2	+	0	2381	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.S508L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	523	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTGCACGCG	0.701000														66			51		0	0	0.003610	0	0
OR10H1	26539	broad.mit.edu	37	19	15918703	15918703	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:15918703C>G	uc002nbq.2	-	0	234	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCGCTCCAGACGGTGGCCATG	0.617000														32			12		0	0	0.007413	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228802	57228802	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:57228802C>T	uc010lyk.1	-	1	743	c.105G>A	c.(103-105)cgG>cgA	p.R35R	SDR16C5_uc003xsy.1_Silent_p.R35R|SDR16C5_uc010lyl.1_Silent_p.R35R	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	35					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAACGTTCTTCCGTGGCTTTG	0.458000														18			6		0	0	0.001168	0	0
BAI3	577	broad.mit.edu	37	6	69348921	69348921	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:69348921C>T	uc010kak.3	+	1	630	c.354C>T	c.(352-354)ttC>ttT	p.F118F	BAI3_uc003pev.4_Silent_p.F118F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	118	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATGCTTTCGTTTTTCTAC	0.308000														12			12		0	0	0.000978	0	0
TRHDE	29953	broad.mit.edu	37	12	72962383	72962383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:72962383G>A	uc001sxa.3	+	9	1973	c.1943G>A	c.(1942-1944)gGa>gAa	p.G648E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	648					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.G648R(1)		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						ATTGTGGTAGGAAATAGAAGC	0.318000														23			6		0	0	0.006214	0	0
CDH8	1006	broad.mit.edu	37	16	61687532	61687532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:61687532C>T	uc002eog.2	-	11	3335	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	794					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E794K(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGTCACTTTCACCAACAGAG	0.448000														4			14		0	0	0.003163	0	0
FGF21	26291	broad.mit.edu	37	19	49259613	49259613	+	Silent	SNP	C	T	T	rs145274354		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:49259613C>T	uc002pkn.1	+	1	692	c.120C>T	c.(118-120)ttC>ttT	p.F40F	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkl.1_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.F40F	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	40					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCCTGCAATTCGGGGGCCAAG	0.632000														19			9		0	0	0.008291	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834509	101834509	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:101834509C>T	uc003knn.3	-	0	212	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	SLCO6A1_uc003kno.3_Missense_Mutation_p.E14K|SLCO6A1_uc003knp.3_Missense_Mutation_p.E14K|SLCO6A1_uc003knq.3_Missense_Mutation_p.E14K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	14						integral to membrane|plasma membrane	transporter activity	p.E14K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTGAGACTTCATCCTGGCTC	0.687000														66			51		0	0	0.003610	0	0
WDR78	79819	broad.mit.edu	37	1	67313257	67313257	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:67313257G>A	uc001dcx.3	-	7	1257	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	WDR78_uc001dcy.3_Missense_Mutation_p.H401Y|WDR78_uc009waw.3_Missense_Mutation_p.H147Y|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	401										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AAGTCCTGATGAAATTTGTCA	0.333000														21			13		0	0	0.002450	0	0
GIT2	9815	broad.mit.edu	37	12	110426860	110426860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:110426860C>T	uc001tps.2	-	3	478	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	GIT2_uc001tpq.2_Missense_Mutation_p.E105K|GIT2_uc001tpv.2_Missense_Mutation_p.E105K|GIT2_uc001tpu.2_Missense_Mutation_p.E105K|GIT2_uc001tpt.2_Missense_Mutation_p.E105K|GIT2_uc010sxu.1_Missense_Mutation_p.E43K|GIT2_uc001tpw.3_Missense_Mutation_p.E105K|GIT2_uc010sxv.1_Missense_Mutation_p.E105K	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	105	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGATGAATTCCGCTTTATTG	0.438000														96			26		0	0	0.005443	0	0
FAT3	120114	broad.mit.edu	37	11	92534757	92534757	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:92534757G>A	uc001pdj.4	+	8	8595	c.8578G>A	c.(8578-8580)Gaa>Aaa	p.E2860K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2860	Cadherin 26.				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)				TTCCCAGCCCGAAAAGGTAAT	0.498000										TCGA Ovarian(4;0.039)				62			118		0	0	0.003610	0	0
ZNF81	347344	broad.mit.edu	37	X	47774409	47774409	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47774409G>A	uc022bvq.1	+	4	613	c.364G>A	c.(364-366)Gat>Aat	p.D122N	ZNF81_uc010nhy.2_Missense_Mutation_p.D122N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGACACAAGAGATGATTCATT	0.363000														15			7		0	0	0.001984	0	0
TMC2	117532	broad.mit.edu	37	20	2591082	2591082	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:2591082C>T	uc002wgf.1	+	11	1446	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	TMC2_uc002wgg.1_Silent_p.S461S|TMC2_uc010zpw.1_Silent_p.S309S|TMC2_uc010zpx.1_Silent_p.S308S	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	477						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCGTGATGTCCCTGCTTGGAA	0.512000														56			97		0	0	0.003610	0	0
FAM221B	392307	broad.mit.edu	37	9	35826009	35826009	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:35826009C>T	uc010mlc.2	-	1	435	c.150G>A	c.(148-150)gaG>gaA	p.E50E	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Silent_p.E50E	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	50										endometrium(2)|kidney(1)|lung(4)	7						AGGTATGGGGCTCTAACGGGG	0.547000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			43		0	0	0.002222	0	0
VEPH1	79674	broad.mit.edu	37	3	157213110	157213110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:157213110C>T	uc003fbj.2	-	1	448	c.29G>A	c.(28-30)gGa>gAa	p.G10E	VEPH1_uc003fbk.2_Missense_Mutation_p.G10E|VEPH1_uc010hvu.2_Missense_Mutation_p.G10E|VEPH1_uc021xgk.1_Missense_Mutation_p.G10E|VEPH1_uc003fbn.3_Missense_Mutation_p.G10E|VEPH1_uc003fbm.3_Missense_Mutation_p.G10E	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	10						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATCTTTTTGTCCCAAAACCAG	0.428000														50			43		0	0	0.002852	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065139	15065139	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:15065139G>A	uc002naa.1	-	6	1179	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SLC1A6_uc010dzu.1_Missense_Mutation_p.S313L|SLC1A6_uc010xod.1_Missense_Mutation_p.S327L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	391					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAGCGTTGCCGAGCTGGGGGA	0.697000														25			20		0	0	0.001523	0	0
AP1M1	8907	broad.mit.edu	37	19	16314426	16314426	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:16314426C>T	uc002ndv.2	+	2	372	c.199_splice	c.e2+1	p.L67_splice	AP1M1_uc002ndu.2_Splice_Site_p.L67_splice|AP1M1_uc010xpd.1_Splice_Site_p.L67_splice	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	67					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAACCTGTATCGTATCCCTTT	0.597000														35			30		0	0	0.002836	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712561	140712561	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140712561C>T	uc003lji.2	+	0	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGC5_uc011dan.2_Silent_p.F770F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	779					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATTTTCCCCCAGCCCA	0.547000														58			31		0	0	0.003271	0	0
CNTN2	6900	broad.mit.edu	37	1	205027463	205027463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:205027463G>A	uc001hbr.3	+	3	639	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.3_5'UTR|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	124	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGTCAGCAGGGAGGCCATCCT	0.627000														35			10		0	0	0.008291	0	0
FAM65B	9750	broad.mit.edu	37	6	24848352	24848352	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:24848352G>A	uc003neo.1	-	11	1154	c.978C>T	c.(976-978)tcC>tcT	p.S326S	FAM65B_uc011djs.1_Silent_p.S355S|FAM65B_uc011dju.2_Silent_p.S360S|FAM65B_uc003nep.3_Silent_p.S326S|FAM65B_uc011djt.2_Silent_p.S326S	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	326					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CAGCGCCTGAGGATGCGGTCA	0.527000														15			10		0	0	0.008291	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561343	55561343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:55561343C>T	uc002ryv.2	-	14	3456	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	CCDC88A_uc010ypa.1_Missense_Mutation_p.E872K|CCDC88A_uc010yoz.1_Missense_Mutation_p.E872K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E774K|CCDC88A_uc002ryu.2_Missense_Mutation_p.E155K|CCDC88A_uc002ryw.3_Missense_Mutation_p.E155K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	872					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATACCAATTTCTTTGGATAGG	0.308000														26			14		0	0	0.002450	0	0
COL11A2	1302	broad.mit.edu	37	6	33143840	33143840	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:33143840C>T	uc003ocx.1	-	28	2449	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.D655N|COL11A2_uc003ocz.1_Missense_Mutation_p.D634N	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	741	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGAAAGCCATCCTCACCCTGA	0.547000														109			41		0	0	0.002222	0	0
AKAP13	11214	broad.mit.edu	37	15	86270681	86270681	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:86270681C>T	uc002blv.1	+	28	7244	c.7074C>T	c.(7072-7074)gcC>gcT	p.A2358A	AKAP13_uc002blu.1_Silent_p.A2362A|AKAP13_uc010bnf.1_Silent_p.A979A|AKAP13_uc002blw.1_Silent_p.A823A|AKAP13_uc002blx.1_Silent_p.A603A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2358	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACACCAGAGCCCGAGAATTAA	0.443000														10			3		0	0	0.004672	0	0
TBX5	6910	broad.mit.edu	37	12	114793375	114793375	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:114793375C>T	uc001tvo.3	-	8	2014	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	TBX5_uc001tvp.3_Missense_Mutation_p.G507R|TBX5_uc001tvq.3_Missense_Mutation_p.G457R	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	507				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ATGCCAACTCCGTGCACAGAG	0.547000														29			6		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	12	49416504	49416504	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:49416504G>A	uc001rta.4	-	50	16207	c.16207C>T	c.(16207-16209)Cgc>Tgc	p.R5403C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5403	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACGGGAGCGAGCCAGGTAC	0.562000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				34			28		0	0	0.001786	0	0
INO80	54617	broad.mit.edu	37	15	41372018	41372018	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:41372018G>C	uc001zni.3	-	8	1225	c.1012C>G	c.(1012-1014)Cgc>Ggc	p.R338G	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	338	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGTGAGGCGGCGGGCACGA	0.527000														95			54		0	0	0.003610	0	0
PADI6	353238	broad.mit.edu	37	1	17727763	17727763	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:17727763G>A	uc001bak.1	+	16	1914	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	630					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCAAATCAAGGGGACCTGCT	0.542000														32			28		0	0	0.007291	0	0
DTX1	1840	broad.mit.edu	37	12	113532915	113532915	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:113532915G>A	uc001tuk.1	+	6	1791	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	485					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCCGCCTGGGAAGATGGAGT	0.642000														30			12		0	0	0.000978	0	0
NSUN6	221078	broad.mit.edu	37	10	18840781	18840781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:18840781G>A	uc010qcp.1	-	8	1460	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	348							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTAATGGCTGATATGATGCC	0.423000														19			33		0	0	0.004878	0	0
TRPV6	55503	broad.mit.edu	37	7	142570162	142570162	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142570162C>T	uc003wbx.2	-	13	2087	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	TRPV6_uc003wbw.1_Missense_Mutation_p.G406R|TRPV6_uc010lou.1_Missense_Mutation_p.G491R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	620					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TACTCCCGTCCGCAGATCCCG	0.627000														11			10		0	0	0.001368	0	0
GLI2	2736	broad.mit.edu	37	2	121744126	121744126	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:121744126C>T	uc010flp.3	+	11	2259	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	GLI2_uc002tmq.1_Silent_p.S415S|GLI2_uc002tmr.1_Silent_p.S398S|GLI2_uc002tmt.4_Silent_p.S415S|GLI2_uc002tmu.4_Silent_p.S398S|GLI2_uc002tmw.1_Silent_p.S726S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	743					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCAAGGATTCCTGCTCATGGG	0.617000														27			16		0	0	0.001882	0	0
SYNE1	23345	broad.mit.edu	37	6	152763287	152763287	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:152763287G>A	uc021zhb.1	-	28	4154	c.3931C>T	c.(3931-3933)Cac>Tac	p.H1311Y	SYNE1_uc003qot.4_Missense_Mutation_p.H1318Y|SYNE1_uc003qou.4_Missense_Mutation_p.H1311Y|SYNE1_uc010kjb.1_Missense_Mutation_p.H1294Y|SYNE1_uc003qow.3_Missense_Mutation_p.H606Y|SYNE1_uc003qox.1_Missense_Mutation_p.H827Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1311					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCTCGTGGCCTCGGTCA	0.632000										HNSCC(10;0.0054)				15			25		0	0	0.003330	0	0
H3F3C	440093	broad.mit.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:31944956G>A	uc001rkr.3	-	0	220	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	49					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602000										HNSCC(67;0.2)				18			18		0	0	0.001882	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619967	77619967	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77619967G>A	uc003yau.2	+	2	3164	c.2777G>A	c.(2776-2778)aGt>aAt	p.S926N	ZFHX4_uc003yat.1_Missense_Mutation_p.S900N|ZFHX4_uc003yaw.1_Missense_Mutation_p.S900N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	900						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGTGAGCAGTGAGCGCTCT	0.502000										HNSCC(33;0.089)				8			9		0	0	0.004482	0	0
OR2L13	284521	broad.mit.edu	37	1	248262729	248262729	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248262729C>A	uc001ids.3	+	2	389	c.52C>A	c.(52-54)Ccc>Acc	p.P18T	OR2L13_uc021pmc.1_Missense_Mutation_p.P18T	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P18P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			GGGTCTGCTTCCCCCAAATCA	0.403000														59			61		2.19297e-23	2.63183e-23	0.003610	1	0
NHS	4810	broad.mit.edu	37	X	17744950	17744950	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:17744950C>T	uc011mix.2	+	6	3062	c.2724C>T	c.(2722-2724)acC>acT	p.T908T	NHS_uc004cxx.3_Silent_p.T887T|NHS_uc004cxy.3_Silent_p.T731T|NHS_uc004cxz.3_Silent_p.T710T|NHS_uc004cya.3_Silent_p.T610T	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	887						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATCTTCCCACCAAGCAGGAAC	0.473000														46			30		0	0	0.002836	0	0
RP1	6101	broad.mit.edu	37	8	55542424	55542424	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:55542424C>T	uc003xsd.1	+	3	6130	c.5982C>T	c.(5980-5982)ttC>ttT	p.F1994F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1994					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)			AGTTTTATTTCAGTAACACAT	0.303000														12			6		0	0	0.001984	0	0
CEP164	22897	broad.mit.edu	37	11	117252450	117252450	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:117252450C>T	uc001prc.3	+	12	1590	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	CEP164_uc001prb.3_Silent_p.A484A|CEP164_uc010rxk.1_Silent_p.A455A|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	481	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGAGCGGGCCCAGAGTCCCC	0.662000														2			4		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179566927	179566927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179566927C>T	uc021vsy.1	-	104	26972	c.26747G>A	c.(26746-26748)aGa>aAa	p.R8916K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5577K|TTN_uc010fre.1_Missense_Mutation_p.R27K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9843	Ig-like 72.						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)			TGCCGTGCTTCTTGCTTCACC	0.483000														25			9		0	0	0.004482	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333303	227333303	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:227333303T>A	uc001hqr.3	-	7	1973	c.1030A>T	c.(1030-1032)Agt>Tgt	p.S344C	CDC42BPA_uc001hqs.3_Missense_Mutation_p.S344C|CDC42BPA_uc009xes.3_Missense_Mutation_p.S344C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.S344C	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	344	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S344C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAATTCCACTGAAAAATGGG	0.368000														66			24		0	0	0.004656	0	0
NIN	51199	broad.mit.edu	37	14	51219250	51219250	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:51219250G>C	uc001wyi.3	-	20	5127	c.4936C>G	c.(4936-4938)Cgt>Ggt	p.R1646G	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R1646G|NIN_uc001wyk.3_Missense_Mutation_p.R933G|NIN_uc001wyo.3_Missense_Mutation_p.R1646G	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1646					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACTTTACAACGTTCCAGTTCT	0.393000			T	PDGFRB	MPD									88			84		0	0	0.003610	0	0
TBC1D24	57465	broad.mit.edu	37	16	2569311	2569311	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:2569311C>T	uc002cqm.3	+	1	1173	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	ATP6V0C_uc021tav.1_Missense_Mutation_p.P58S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.P58S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.	0					neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTCCATCATCCCAGTGGTCAT	0.597000														26			14		0	0	0.001855	0	0
CCDC111	201973	broad.mit.edu	37	4	185606756	185606756	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:185606756C>T	uc003iwk.2	+	10	1646	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CCDC111_uc003iwj.2_Missense_Mutation_p.P404S|CCDC111_uc003iwm.2_Missense_Mutation_p.P276S|CCDC111_uc003iwn.2_Missense_Mutation_p.P145S	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	405					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CTACTTTTTCCCAGAAGAATT	0.299000														31			19		0	0	0.002780	0	0
ACER1	125981	broad.mit.edu	37	19	6306862	6306862	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:6306862C>T	uc002mel.2	-	5	736	c.658G>A	c.(658-660)Ggc>Agc	p.G220S		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	220						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTGACCATGCCATAAGGGAAG	0.597000														13			6		0	0	0.001168	0	0
NOS1	4842	broad.mit.edu	37	12	117703256	117703256	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:117703256C>T	uc001twn.2	-	11	2712	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NOS1_uc021ren.1_Missense_Mutation_p.M331I|NOS1_uc021reo.1_Missense_Mutation_p.M331I|NOS1_uc001twm.2_Missense_Mutation_p.M667I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	667					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCATTCTCCATGTGCTTAA	0.597000														6			5		0	0	0.001168	0	0
ADCY8	114	broad.mit.edu	37	8	132002703	132002703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:132002703G>A	uc003ytd.4	-	1	1302	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V	ADCY8_uc010mds.3_Missense_Mutation_p.A349V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	349					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCAGGAAAGCTTGGCGCTG	0.517000										HNSCC(32;0.087)				52			47		0	0	0.003610	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995915	19995915	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:19995915C>T	uc002ktv.1	-	0	1964	c.1860G>A	c.(1858-1860)atG>atA	p.M620I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	620						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGACCCATCCATTTTATCCA	0.398000														50			64		0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106118351	106118351	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:106118351G>A	uc001kyh.3	+	1	396	c.262G>A	c.(262-264)Gat>Aat	p.D88N		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	88										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTCTCAGGATGATCAGACCAC	0.423000														11			5		0	0	0.001168	0	0
C18orf34	374864	broad.mit.edu	37	18	30926233	30926233	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:30926233C>T	uc010xbr.1	-	7	742	c.600G>A	c.(598-600)atG>atA	p.M200I	C18orf34_uc002kxn.2_Missense_Mutation_p.M200I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M200I|C18orf34_uc002kxp.3_Missense_Mutation_p.M200I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	200										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						AGTCAATTTTCATGTTAATCA	0.383000														40			10		0	0	0.008291	0	0
SCN2A	6326	broad.mit.edu	37	2	166243376	166243376	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166243376G>A	uc002udc.3	+	25	4962	c.4672G>A	c.(4672-4674)Gaa>Aaa	p.E1558K	SCN2A_uc002udd.3_Missense_Mutation_p.E1558K|SCN2A_uc002ude.3_Missense_Mutation_p.E1558K|SCN2A_uc021vry.1_Missense_Mutation_p.E58K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1558					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCAGAGTCAAGAAATGACAAA	0.388000														24			16		0	0	0.004990	0	0
ABCB11	8647	broad.mit.edu	37	2	169791706	169791706	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:169791706C>T	uc002ueo.1	-	22	3170	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N	ABCB11_uc010zda.1_Missense_Mutation_p.S457N|ABCB11_uc010zdb.1_Missense_Mutation_p.S491N	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1015	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAACACATAGCTGAAATGGAG	0.438000														66			43		0	0	0.003610	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714034	32714034	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32714034C>T	uc003obx.3	+	3	689	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	211	Connecting peptide.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity	p.A210A(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATTCCAGCCCCTATGTCAGA	0.577000														97			31		0	0	0.008361	0	0
PRPH2	5961	broad.mit.edu	37	6	42689950	42689950	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:42689950C>T	uc003osk.3	-	0	409	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	41					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTTCAATCTTCAGGAACAGTC	0.498000														62			33		0	0	0.001786	0	0
TMC5	79838	broad.mit.edu	37	16	19475337	19475337	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19475337C>T	uc002dgc.4	+	7	2225	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TMC5_uc010vaq.2_Silent_p.F492F|TMC5_uc002dgb.4_Silent_p.F492F|TMC5_uc010var.2_Silent_p.F492F|TMC5_uc002dgd.1_Silent_p.F246F|TMC5_uc002dge.4_Silent_p.F246F|TMC5_uc002dgf.4_Silent_p.F175F|TMC5_uc002dgg.4_Silent_p.F133F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	492						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGTTTTTCACTGGGGTGG	0.512000														24			19		0	0	0.006122	0	0
CAMK1D	57118	broad.mit.edu	37	10	12866523	12866523	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:12866523G>A	uc001ilo.3	+	8	1128	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	CAMK1D_uc001iln.3_Missense_Mutation_p.R298Q	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	298	Autoinhibitory domain (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R298Q(3)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GCCCAGATCCGGAAAAACTTT	0.502000														49			45		0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78264460	78264460	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78264460A>T	uc002jyh.2	+	7	1494	c.1351A>T	c.(1351-1353)Atc>Ttc	p.I451F	RNF213_uc002jyf.3_Missense_Mutation_p.I402F|RNF213_uc021uen.1_Missense_Mutation_p.I402F|RNF213_uc002jyg.1_Missense_Mutation_p.I133F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	402										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAAGTCTTCATCAGAGGAGG	0.517000														29			14		0	0	0.001855	0	0
CXorf57	55086	broad.mit.edu	37	X	105891583	105891584	+	Missense_Mutation	DNP	GG	AA	AA	rs142495888	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:105891583_105891584GG>AA	uc004emi.4	+	10	2096_2097	c.1945_1946GG>AA	c.(1945-1947)gga>AAa	p.G649K	CXorf57_uc004emj.4_Missense_Mutation_p.G552K	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	649								p.K648N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ACAAACAAAGGGAATTAAACCG	0.312000														11			29		0	0	0.004672	0	0
ITGA2	3673	broad.mit.edu	37	5	52386420	52386420	+	Silent	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:52386420C>A	uc003joy.3	+	29	3680	c.3537C>A	c.(3535-3537)ctC>ctA	p.L1179L	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.L1103L|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1179					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCACAGAGCTCAGTAGCTGAA	0.423000														14			7		0.000157383	0.000186347	0.003080	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679660	53679660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:53679660G>A	uc002ehp.3	-	16	2624	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*	RPGRIP1L_uc002eho.4_Nonsense_Mutation_p.R854*|RPGRIP1L_uc010vgy.2_Nonsense_Mutation_p.R854*|RPGRIP1L_uc010cbx.3_Nonsense_Mutation_p.R854*|RPGRIP1L_uc010vgz.1_Nonsense_Mutation_p.R854*	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	854	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTAAGGTATCGATCCAAGTCC	0.373000														231			164		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141796187	141796187	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141796187C>T	uc003vwy.3	+	41	5030	c.4976C>T	c.(4975-4977)gCc>gTc	p.A1659V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1659	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)	CTGGGCCCAGCCTTCCTGGTC	0.587000														28			9		0	0	0.004482	0	0
IFNA7	3444	broad.mit.edu	37	9	21201913	21201913	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:21201913G>A	uc003zop.1	-	0	292	c.252C>T	c.(250-252)atC>atT	p.I84I	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	84					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTCTGCTGGATCATCTCAT	0.478000														21			37		0	0	0.007835	0	0
LARP1	23367	broad.mit.edu	37	5	154185574	154185574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:154185574C>T	uc003lvo.3	+	14	2473	c.2449C>T	c.(2449-2451)Cgt>Tgt	p.R817C	LARP1_uc021ygh.1_Missense_Mutation_p.R689C	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	894							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCATAAGTATCGTAGGCGCTG	0.512000														58			34		0	0	0.006230	0	0
MGAM	8972	broad.mit.edu	37	7	141754686	141754686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141754686C>T	uc003vwy.3	+	26	3346	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1098	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)	TGAAATTCGCCGGAAGAGTAC	0.498000														28			16		0	0	0.003163	0	0
SHB	6461	broad.mit.edu	37	9	37955983	37955983	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:37955983G>A	uc004aax.3	-	3	1691	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	375	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCAGGGGCACGAAGCTGGCGC	0.607000														1			11		0	0	0.008291	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717165	13717165	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13717165G>A	uc001rbt.2	-	12	3186	c.3007C>T	c.(3007-3009)Ctc>Ttc	p.L1003F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1003					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGTCGTAGAGCCCATCGATG	0.592000														15			16		0	0	0.006122	0	0
HPX	3263	broad.mit.edu	37	11	6459651	6459651	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:6459651G>A	uc001mdg.2	-	4	486	c.425C>T	c.(424-426)cCa>cTa	p.P142L	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	142					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGCATCCAGTGGGGATGGGAT	0.498000														18			30		0	0	0.002096	0	0
ANK2	287	broad.mit.edu	37	4	114262932	114262932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:114262932G>A	uc003ibe.4	+	32	4082	c.3982G>A	c.(3982-3984)Gcc>Acc	p.A1328T	ANK2_uc003ibd.4_Missense_Mutation_p.A1319T|ANK2_uc003ibf.4_Missense_Mutation_p.A1328T|ANK2_uc011cgc.2_Missense_Mutation_p.A504T|ANK2_uc003ibg.4_Missense_Mutation_p.A323T|ANK2_uc003ibh.4_Missense_Mutation_p.A2T|ANK2_uc011cgb.1_Missense_Mutation_p.A1343T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1295					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCTTATATGGCCAAATTTGT	0.393000														43			41		0	0	0.006999	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581418	234581418	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:234581418G>A	uc002vus.3	+	0	875	c.838G>A	c.(838-840)Gga>Aga	p.G280R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.G280R	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	283					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTGCCATCAGGGAAAGCCGTT	0.413000														63			63		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38266368	38266368	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:38266368G>A	uc010abx.3	-	3	1237	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Silent_p.F334F|TRPC4_uc001uws.3_Silent_p.F334F|TRPC4_uc010tey.2_Silent_p.F334F|TRPC4_uc010abw.3_Silent_p.F161F|TRPC4_uc010aby.3_Silent_p.F334F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	334					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTCCTATTATGAAACATGTCA	0.473000														31			7		0	0	0.003080	0	0
HDAC9	9734	broad.mit.edu	37	7	18767295	18767295	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18767295C>T	uc003sui.3	+	11	1865	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L	HDAC9_uc003sue.3_Silent_p.L605L|HDAC9_uc011jyd.2_Silent_p.L605L|HDAC9_uc003suh.3_Silent_p.L605L|HDAC9_uc003suj.3_Silent_p.L564L|HDAC9_uc003sua.1_Silent_p.L583L|HDAC9_uc010kue.1_Silent_p.L260L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	605					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACACCGTCTCGTCTCCAGGA	0.592000														10			6		0	0	0.001168	0	0
RASA2	5922	broad.mit.edu	37	3	141231116	141231116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:141231116C>T	uc010huq.1	+	1	245	c.245C>T	c.(244-246)tCt>tTt	p.S82F	RASA2_uc003etz.1_Missense_Mutation_p.S82F|RASA2_uc003eua.1_Missense_Mutation_p.S82F	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	82	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTGGAAAAATCTTTAAGGTTG	0.294000														26			23		0	0	0.004656	0	0
AKAP3	10566	broad.mit.edu	37	12	4737030	4737030	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:4737030C>T	uc001qnb.4	-	3	1282	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	346					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATGAGGGTCCCTGTGACGC	0.493000														24			10		0	0	0.008291	0	0
FAM5B	57795	broad.mit.edu	37	1	177242626	177242626	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:177242626C>T	uc001glf.3	+	4	984	c.672C>T	c.(670-672)gtC>gtT	p.V224V	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.V119V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	224						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTCTCTAGGTCACCGAGACCA	0.502000														38			6		0	0	0.001168	0	0
GABRA3	2556	broad.mit.edu	37	X	151424446	151424446	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151424446G>A	uc010ntk.1	-	4	595	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	119					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.R119fs*6(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGTCTGCCGAAAAAATACA	0.423000														35			12		0	0	0.000978	0	0
SYNE2	23224	broad.mit.edu	37	14	64476688	64476688	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:64476688G>A	uc001xgl.3	+	31	4812	c.4582G>A	c.(4582-4584)Gaa>Aaa	p.E1528K	SYNE2_uc001xgm.3_Missense_Mutation_p.E1528K|SYNE2_uc021ruh.1_Missense_Mutation_p.E1528K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1528					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTAGTCTTGAACAATGTGG	0.328000														15			9		0	0	0.004482	0	0
PSG5	5673	broad.mit.edu	37	19	43680253	43680253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43680253C>T	uc002ovu.3	-	2	609	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E160K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160K(2)|p.E160E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCTTATTCTCCCTGGGTTTT	0.493000														141			88		0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109690269	109690269	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:109690269C>T	uc004bcz.3	+	2	4365	c.4076C>T	c.(4075-4077)tCt>tTt	p.S1359F	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S1207F|ZNF462_uc004bda.3_Missense_Mutation_p.S1207F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1359					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCCCCTCCCTCTCTCACAATG	0.507000														11			27		0	0	0.005443	0	0
TTBK1	84630	broad.mit.edu	37	6	43223526	43223526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:43223526C>T	uc003ouq.1	+	8	1072	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	265	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAAGCACATGCCGTCAGAGTT	0.602000														57			27		0	0	0.005443	0	0
HDAC6	10013	broad.mit.edu	37	X	48674977	48674977	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48674977C>T	uc011mmi.1	+	18	1823	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	HDAC6_uc004dks.1_Silent_p.F576F|HDAC6_uc010nig.1_Silent_p.F424F|HDAC6_uc004dkt.1_Silent_p.F576F|HDAC6_uc011mmk.1_Silent_p.F557F|HDAC6_uc004dkv.1_Silent_p.F224F|HDAC6_uc004dkw.1_Silent_p.F224F|HDAC6_uc004dkx.1_5'Flank	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	576	Histone deacetylase 2.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGTACCTTCGCCTGTGCAC	0.602000														13			18		0	0	0.008871	0	0
MBL2	4153	broad.mit.edu	37	10	54530430	54530430	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:54530430C>T	uc001jjt.3	-	2	369	c.304_splice	c.e2+1	p.D102_splice		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	102					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGGTCCTTACCCGGACTTTTT	0.557000														52			12		0	0	0.001368	0	0
OR2F2	135948	broad.mit.edu	37	7	143632352	143632352	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:143632352G>A	uc011ktv.2	+	0	27	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGACGTGGGTGAGAGAATTTA	0.388000														48			19		0	0	0.001882	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574378	140574378	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140574378C>T	uc003lix.3	+	0	2427	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGCTACCAGTATGAGG	0.622000														55			33		0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179655479	179655479	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179655479C>T	uc021vsy.1	-	10	1981	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.E586K|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	586							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)			GTGGTAGTTTCTTCTTGAGCT	0.423000														50			29		0	0	0.008361	0	0
KCNH5	27133	broad.mit.edu	37	14	63453887	63453887	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:63453887C>T	uc001xfx.3	-	4	503	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	KCNH5_uc001xfy.3_Missense_Mutation_p.R151Q|KCNH5_uc001xfz.1_Missense_Mutation_p.R93Q|KCNH5_uc001xga.3_Missense_Mutation_p.R93Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A150T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGTGTCAATCGGGCAAATTT	0.378000														39			17		0	0	0.008871	0	0
ODZ2	57451	broad.mit.edu	37	5	167625870	167625870	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:167625870C>T	uc010jjd.3	+	15	2886	c.2886C>T	c.(2884-2886)atC>atT	p.I962I	ODZ2_uc003lzr.4_Silent_p.I739I|ODZ2_uc003lzt.4_Silent_p.I335I|ODZ2_uc010jje.3_Silent_p.I233I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCGACCTGATCGCAAATGGAG	0.562000														49			26		0	0	0.006320	0	0
CDH4	1002	broad.mit.edu	37	20	60485517	60485517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:60485517G>A	uc002ybn.2	+	8	1316	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	CDH4_uc002ybr.2_Missense_Mutation_p.V373I|CDH4_uc002ybp.2_Missense_Mutation_p.V336I	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	410	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGACCGTGGTCGCAAACCT	0.532000														26			7		0	0	0.004482	0	0
VWF	7450	broad.mit.edu	37	12	6125396	6125396	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6125396C>T	uc001qnn.1	-	30	5564	c.5314G>A	c.(5314-5316)Gat>Aat	p.D1772N	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1772	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCAAGGCATCCCCTGAGGAT	0.532000														20			4		0	0	0.000248	0	0
FEN1	2237	broad.mit.edu	37	11	61563189	61563189	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:61563189C>T	uc021qkj.1	+	0	356	c.356C>T	c.(355-357)gCc>gTc	p.A119V	FEN1_uc001nsg.3_Missense_Mutation_p.A119V	NM_004111	NP_004102	P39748	FEN1_HUMAN	Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA.	119					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCTGCTGGGGCCGAGCAGGAG	0.587000								Editing and processing nucleases						10			21		0	0	0.001523	0	0
CNGA2	1260	broad.mit.edu	37	X	150912578	150912578	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:150912578C>T	uc004fey.1	+	6	1827	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	535					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGCAATCGACGCACAGC	0.498000														55			34		0	0	0.006230	0	0
EVI5	7813	broad.mit.edu	37	1	93170289	93170289	+	Silent	SNP	C	T	T	rs61735642		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:93170289C>T	uc010otf.2	-	2	304	c.294G>A	c.(292-294)acG>acA	p.T98T	EVI5_uc001dox.3_Silent_p.T98T	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	98	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTACTATCCGTTTCTAACA	0.363000														19			9		0	0	0.008291	0	0
CDHR2	54825	broad.mit.edu	37	5	176004676	176004676	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:176004676C>T	uc021yie.1	+	13	1663	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	CDHR2_uc003mem.2_Silent_p.V463V|CDHR2_uc003men.1_Silent_p.V463V	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	463	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.S462S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTTCTCCGTCGCCATGGTGA	0.637000														30			27		0	0	0.004656	0	0
SLC16A8	23539	broad.mit.edu	37	22	38474640	38474640	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:38474640C>T	uc003auu.3	-	4	1400	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R		NM_013356	NP_037488	O95907	MOT3_HUMAN	Homo sapiens solute carrier family 16, member 8 (monocarboxylic acid transporter 3) (SLC16A8), mRNA.	424					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	ATGAAGACCCCAGCCAGGGCC	0.627000														63			16		0	0	0.006122	0	0
ATF6B	1388	broad.mit.edu	37	6	32085144	32085144	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32085144G>A	uc003nzn.3	-	13	1603	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Nonsense_Mutation_p.Q97*|ATF6B_uc003nzo.3_Nonsense_Mutation_p.Q521*|ATF6B_uc003nzp.1_Nonsense_Mutation_p.Q213*	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	524					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						CGGCCTCTCTGGTGGCGCTGG	0.617000														131			41		0	0	0.003214	0	0
C1orf173	127254	broad.mit.edu	37	1	75086497	75086497	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:75086497G>A	uc001dgg.3	-	7	1140	c.921C>T	c.(919-921)ttC>ttT	p.F307F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.F101F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	307										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCATCCCGGAAGTCAGGAT	0.358000														24			28		0	0	0.007291	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216051	20216051	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20216051C>T	uc010tkt.2	+	0	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGGTTTTATCCACTCTATCA	0.498000														19			9		0	0	0.004482	0	0
FLG	2312	broad.mit.edu	37	1	152284360	152284360	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152284360C>T	uc001ezu.1	-	2	3038	c.3002G>A	c.(3001-3003)aGc>aAc	p.S1001N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1001	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGGAGCTGTCTGCAGA	0.562000									Ichthyosis					268			93		0	0	0.003610	0	0
PDK4	5166	broad.mit.edu	37	7	95224396	95224396	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:95224396C>T	uc003uoa.3	-	1	531	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	PDK4_uc003unz.3_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	71					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATATCAATTTCCTTCAGAATG	0.363000														41			16		0	0	0.004990	0	0
ASB5	140458	broad.mit.edu	37	4	177142748	177142748	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:177142748T>G	uc003iuq.2	-	3	502	c.388A>C	c.(388-390)Aat>Cat	p.N130H	ASB5_uc003iup.2_Missense_Mutation_p.N77H	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	130					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GTGATTGCATTTACCTAAACC	0.428000														22			9		0	0	0.004482	0	0
LUM	4060	broad.mit.edu	37	12	91502014	91502014	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:91502014C>T	uc001tbm.3	-	1	1132	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	248					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GAAAGAATTTCCAGGTATTCC	0.383000														36			13		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262784	140262784	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140262784G>A	uc003lif.2	+	0	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.E311K|PCDHAC2_uc003lid.3_Missense_Mutation_p.E311K	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	326	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAGATTTCGAAGAAAAGAA	0.378000														34			27		0	0	0.004656	0	0
LPHN3	23284	broad.mit.edu	37	4	62903448	62903448	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:62903448G>A	uc010ihh.3	+	21	3561	c.3388_splice	c.e21-1	p.V1130_splice	LPHN3_uc003hcq.4_Splice_Site_p.V1130_splice|LPHN3_uc003hct.3_Splice_Site_p.V514_splice	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAATTGGCTAGGTACGAAAAG	0.358000														24			21		0	0	0.003954	0	0
CHL1	10752	broad.mit.edu	37	3	369855	369855	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:369855C>T	uc003bot.3	+	4	845	c.203C>T	c.(202-204)tCg>tTg	p.S68L	CHL1_uc003bou.3_Missense_Mutation_p.S68L|CHL1_uc003bow.2_Missense_Mutation_p.S68L|CHL1_uc011asi.2_Missense_Mutation_p.S68L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	68	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S68L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTAGATTTTCGTGGACTAAG	0.338000														21			28		0	0	0.008361	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476765	140476765	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140476765C>T	uc003lil.3	+	0	2529	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	PCDHB2_uc003lim.1_Silent_p.F458F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	797					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)			GCTTTGAATTCACTTAAGTGT	0.423000														53			31		0	0	0.003271	0	0
C1orf227	149643	broad.mit.edu	37	1	213009459	213009459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:213009459C>T	uc001hjq.3	-	1	141	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA.	11										kidney(1)|large_intestine(1)|lung(1)	3						CATGTTTTTTCATTATTTCAA	0.358000														81			21		0	0	0.003330	0	0
SHH	6469	broad.mit.edu	37	7	155596253	155596253	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:155596253G>A	uc003wmk.1	-	2	881	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Missense_Mutation_p.R157C	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	244					CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	p.R244C(2)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTCGTCGCGGTCCAGGAAA	0.697000														9			9		0	0	0.006214	0	0
C2orf42	54980	broad.mit.edu	37	2	70408972	70408972	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:70408972G>A	uc002sgh.3	-	2	474	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	49										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GCGGAATATGGTTCCACATGT	0.512000														36			19		0	0	0.007413	0	0
OTOGL	283310	broad.mit.edu	37	12	80733024	80733024	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:80733024C>T	uc001szd.3	+	41	5009	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACTTGTCATCCTACACAGAA	0.353000														86			55		0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7674777	7674777	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:7674777C>T	uc002giu.1	+	26	4506	c.4492C>T	c.(4492-4494)Cat>Tat	p.H1498Y		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1498	Stem (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)				CCGGAGCACCCATCACCCAGG	0.527000														15			11		0	0	0.000978	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798322	140798322	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140798322G>A	uc003lkn.2	+	0	1063	c.896G>A	c.(895-897)gGa>gAa	p.G299E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.G299E|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	300	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACTACAGGAAACATTCTA	0.438000														11			7		0	0	0.001984	0	0
APCDD1	147495	broad.mit.edu	37	18	10471870	10471870	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:10471870T>A	uc002kom.4	+	2	940	c.586T>A	c.(586-588)Tgt>Agt	p.C196S		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	196					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGAGAACGGCTGTGAGTGCAC	0.622000														25			70		0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17053297	17053297	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:17053297A>G	uc011awc.2	+	2	2531	c.2435A>G	c.(2434-2436)aAc>aGc	p.N812S	PLCL2_uc011awd.2_Missense_Mutation_p.N694S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	820	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCAAATCAACCTGCCTGAA	0.443000														49			14		0	0	0.003163	0	0
COL19A1	1310	broad.mit.edu	37	6	70890237	70890237	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:70890237C>T	uc003pfc.1	+	42	2818	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	901	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCAGGAGTTCCAGGGGAACC	0.453000														38			19		0	0	0.003330	0	0
TPTE	7179	broad.mit.edu	37	21	10934106	10934106	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:10934106C>T	uc002yip.1	-	15	1239	c.871G>A	c.(871-873)Gat>Aat	p.D291N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D273N|TPTE_uc002yir.1_Missense_Mutation_p.D253N|TPTE_uc010gkv.1_Missense_Mutation_p.D153N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	291	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D291Y(2)|p.D273Y(2)|p.V291I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTTAGGATCGTAAGCTCTT	0.308000														87			14		0	0	0.002450	0	0
COL6A3	1293	broad.mit.edu	37	2	238247693	238247693	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:238247693G>A	uc002vwl.2	-	38	8817	c.8532C>T	c.(8530-8532)ccC>ccT	p.P2844P	COL6A3_uc002vwo.2_Silent_p.P2638P|COL6A3_uc010znj.1_Silent_p.P2237P|COL6A3_uc002vwj.2_Silent_p.P225P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2844	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTTCTTTGTGGGTTGGTCCC	0.388000														28			20		0	0	0.002780	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801225	185801225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:185801225G>A	uc002uph.3	+	3	1696	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	368						intracellular	zinc ion binding	p.N367Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATGTCTAATGATTGCATATC	0.388000														22			9		0	0	0.006214	0	0
TXK	7294	broad.mit.edu	37	4	48097181	48097181	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:48097181G>A	uc003gxx.4	-	6	646	c.560C>T	c.(559-561)tCc>tTc	p.S187F	TXK_uc003gxy.1_Missense_Mutation_p.S187F	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	187	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CATAAATACGGAAATTGTGTA	0.348000														16			5		0	0	0.001168	0	0
DACH1	1602	broad.mit.edu	37	13	72053391	72053391	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:72053391C>T	uc021rkj.1	-	7	2209	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	DACH1_uc021rkk.1_Missense_Mutation_p.E448K|DACH1_uc021rkl.1_Missense_Mutation_p.E394K	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	646					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCAGTTTTTTCCAGTTGGACC	0.373000														27			18		0	0	0.001523	0	0
PNPLA1	285848	broad.mit.edu	37	6	36275387	36275387	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:36275387A>T	uc010jwf.2	+	7	1493	c.1493A>T	c.(1492-1494)aAc>aTc	p.N498I	PNPLA1_uc010jwe.1_Missense_Mutation_p.N412I|PNPLA1_uc003olw.1_Missense_Mutation_p.N403I	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	498					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAAGACTCAAACTGGGTGAAT	0.493000														48			18		0	0	0.007413	0	0
PLA1A	51365	broad.mit.edu	37	3	119325753	119325753	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:119325753G>A	uc003ecu.3	+	1	272	c.206G>A	c.(205-207)gGa>gAa	p.G69E	PLA1A_uc003ecv.3_Missense_Mutation_p.G69E|PLA1A_uc011bjc.2_Intron|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	69					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAGTAGAAGGAAGCAGTGAC	0.478000														68			63		0	0	0.003610	0	0
RUNDC1	146923	broad.mit.edu	37	17	41142437	41142437	+	Silent	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:41142437T>A	uc002ici.1	+	3	972	c.960T>A	c.(958-960)ccT>ccA	p.P320P		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	320										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCAGAACGCCTCCAGGAAACA	0.532000														41			24		0	0	0.003954	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167534	27167534	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:27167534T>C	uc002rhu.4	+	11	1609	c.1451T>C	c.(1450-1452)gTt>gCt	p.V484A	DPYSL5_uc002rhv.4_Missense_Mutation_p.V484A|DPYSL5_uc021vev.1_Missense_Mutation_p.V484A	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	484					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTAAAGGTTAGAGGAGTG	0.567000														43			12		0	0	0.001855	0	0
FCGBP	8857	broad.mit.edu	37	19	40363205	40363205	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:40363205C>T	uc002omp.4	-	31	14873	c.14865G>A	c.(14863-14865)caG>caA	p.Q4955Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4955	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTGGTCGTCTGCAGAACCA	0.667000														17			11		0	0	0.000978	0	0
JARID2	3720	broad.mit.edu	37	6	15496885	15496885	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:15496885G>A	uc003nbj.3	+	6	1673	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	JARID2_uc011diu.1_Missense_Mutation_p.E341K|JARID2_uc011div.2_Missense_Mutation_p.E305K|JARID2_uc011diw.1_Missense_Mutation_p.E439K	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	477					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGCCCCGGCCGAGAGAGGTCT	0.677000														27			8		0	0	0.004482	0	0
GPR6	2830	broad.mit.edu	37	6	110301029	110301029	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:110301029C>T	uc011eav.2	+	2	1003	c.759C>T	c.(757-759)ttC>ttT	p.F253F	GPR6_uc011eaw.2_Silent_p.F238F|GPR6_uc003ptu.3_Silent_p.F238F|GPR6_uc021zds.1_Silent_p.F238F	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	238						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TCATGGTCTTCGGCATCATGC	0.697000														5			3		0	0	0.004672	0	0
PLA2R1	22925	broad.mit.edu	37	2	160801487	160801487	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:160801487C>T	uc002ube.2	-	27	4286	c.4074G>A	c.(4072-4074)agG>agA	p.R1358R	PLA2R1_uc010zcp.2_Silent_p.R1356R	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1358	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCAGGGATCCTCAAGGCAA	0.448000														46			22		0	0	0.001882	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432355	107432355	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:107432355G>A	uc003ver.2	-	3	513	c.302C>T	c.(301-303)cCc>cTc	p.P101L	SLC26A3_uc003ves.2_Missense_Mutation_p.P66L	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	101					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATAGACTGGGGGAATGTCGAC	0.458000														37			23		0	0	0.002299	0	0
MYO3B	140469	broad.mit.edu	37	2	171092559	171092559	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:171092559C>T	uc002ufy.3	+	6	805	c.662C>T	c.(661-663)tCc>tTc	p.S221F	MYO3B_uc002ufv.3_Missense_Mutation_p.S208F|MYO3B_uc010fqb.1_Missense_Mutation_p.S221F|MYO3B_uc002ufz.3_Missense_Mutation_p.S221F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.S208F	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	221	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACGTCTGGTCCTTGGGGATC	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			32		0	0	0.001786	0	0
PI4KA	5297	broad.mit.edu	37	22	21173974	21173974	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:21173974C>T	uc002zsz.4	-	5	831	c.570G>A	c.(568-570)gaG>gaA	p.E190E	PI4KA_uc010gsq.2_Silent_p.E276E	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	190					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCAGGGTACCCTCCTGACAGA	0.552000														45			55		0	0	0.003610	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098648	60098649	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:60098648_60098649GG>TA	uc001sqs.3	+	2	365_366	c.66_67GG>TA	c.(64-69)gtggtt>gtTAtt	p.V23I	SLC16A7_uc001sqt.3_Missense_Mutation_p.V23I|SLC16A7_uc001squ.3_Missense_Mutation_p.V23I|SLC16A7_uc009zqi.3_5'UTR|SLC16A7_uc010ssi.2_5'UTR	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	23						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GTTGGATTGTGGTTGGAGCAGC	0.455000														13			6		0	0	0.004672	0	0
ZNF90	7643	broad.mit.edu	37	19	20228855	20228855	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:20228855G>A	uc002nor.2	+	3	631	c.492G>A	c.(490-492)aaG>aaA	p.K164K	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	164						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I165fs*26(2)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ACAGACATAAGATAAGAGATA	0.343000														5			6		0	0	0.001168	0	0
GRHL2	79977	broad.mit.edu	37	8	102570809	102570809	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:102570809C>T	uc010mbu.3	+	3	777	c.447C>T	c.(445-447)atC>atT	p.I149I	GRHL2_uc011lhi.1_Silent_p.I149I	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	149						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCTCTGCCATCATCCCGGTGT	0.527000														38			12		0	0	0.000978	0	0
ZNF335	63925	broad.mit.edu	37	20	44581340	44581340	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44581340G>A	uc002xqw.3	-	18	2834	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	ZNF335_uc002xqv.3_Missense_Mutation_p.P16L|ZNF335_uc010zxk.2_Missense_Mutation_p.P749L	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTCTCCTGCGGGCTCCTCGCT	0.572000														58			10		0	0	0.008291	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825582	34825582	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:34825582T>C	uc003oju.4	+	12	1889	c.1655T>C	c.(1654-1656)tTt>tCt	p.F552S	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	552								p.L551F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGAAACCTCTTTTGCCTGGAT	0.433000														46			60		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196822128	196822128	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196822128C>T	uc002utj.4	-	18	3036	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	979	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D978N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAGCCATTCATCCAGAATC	0.478000														20			15		0	0	0.004007	0	0
KIAA0825	285600	broad.mit.edu	37	5	93859772	93859772	+	Missense_Mutation	SNP	C	T	T	rs147120237		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:93859772C>T	uc011cuk.2	-	3	420	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	KIAA0825_uc003kkp.2_Missense_Mutation_p.E55K	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	55								p.S54Y(1)|p.S54S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTGTTAATTTCGGACTGTATC	0.323000														21			6		0	0	0.001984	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734426	12734426	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:12734426C>T	uc004cuz.2	+	14	2354	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A	FRMPD4_uc011mij.2_Silent_p.A608A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	616					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGGGGAGGCCCCCTGTGAGG	0.537000														55			19		0	0	0.006122	0	0
DIDO1	11083	broad.mit.edu	37	20	61511017	61511017	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:61511017C>T	uc002ydr.2	-	15	6603	c.6291G>A	c.(6289-6291)gaG>gaA	p.E2097E	DIDO1_uc002yds.2_Silent_p.E2097E	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2097					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAGCGGCTTCTCTTTGGGCC	0.662000														69			110		0	0	0.003610	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943069	232943069	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:232943069T>A	uc001hvh.2	+	0	2432	c.2300T>A	c.(2299-2301)aTt>aAt	p.I767N		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	625	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GCAAATTCCATTATTCCAGAA	0.348000														97			32		0	0	0.006230	0	0
ATP11A	23250	broad.mit.edu	37	13	113487183	113487183	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:113487183G>A	uc001vsj.4	+	13	1493	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	ATP11A_uc001vsi.4_Missense_Mutation_p.E469K|ATP11A_uc001vsm.1_Missense_Mutation_p.E345K	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	469					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGAGCGCGAGGAGCTGTTTTT	0.572000														106			34		0	0	0.005524	0	0
OR1B1	347169	broad.mit.edu	37	9	125391730	125391730	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:125391730G>A	uc011lyz.2	-	0	85	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGAAGAAGAGGAGAGTGTAG	0.507000														9			18		0	0	0.007413	0	0
USH2A	7399	broad.mit.edu	37	1	216061779	216061779	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216061779C>T	uc001hku.1	-	40	8599	c.8212G>A	c.(8212-8214)Gat>Aat	p.D2738N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2738	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGACTGCATCGGGTTCCAGC	0.502000										HNSCC(13;0.011)				29			13		0	0	0.001855	0	0
DMBT1	1755	broad.mit.edu	37	10	124345836	124345836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:124345836C>T	uc001lgk.1	+	15	1826	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	DMBT1_uc001lgl.1_Missense_Mutation_p.P564S|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.P574S|DMBT1_uc021qag.1_Missense_Mutation_p.P564S|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.P574S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	574	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGAGCTGCCCCCACAATGG	0.572000														38			35		0	0	0.004289	0	0
CLDN4	1364	broad.mit.edu	37	7	73245539	73245539	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:73245539C>T	uc003tzi.4	+	0	347	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	3					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ACAATGGCCTCCATGGGGCTA	0.657000														40			20		0	0	0.002780	0	0
ABCC10	89845	broad.mit.edu	37	6	43412002	43412002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:43412002C>T	uc003ouy.1	+	11	2815	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	ABCC10_uc003ouz.1_Missense_Mutation_p.A839V|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	867						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGGAGGGCGCCGTGGCCTTG	0.587000														20			11		0	0	0.000978	0	0
TBR1	10716	broad.mit.edu	37	2	162274197	162274197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:162274197C>T	uc002ubw.1	+	1	1005	c.703C>T	c.(703-705)Cct>Tct	p.P235S	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	235						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCGCATGTTTCCTTTTTTAAG	0.403000														50			22		0	0	0.004656	0	0
PCYT1B	9468	broad.mit.edu	37	X	24580541	24580541	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:24580541T>A	uc004dbi.3	-	7	1212	c.979A>T	c.(979-981)Agc>Tgc	p.S327C	PCYT1B_uc004dbk.4_Intron|PCYT1B_uc004dbj.3_Missense_Mutation_p.S309C	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	327						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGGGACCGGCTCCGGGTTGGG	0.592000														14			8		0	0	0.004482	0	0
ITIH3	3699	broad.mit.edu	37	3	52831138	52831138	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:52831138T>G	uc003dfv.2	+	4	440	c.404T>G	c.(403-405)tTg>tGg	p.L135W	ITIH3_uc011bek.1_Missense_Mutation_p.L135W	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	135	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGGAGGAAGTTGGAGAAGTTC	0.612000														6			5		0	0	0.001168	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958713	111958713	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111958713C>T	uc003dyu.3	-	11	1642	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.A426T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	474					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AGTGTAATTGCTTTCTCAATC	0.328000														10			18		0	0	0.008871	0	0
SCLT1	132320	broad.mit.edu	37	4	129873956	129873956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:129873956G>A	uc003igp.2	-	13	1692	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	SCLT1_uc003ign.2_Nonsense_Mutation_p.R60*|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	396						centrosome		p.S395F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGTTAATCGAGAAATTTGT	0.259000														43			15		0	0	0.002450	0	0
EMR2	30817	broad.mit.edu	37	19	14883198	14883198	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:14883198G>A	uc002mzp.1	-	4	767	c.311C>T	c.(310-312)tCt>tTt	p.S104F	EMR2_uc010xnw.1_Missense_Mutation_p.S104F|EMR2_uc002mzo.1_Missense_Mutation_p.S104F|EMR2_uc002mzq.1_Missense_Mutation_p.S104F|EMR2_uc002mzr.1_Missense_Mutation_p.S104F|EMR2_uc002mzs.1_Missense_Mutation_p.S104F|EMR2_uc002mzt.1_Missense_Mutation_p.S104F|EMR2_uc002mzu.1_Missense_Mutation_p.S104F|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	104	EGF-like 2; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TTTTGCCCCAGAAACAGGCTC	0.522000														49			22		0	0	0.003954	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474488	84474488	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:84474488A>T	uc010chj.3	+	13	1324	c.1235A>T	c.(1234-1236)cAa>cTa	p.Q412L	ATP2C2_uc002fhx.3_Missense_Mutation_p.Q412L|ATP2C2_uc002fhy.3_Missense_Mutation_p.Q429L|ATP2C2_uc002fhz.3_Missense_Mutation_p.Q261L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	412					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TATGACGGTCAAGGGACTGTG	0.507000														26			9		0	0	0.006214	0	0
AKAP3	10566	broad.mit.edu	37	12	4736484	4736484	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:4736484G>A	uc001qnb.4	-	3	1828	c.1584C>T	c.(1582-1584)atC>atT	p.I528I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	528					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGCAGACACGATCAGGTCCT	0.517000														17			7		0	0	0.003080	0	0
GC	2638	broad.mit.edu	37	4	72629572	72629572	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:72629572C>T	uc010iif.3	-	5	707	c.612G>A	c.(610-612)atG>atA	p.M204I	GC_uc003hge.3_Missense_Mutation_p.M185I|GC_uc021xpb.1_Missense_Mutation_p.M185I	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	185	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGGACCCTACCATAGAAAGAT	0.368000														32			25		0	0	0.004656	0	0
LECT1	11061	broad.mit.edu	37	13	53307392	53307392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:53307392C>T	uc001vhf.2	-	2	427	c.316G>A	c.(316-318)Gga>Aga	p.G106R	LECT1_uc001vhg.2_Missense_Mutation_p.G106R|LECT1_uc001vhh.2_Missense_Mutation_p.G133R	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	106	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TCTTCAGCTCCACTTCCCATT	0.383000														55			11		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179427557	179427557	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179427557T>C	uc021vsy.1	-	274	75823	c.75598A>G	c.(75598-75600)Agt>Ggt	p.S25200G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S18895G|TTN_uc021vta.1_Missense_Mutation_p.S18828G|TTN_uc021vtb.1_Missense_Mutation_p.S18703G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26127	Fibronectin type-III 83.						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)			ACAGGGGCACTTGGTGAGTCA	0.403000														11			4		0	0	0.000248	0	0
BRD9	65980	broad.mit.edu	37	5	889228	889228	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:889228C>T	uc003jbq.3	-	4	681	c.514G>A	c.(514-516)Gga>Aga	p.G172R	BRD9_uc003jbl.3_Missense_Mutation_p.G56R|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.G119R|BRD9_uc003jbo.3_Missense_Mutation_p.G56R|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	172	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATTGAATATCCAGGAGCAATT	0.343000														10			6		0	0	0.001168	0	0
PLCE1	51196	broad.mit.edu	37	10	95791576	95791576	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95791576C>T	uc001kjk.3	+	1	1407	c.773C>T	c.(772-774)aCc>aTc	p.T258I	PLCE1_uc010qnx.2_Missense_Mutation_p.T258I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	258					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.D257D(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CATTGTGACACCTTGAATGAT	0.363000														16			11		0	0	0.008291	0	0
CNN2	1265	broad.mit.edu	37	19	1032430	1032430	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1032430C>T	uc002lqu.3	+	2	588	c.225C>T	c.(223-225)atC>atT	p.I75I	CNN2_uc002lqt.1_Silent_p.I75I|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.3_Silent_p.I75I|CNN2_uc010xgb.2_Silent_p.I75I|CNN2_uc010xgc.2_Silent_p.I75I	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	75	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCAAGATCAACCGCTCCA	0.622000														49			23		0	0	0.002780	0	0
OR2B3	442184	broad.mit.edu	37	6	29054298	29054298	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29054298G>A	uc003nlx.3	-	0	793	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.G242E(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AATCATGTGGGACCCACATGT	0.453000														24			11		0	0	0.008291	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220149	13220149	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13220149C>T	uc001rbi.3	+	6	1084	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	KIAA1467_uc021qvn.1_Intron	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	354						integral to membrane		p.S354*(2)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGAGACAGCTCACCACCTTCT	0.468000														31			21		0	0	0.001523	0	0
PSG3	5671	broad.mit.edu	37	19	43237007	43237007	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43237007C>T	uc002oue.3	-	2	770	c.638G>A	c.(637-639)gGa>gAa	p.G213E	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	213	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTCATAGGGTCCTGCAGTGTA	0.502000														140			91		0	0	0.003610	0	0
PARM1	25849	broad.mit.edu	37	4	75938326	75938326	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:75938326G>A	uc003hih.2	+	1	988	c.735G>A	c.(733-735)gtG>gtA	p.V245V		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	245					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTCCCAGGGTGATCATGCAGG	0.473000														20			17		0	0	0.004990	0	0
MAP7D2	256714	broad.mit.edu	37	X	20071000	20071000	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:20071000G>A	uc010nfo.2	-	4	708	c.591C>T	c.(589-591)gaC>gaT	p.D197D	MAP7D2_uc004czq.2_Silent_p.D90D|MAP7D2_uc011mji.2_Silent_p.D153D|MAP7D2_uc004czr.2_Silent_p.D197D|MAP7D2_uc011mjj.2_Intron|MAP7D2_uc004czs.1_Silent_p.D186D	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	197										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ACTTGCCTCGGTCTGGGGAAT	0.453000														39			15		0	0	0.004007	0	0
DYSF	8291	broad.mit.edu	37	2	71840485	71840485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:71840485C>T	uc010fen.3	+	39	4550	c.4409C>T	c.(4408-4410)cCt>cTt	p.P1470L	DYSF_uc010fei.3_Missense_Mutation_p.P1469L|DYSF_uc010feh.3_Missense_Mutation_p.P1438L|DYSF_uc002sig.4_Missense_Mutation_p.P1438L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1483L|DYSF_uc010fee.3_Missense_Mutation_p.P1452L|DYSF_uc010fef.3_Missense_Mutation_p.P1469L|DYSF_uc002sie.3_Missense_Mutation_p.P1452L|DYSF_uc010feo.3_Missense_Mutation_p.P1484L|DYSF_uc010fej.3_Missense_Mutation_p.P1439L|DYSF_uc010fel.3_Missense_Mutation_p.P1439L|DYSF_uc010fem.3_Missense_Mutation_p.P1453L|DYSF_uc002sif.3_Missense_Mutation_p.P1453L|DYSF_uc010fek.3_Missense_Mutation_p.P1470L|DYSF_uc010yqy.2_Missense_Mutation_p.P333L|DYSF_uc010yqz.2_Missense_Mutation_p.P192L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1452						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACTCAGTCCTGGGGAAGAC	0.622000														11			10		0	0	0.001368	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101771	135101771	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:135101771G>A	uc010qvc.1	-	11	2025	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	TUBGCP2_uc001lmf.1_Silent_p.F121F|TUBGCP2_uc001lmg.1_Silent_p.F528F|TUBGCP2_uc010qvd.1_Silent_p.F398F|TUBGCP2_uc009ybk.1_Silent_p.F528F|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	528					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGAAGTGCACGAAGAAGTCGC	0.677000														27			12		0	0	0.001368	0	0
SPICE1	152185	broad.mit.edu	37	3	113218403	113218403	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:113218403C>T	uc003eag.4	-	3	465	c.174G>A	c.(172-174)tcG>tcA	p.S58S	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc011bie.1_Silent_p.S70S|SPICE1_uc003eai.1_Silent_p.S58S	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	58					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTCTATTCTTCGATTTGTGTA	0.363000														14			5		0	0	0.001168	0	0
TARSL2	123283	broad.mit.edu	37	15	102252144	102252144	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:102252144G>C	uc002bxm.3	-	4	806	c.751C>G	c.(751-753)Cac>Gac	p.H251D	TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	251					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TAGCACAGGTGGCCTCCATAG	0.468000														17			4		0	0	0.000248	0	0
CD96	10225	broad.mit.edu	37	3	111298075	111298075	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111298075G>A	uc003dxw.3	+	4	963	c.793G>A	c.(793-795)Gtt>Att	p.V265I	CD96_uc003dxv.3_Missense_Mutation_p.V249I|CD96_uc003dxx.3_Missense_Mutation_p.V249I|CD96_uc010hpy.1_Missense_Mutation_p.V249I	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	265					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CACAGTCAAGGTTTTTGGTAA	0.502000									Opitz Trigonocephaly syndrome					25			25		0	0	0.005443	0	0
TTC7B	145567	broad.mit.edu	37	14	91155911	91155911	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:91155911C>T	uc001xyp.3	-	6	1045	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	308							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACGGGCTCTCCGAGTGAGAGT	0.502000														11			9		0	0	0.006214	0	0
AAGAB	79719	broad.mit.edu	37	15	67501878	67501878	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:67501878C>T	uc002aqk.4	-	5	645	c.540G>A	c.(538-540)agG>agA	p.R180R	AAGAB_uc010uju.2_Silent_p.R71R	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	Homo sapiens alpha- and gamma-adaptin binding protein (AAGAB), mRNA.	180					protein transport	cytoplasm		p.R180S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGCCTTGGTTCCTATCTGAAA	0.373000														73			53		0	0	0.003610	0	0
CHRD	8646	broad.mit.edu	37	3	184102353	184102353	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:184102353C>T	uc003fov.3	+	12	1715	c.1469C>T	c.(1468-1470)gCc>gTc	p.A490V	CHRD_uc003fow.3_Missense_Mutation_p.A120V|CHRD_uc003fox.3_Missense_Mutation_p.A490V|CHRD_uc003foy.3_Missense_Mutation_p.A120V|CHRD_uc010hyc.3_Missense_Mutation_p.A80V|CHRD_uc011brr.2_Missense_Mutation_p.A120V	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	490	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCTGGGTGCCCGAGGGGCT	0.622000														51			79		0	0	0.003610	0	0
USP42	84132	broad.mit.edu	37	7	6189901	6189901	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:6189901C>T	uc011jwo.1	+	12	2197	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	USP42_uc010kth.1_Missense_Mutation_p.P625S|USP42_uc011jwp.2_Missense_Mutation_p.P692S|USP42_uc011jwq.2_Missense_Mutation_p.P499S|USP42_uc011jwr.1_Missense_Mutation_p.P537S	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	692					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)		CTCAGAAAATCCCTTTGCTAA	0.572000														14			8		0	0	0.006214	0	0
RALGDS	5900	broad.mit.edu	37	9	136029372	136029372	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:136029372C>T	uc004ccw.3	-	6	917	c.636G>A	c.(634-636)cgG>cgA	p.R212R	RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Silent_p.R195R|RALGDS_uc010nac.1_Silent_p.R76R|RALGDS_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCCACGGGTTCCGAAACACCA	0.612000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									16			29		0	0	0.008361	0	0
CDH12	1010	broad.mit.edu	37	5	21854788	21854789	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:21854788_21854789GG>AA	uc010iuc.2	-	3	1095_1096	c.637_638CC>TT	c.(637-639)ccc>TTc	p.P213F	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.P213F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	213	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACCTGTCTTGGGATCAATAGAG	0.396000										HNSCC(59;0.17)				16			5		0	0	0.004672	0	0
LRBA	987	broad.mit.edu	37	4	151827463	151827463	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:151827463A>T	uc010ipj.3	-	11	1832	c.1588T>A	c.(1588-1590)Tat>Aat	p.Y530N	LRBA_uc003ilu.4_Missense_Mutation_p.Y530N|LRBA_uc010ipk.1_Missense_Mutation_p.Y449N	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	530						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCAAGGCTATATCCTATTACC	0.363000														37			47		0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117700253	117700253	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:117700253G>A	uc003pxp.1	-	16	2765	c.2566C>T	c.(2566-2568)Cac>Tac	p.H856Y	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	856					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGTACAGGTGAATACATTGA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									10			15		0	0	0.004007	0	0
STAT6	6778	broad.mit.edu	37	12	57493220	57493220	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:57493220G>A	uc009zpg.3	-	15	1897	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	STAT6_uc009zpe.3_Missense_Mutation_p.S583F|STAT6_uc001sna.3_Missense_Mutation_p.S583F|STAT6_uc009zpf.3_Missense_Mutation_p.S583F|STAT6_uc010srb.2_Missense_Mutation_p.S473F|STAT6_uc010src.2_Missense_Mutation_p.S473F|STAT6_uc010srd.2_Missense_Mutation_p.S473F	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	583	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TATCTGTGGAGAGCCTATGGT	0.527000														28			25		0	0	0.003954	0	0
OR51A7	119687	broad.mit.edu	37	11	4928737	4928737	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4928737C>T	uc010qyq.2	+	0	138	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCACCATTCTCTTTATTATAA	0.498000														10			31		0	0	0.001786	0	0
ZWILCH	55055	broad.mit.edu	37	15	66797720	66797720	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:66797720G>A	uc002aqb.3	+	0	290	c.44G>A	c.(43-45)cGt>cAt	p.R15H	RPL4_uc002apv.3_5'Flank|RPL4_uc002apx.3_5'UTR|RPL4_uc010ujq.2_5'Flank|SNORD16_uc010bht.3_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'UTR|ZWILCH_uc002aqa.3_5'UTR|ZWILCH_uc010bhv.3_5'UTR	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	15					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTATTCTCGTCTCCTTCAG	0.592000														49			40		0	0	0.003214	0	0
PLD2	5338	broad.mit.edu	37	17	4714187	4714187	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:4714187C>T	uc002fzc.3	+	9	1077	c.951C>T	c.(949-951)ttC>ttT	p.F317F	PLD2_uc010vsj.2_Silent_p.F174F|PLD2_uc002fzd.3_Silent_p.F317F	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	317					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCAGAGACTTCCTACAGCTGC	0.622000														34			21		0	0	0.008871	0	0
ACSM1	116285	broad.mit.edu	37	16	20702472	20702472	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:20702472G>A	uc002dhm.1	-	0	107	c.39C>T	c.(37-39)atC>atT	p.I13I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.I13I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	13					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGGATTTGTGGATGCCCCAGA	0.537000														100			24		0	0	0.003330	0	0
LRRC40	55631	broad.mit.edu	37	1	70614327	70614327	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:70614327G>A	uc001der.2	-	13	1684	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	516								p.R516H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTGAAGATACGATATAGAACT	0.338000														21			11		0	0	0.000978	0	0
PCSK1	5122	broad.mit.edu	37	5	95735873	95735873	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:95735873C>T	uc003kls.2	-	9	1453	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	PCSK1_uc010jbi.2_Missense_Mutation_p.R95Q|PCSK1_uc021ybq.1_Missense_Mutation_p.R358Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	405	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R405Q(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCATATCTCGCCAGGTGAG	0.478000														31			28		0	0	0.001786	0	0
THSD1	55901	broad.mit.edu	37	13	52952722	52952722	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:52952722C>T	uc001vgo.3	-	4	1928	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	THSD1_uc001vgp.3_Silent_p.K408K|THSD1_uc010tgz.2_Silent_p.K82K	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	461						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CGTCCGAGTTCTTCCGGAAGC	0.642000														19			14		0	0	0.002450	0	0
TRIP12	9320	broad.mit.edu	37	2	230632389	230632389	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:230632389G>A	uc002vpx.1	-	41	6113	c.6004C>T	c.(6004-6006)Ccc>Tcc	p.P2002S	TRIP12_uc021vxw.1_Missense_Mutation_p.P1987S|TRIP12_uc002vpy.1_Missense_Mutation_p.P1684S|TRIP12_uc002vpw.1_Missense_Mutation_p.P1954S	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1954					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATTACAGAGGGCAAGAAGTCA	0.408000														41			23		0	0	0.003330	0	0
RBM26	64062	broad.mit.edu	37	13	79916915	79916915	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:79916915C>T	uc001vkz.2	-	16	2331	c.2317G>A	c.(2317-2319)Gca>Aca	p.A773T	RBM26_uc001vky.2_Missense_Mutation_p.A744T|RBM26_uc001vla.2_Missense_Mutation_p.A747T|RBM26_uc001vkx.2_Missense_Mutation_p.A483T|RBM26_uc010tia.2_Missense_Mutation_p.A128T	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	771					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATTATTTCTGCTTTATCTTCA	0.303000														18			31		0	0	0.007291	0	0
DDX17	10521	broad.mit.edu	37	22	38891816	38891816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:38891816G>A	uc003avy.4	-	5	968	c.865C>T	c.(865-867)Cga>Tga	p.R289*	DDX17_uc003avx.4_Nonsense_Mutation_p.R289*|DDX17_uc011anu.2_Nonsense_Mutation_p.R202*	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	210	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCCAAGTCTCGAATCTGGGGA	0.398000														40			38		0	0	0.004878	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961433	104961433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:104961433G>A	uc004elz.1	+	6	1602	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	282	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTACTGGATGAAAGGAGAAA	0.423000														19			35		0	0	0.003755	0	0
SSX3	10214	broad.mit.edu	37	X	48214615	48214615	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48214615C>T	uc004djd.1	-	2	163	c.69_splice	c.e2+1	p.K23_splice	SSX3_uc004dje.3_Splice_Site_p.K23_splice|SSX3_uc010nic.3_Splice_Site_p.K23_splice	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						GGTCACCTCACCTTTTGTATC	0.542000														47			24		0	0	0.004656	0	0
IL10	3586	broad.mit.edu	37	1	206941988	206941988	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:206941988C>T	uc001hen.1	-	4	589	c.530G>A	c.(529-531)cGa>cAa	p.R177Q		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	177					B cell differentiation|B cell proliferation|anti-apoptosis|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GTCTCAGTTTCGTATCTTCAT	0.458000														41			12		0	0	0.001855	0	0
RALGPS2	55103	broad.mit.edu	37	1	178777196	178777196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:178777196G>A	uc001glz.3	+	4	568	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RALGPS2_uc001gly.1_Missense_Mutation_p.G77E|RALGPS2_uc010pnb.2_Missense_Mutation_p.G77E	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	77	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCAAGTTGTGGATGGAATAAA	0.308000														21			12		0	0	0.000978	0	0
SETDB1	9869	broad.mit.edu	37	1	150923356	150923356	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:150923356G>A	uc001evu.2	+	12	2193	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	SETDB1_uc009wmf.2_Missense_Mutation_p.R669Q|SETDB1_uc001evv.2_Missense_Mutation_p.R668Q|SETDB1_uc009wmg.2_Missense_Mutation_p.R668Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGTGGACCGAAAGTTTCAG	0.443000														53			17		0	0	0.006122	0	0
ZNF514	84874	broad.mit.edu	37	2	95815961	95815961	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:95815961G>A	uc002sud.1	-	4	859	c.488C>T	c.(487-489)tCc>tTc	p.S163F	ZNF514_uc002sue.1_Missense_Mutation_p.S90F	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTCTTCTTTGGAAATTCCCCA	0.373000														82			42		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164735377	164735377	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:164735377G>A	uc003fei.3	-	30	3781	c.3718C>T	c.(3718-3720)Cgg>Tgg	p.R1240W		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1240	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1240R(2)|p.V1239F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATAATTCCCGAACCTCTGAA	0.343000										HNSCC(35;0.089)				21			5		0	0	0.000602	0	0
DHX30	22907	broad.mit.edu	37	3	47887312	47887312	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:47887312C>T	uc003cru.3	+	9	1488	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	DHX30_uc003crt.3_Silent_p.I315I|DHX30_uc010hjr.1_Silent_p.I382I	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	354						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCGAGCCCATCCTCCGCAAGA	0.592000														26			6		0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032069	10032069	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:10032069C>T	uc010uym.2	-	3	1064	c.754G>A	c.(754-756)Gat>Aat	p.D252N	GRIN2A_uc002czo.4_Missense_Mutation_p.D252N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D95N|GRIN2A_uc002czr.4_Missense_Mutation_p.D252N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	252					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D252N(2)		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)	CAGAAGAAATCATACCCGGTG	0.517000														22			12		0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152331324	152331324	+	Missense_Mutation	SNP	C	T	T	rs145399495		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152331324C>T	uc001ezw.4	-	1	110	c.37G>A	c.(37-39)Gat>Aat	p.D13N	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	13	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAAAACATCAATTACGGTG	0.408000														56			15		0	0	0.004990	0	0
SORL1	6653	broad.mit.edu	37	11	121348870	121348870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:121348870C>T	uc001pxx.3	+	2	575	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	149					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGAAAATTTCAGACAAGTTA	0.438000														6			16		0	0	0.003163	0	0
GHITM	27069	broad.mit.edu	37	10	85909907	85909908	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:85909907_85909908CC>TT	uc001kcs.1	+	6	893_894	c.689_690CC>TT	c.(688-690)tcc>tTT	p.S230F	GHITM_uc010qma.1_Missense_Mutation_p.S161F|GHITM_uc010qmb.1_Missense_Mutation_p.S160F	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	230					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GGAGGCCTCTCCACTGTGGCCA	0.569000														31			39		0	0	0.004672	0	0
NRP2	8828	broad.mit.edu	37	2	206592670	206592670	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:206592670C>T	uc002vaw.3	+	6	1837	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	NRP2_uc002vat.3_Missense_Mutation_p.S349F|NRP2_uc002vau.3_Missense_Mutation_p.S349F|NRP2_uc002vav.3_Missense_Mutation_p.S349F|NRP2_uc002vax.3_Missense_Mutation_p.S349F|NRP2_uc002vay.3_Missense_Mutation_p.S349F|NRP2_uc010fud.3_Missense_Mutation_p.S349F	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	349	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGCGATTTCCAGGGAAACA	0.512000														18			9		0	0	0.006214	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488762	73488762	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:73488762C>T	uc010wsa.2	+	13	2026	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	KIAA0195_uc002jnz.4_Silent_p.L602L|KIAA0195_uc010wsb.2_Silent_p.L242L|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	602					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGAGCGCCTGTGCCGATT	0.637000														59			27		0	0	0.007291	0	0
ZNF341	84905	broad.mit.edu	37	20	32328812	32328812	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:32328812C>T	uc002wzy.3	+	1	156	c.136C>T	c.(136-138)Cca>Tca	p.P46S	ZNF341_uc002wzx.3_Missense_Mutation_p.P46S|ZNF341_uc010geq.3_Silent_p.S21S|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGCTATCCAGCCATTGGGTGA	0.572000														45			11		0	0	0.000978	0	0
BMP10	27302	broad.mit.edu	37	2	69093535	69093535	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:69093535A>C	uc002sez.1	-	1	662	c.503T>G	c.(502-504)tTt>tGt	p.F168C		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	168					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CAGCACTTCAAAAATGGTAAT	0.453000														27			17		0	0	0.006122	0	0
STK19	8859	broad.mit.edu	37	6	31940127	31940127	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31940127C>T	uc003nyv.3	+	1	397	c.269C>T	c.(268-270)cCt>cTt	p.P90L	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.P47L|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.P90L|STK19_uc011dox.1_Missense_Mutation_p.P47L|STK19_uc003nyw.3_Missense_Mutation_p.P90L|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	90						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(2)		skin(5)|upper_aerodigestive_tract(2)	7						CCGGAAGACCCTATTTTCAGG	0.577000														108			39		0	0	0.002222	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18809268	18809268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:18809268C>T	uc002dfl.1	-	2	338	c.269G>A	c.(268-270)aGa>aAa	p.R90K	ARL6IP1_uc010van.1_Missense_Mutation_p.R61K|ARL6IP1_uc010bvz.1_Non-coding_Transcript	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA.	90						integral to membrane	protein binding	p.P89R(1)		breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GCCAAAAATTCTAGGCGCTAG	0.393000														43			22		0	0	0.001882	0	0
ACSL4	2182	broad.mit.edu	37	X	108902616	108902616	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:108902616T>A	uc004eoi.2	-	15	2450	c.1945A>T	c.(1945-1947)Ata>Tta	p.I649L	ACSL4_uc004eoj.2_Missense_Mutation_p.I608L|ACSL4_uc004eok.2_Missense_Mutation_p.I608L	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	649					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TCTTTCAGTATTTCAGCTTCC	0.398000														17			51		0	0	0.003610	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304830	67304830	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67304830C>T	uc002esm.3	+	15	2471	c.2408C>T	c.(2407-2409)tCc>tTc	p.S803F	SLC9A5_uc010cee.3_Missense_Mutation_p.S508F|SLC9A5_uc010vji.2_Missense_Mutation_p.S307F	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	803					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGCCTAGCGTCCCCTCCCTGT	0.607000														29			13		0	0	0.004007	0	0
COL5A3	50509	broad.mit.edu	37	19	10085029	10085029	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:10085029C>T	uc002mmq.1	-	45	3484	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1133	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCGTCATCTCCTTTCTGCCC	0.607000														24			14		0	0	0.002450	0	0
HAT1	8520	broad.mit.edu	37	2	172841174	172841174	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:172841174C>T	uc002uhi.3	+	8	978	c.902C>T	c.(901-903)tCc>tTc	p.S301F	HAT1_uc010fqi.2_Missense_Mutation_p.S136F|HAT1_uc002uhj.3_Missense_Mutation_p.S216F	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	301					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCTGTTTTTCCCGGGAAAAA	0.348000														16			5		0	0	0.000602	0	0
KIF13B	23303	broad.mit.edu	37	8	29033683	29033683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:29033683G>A	uc003xhh.4	-	9	906	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	KIF13B_uc003xhj.2_Missense_Mutation_p.L180F|KIF13B_uc010lvf.1_Missense_Mutation_p.L219F	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	283					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAGACCGAGGGTTGTGAGG	0.393000														9			4		0	0	0.000248	0	0
CLVS1	157807	broad.mit.edu	37	8	62366700	62366700	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:62366700G>A	uc003xuh.3	+	4	955	c.631_splice	c.e4-1	p.D211_splice	CLVS1_uc003xui.3_Splice_Site	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	211	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCTGCCCCAGGACAGCTTTCC	0.498000														111			36		0	0	0.006999	0	0
MAP7D1	55700	broad.mit.edu	37	1	36638151	36638151	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:36638151G>T	uc001bzz.3	+	3	763	c.547G>T	c.(547-549)Gag>Tag	p.E183*	MAP7D1_uc001caa.3_Nonsense_Mutation_p.E183*|MAP7D1_uc001cab.3_Nonsense_Mutation_p.E183*|MAP7D1_uc001cac.3_5'UTR	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	183						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCGCCGGCTGGAGGAGCAACG	0.632000														17			9		3.09899e-07	3.67827e-07	0.004482	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62757843	62757843	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:62757843C>T	uc003peg.2	-	2	523	c.276G>A	c.(274-276)caG>caA	p.Q92Q		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	92	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.L91L(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTGTTTCTTCCTGTAGCCTCT	0.373000														38			33		0	0	0.003755	0	0
ATF6	22926	broad.mit.edu	37	1	161761242	161761242	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:161761242C>T	uc001gbs.3	+	4	516	c.399C>T	c.(397-399)tcC>tcT	p.S133S	ATF6_uc001gbq.2_Silent_p.S133S	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	133	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CTCCCCTTTCCTTATATGGTG	0.393000														43			15		0	0	0.003163	0	0
CCDC101	112869	broad.mit.edu	37	16	28602160	28602160	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:28602160C>T	uc002dqf.3	+	8	854	c.669C>T	c.(667-669)gaC>gaT	p.D223D	NPIPL1_uc010vct.2_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA.	223	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CGGAGACGGACCCTGAGGCCT	0.647000														15			5		0	0	0.000602	0	0
PEAK1	79834	broad.mit.edu	37	15	77471555	77471555	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:77471555G>A	uc021sqy.1	-	4	3290	c.2714C>T	c.(2713-2715)gCt>gTt	p.A905V	PEAK1_uc002bcn.2_Missense_Mutation_p.A905V|PEAK1_uc021sqz.1_Missense_Mutation_p.A303V	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	905					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AACTGATTCAGCTTCTGTTGA	0.507000														40			25		0	0	0.003954	0	0
PPIG	9360	broad.mit.edu	37	2	170493773	170493773	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:170493773C>T	uc002uez.3	+	13	2225	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	PPIG_uc010fpx.3_Missense_Mutation_p.R654C|PPIG_uc010fpy.3_Missense_Mutation_p.R662C|PPIG_uc002ufb.3_Missense_Mutation_p.R669C|PPIG_uc002ufd.3_Missense_Mutation_p.R666C	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	669					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CTCTAAAAGTCGTGATCATAA	0.343000														39			16		0	0	0.008871	0	0
NLRP3	114548	broad.mit.edu	37	1	247582220	247582221	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:247582220_247582221CC>TT	uc001icr.3	+	2	262_263	c.124_125CC>TT	c.(124-126)ccg>TTg	p.P42L	NLRP3_uc001ics.3_Missense_Mutation_p.P42L|NLRP3_uc001icu.3_Missense_Mutation_p.P42L|NLRP3_uc001icw.3_Missense_Mutation_p.P42L|NLRP3_uc001icv.3_Missense_Mutation_p.P42L|NLRP3_uc010pyw.2_Missense_Mutation_p.P40L|NLRP3_uc001ict.1_Missense_Mutation_p.P40L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P42Q(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATCCCCCTCCCGAGGGGTCAG	0.559000														33			7		0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	42064790	42064790	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:42064790C>T	uc002yyq.1	-	2	906	c.454G>A	c.(454-456)Gag>Aag	p.E152K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	152	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTACGCCTCCACCGAGGAG	0.537000														33			23		0	0	0.002299	0	0
DCC	1630	broad.mit.edu	37	18	50918084	50918084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:50918084G>A	uc002lfe.2	+	16	3131	c.2515G>A	c.(2515-2517)Gat>Aat	p.D839N	DCC_uc010xdr.1_Splice_Site_p.D667_splice|DCC_uc010dpf.2_Splice_Site_p.D474_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	839					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)		CTCGGTCCCAGATCTCTCCAC	0.483000														111			16		0	0	0.001523	0	0
MCOLN2	255231	broad.mit.edu	37	1	85417942	85417942	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:85417942T>A	uc001dkm.3	-	5	972	c.731A>T	c.(730-732)tAt>tTt	p.Y244F	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	244						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTGAAAGACATAACAGTCTGG	0.348000														17			14		0	0	0.002450	0	0
FRG2B	441581	broad.mit.edu	37	10	135438925	135438925	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:135438925C>T	uc010qvg.2	-	3	568	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	172						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAAGCTTTTTCGAATTGACGG	0.562000														104			5		0	0	0.001984	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002446	41002446	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:41002446G>A	uc003opi.3	-	1	467	c.368C>T	c.(367-369)tCc>tTc	p.S123F	UNC5CL_uc010jxe.1_Missense_Mutation_p.S123F	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	123	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GATGAGCAAGGAGATGCCTGT	0.537000														57			27		0	0	0.004656	0	0
ZNF430	80264	broad.mit.edu	37	19	21240397	21240397	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:21240397C>T	uc002npj.3	+	4	1464	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	ZNF430_uc002npk.3_Missense_Mutation_p.P427L	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGAGAGAAACCCTACAAATGT	0.368000														7			5		0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168108439	168108439	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:168108439G>A	uc002udx.3	+	8	10626	c.10537G>A	c.(10537-10539)Gaa>Aaa	p.E3513K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E3338K|XIRP2_uc010fpq.3_Missense_Mutation_p.E3291K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3338					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						CTTCCAAGAGGAATCTGCATT	0.388000														32			18		0	0	0.002299	0	0
EFNA2	1943	broad.mit.edu	37	19	1298561	1298561	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1298561C>T	uc002lry.2	+	2	481	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S		NM_001405	NP_001396	O43921	EFNA2_HUMAN	Homo sapiens ephrin-A2 (EFNA2), mRNA.	156					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACGCCTCCCAATGCTGT	0.642000														11			6		0	0	0.001984	0	0
TACC1	6867	broad.mit.edu	37	8	38704275	38704275	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:38704275C>T	uc010lwp.3	+	11	2666	c.2287C>T	c.(2287-2289)Cat>Tat	p.H763Y	TACC1_uc003xma.3_Missense_Mutation_p.H201Y|TACC1_uc003xmb.4_Missense_Mutation_p.H689Y|TACC1_uc003xlz.3_Missense_Mutation_p.H568Y|TACC1_uc003xmc.4_Missense_Mutation_p.H567Y|TACC1_uc011lbz.2_Missense_Mutation_p.H750Y|TACC1_uc003xmf.4_Missense_Mutation_p.H353Y|TACC1_uc011lca.2_Missense_Mutation_p.H746Y|TACC1_uc011lcb.2_Missense_Mutation_p.H539Y|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.H580Y|TACC1_uc010lwq.3_Missense_Mutation_p.H579Y	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	763	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGCAGCTCTCCATGCTGGACT	0.507000														22			7		0	0	0.003080	0	0
OR51G2	81282	broad.mit.edu	37	11	4936219	4936219	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4936219C>T	uc001lzr.1	-	0	675	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A224V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		TGCGCAGGATCAGAGCATAAG	0.532000														10			13		0	0	0.001368	0	0
SCD5	79966	broad.mit.edu	37	4	83719481	83719481	+	Silent	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:83719481G>T	uc003hna.2	-	0	530	c.210C>A	c.(208-210)gcC>gcA	p.A70A	SCD5_uc003hnb.4_Silent_p.A70A|SCD5_uc003hnc.3_Silent_p.A70A	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	70					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGTGGCTTGGCTTTGGGGA	0.716000														8			9		0.000442599	0.000523734	0.006214	1	0
ZNF345	25850	broad.mit.edu	37	19	37368501	37368502	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37368501_37368502CC>TT	uc002oex.3	+	2	1150_1151	c.769_770CC>TT	c.(769-771)cca>TTa	p.P257L	ZNF345_uc021utn.1_Missense_Mutation_p.P257L|ZNF345_uc002oey.4_Missense_Mutation_p.P257L|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.P257L|ZNF345_uc021utp.1_Missense_Mutation_p.P257L|ZNF345_uc021utq.1_Missense_Mutation_p.P257L	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	257					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGGTGAGAAACCATATATATGT	0.406000														18			8		0	0	0.004672	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472823	46472823	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:46472823C>T	uc004dgu.1	-	15	1835	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	609					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGATGGGCTTCAGGTAACTTT	0.463000														45			20		0	0	0.004656	0	0
TANC2	26115	broad.mit.edu	37	17	61498857	61498857	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:61498857C>T	uc002jal.4	+	24	5537	c.5514C>T	c.(5512-5514)acC>acT	p.T1838T	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.T949T	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1838							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						GTGAGCCCACCCGATCCAGGA	0.547000														26			18		0	0	0.006122	0	0
GABRB3	2562	broad.mit.edu	37	15	26825473	26825473	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:26825473G>A	uc001zbb.3	-	6	946	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GABRB3_uc021sgg.1_Silent_p.F154F|GABRB3_uc021sgh.1_Silent_p.F140F|GABRB3_uc001zaz.3_Silent_p.F225F|GABRB3_uc001zba.3_Silent_p.F225F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	225					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTGTGGCGAAGACAACAT	0.572000														26			17		0	0	0.008871	0	0
FAM125A	93343	broad.mit.edu	37	19	17534589	17534589	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:17534589C>T	uc002ngo.1	+	5	654	c.621C>T	c.(619-621)tcC>tcT	p.S207S	FAM125A_uc002ngq.1_Silent_p.S103S	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA.	207	Interaction with TSG101, VPS37B and VPS28.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	8						ACGAGGCCTCCAGCCTCTATG	0.587000														25			14		0	0	0.002450	0	0
ZNF614	80110	broad.mit.edu	37	19	52519103	52519103	+	Missense_Mutation	SNP	G	A	A	rs147676609		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52519103G>A	uc002pyj.3	-	4	2150	c.1748C>T	c.(1747-1749)cCt>cTt	p.P583L	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.P286L	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCACTTATAAGGAAGGAGCTG	0.393000														61			39		0	0	0.002222	0	0
ANAPC5	51433	broad.mit.edu	37	12	121779811	121779811	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:121779811G>T	uc001uag.3	-	4	774	c.652C>A	c.(652-654)Caa>Aaa	p.Q218K	ANAPC5_uc001uah.3_Missense_Mutation_p.Q119K	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	218					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.Q218R(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATACCTGTTGAGAAAGAAAA	0.378000														114			29		2.20474e-14	2.63294e-14	0.003755	1	0
EIF3A	8661	broad.mit.edu	37	10	120801566	120801566	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:120801566G>A	uc001ldu.3	-	18	3612	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	EIF3A_uc010qsu.2_Missense_Mutation_p.R1122W|EIF3A_uc009xzg.1_Missense_Mutation_p.R195W	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1156	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.D1155N(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTGGGAAACCGATCATCATCA	0.493000														29			13		0	0	0.001368	0	0
PCSK5	5125	broad.mit.edu	37	9	78547371	78547371	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:78547371C>A	uc004akc.2	+	1	807	c.269C>A	c.(268-270)aCc>aAc	p.T90N	PCSK5_uc004ajy.2_Missense_Mutation_p.T90N|PCSK5_uc004ajz.3_Missense_Mutation_p.T90N|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	90					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCAGAGGGACCCACAGTTTC	0.468000														29			16		5.01169e-05	5.93764e-05	0.004990	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110454404	110454404	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110454404G>A	uc003yne.3	+	34	4477	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1458	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCACAAGTGGAAGACAAAAA	0.343000										HNSCC(38;0.096)				8			7		0	0	0.004482	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187518	58187518	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58187518C>T	uc002qpu.3	+	2	702	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	2					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTAAGAATGGCTTTAGATCTA	0.383000														28			4		0	0	0.000248	0	0
GNAI2	2771	broad.mit.edu	37	3	50293647	50293647	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:50293647T>A	uc003cyq.1	+	4	609	c.488T>A	c.(487-489)aTt>aAt	p.I163N	GNAI2_uc003cyo.1_Missense_Mutation_p.I147N|GNAI2_uc003cyp.1_Missense_Mutation_p.I147N|GNAI2_uc010hlg.1_Missense_Mutation_p.I82N|GNAI2_uc011bdn.2_Missense_Mutation_p.I126N|GNAI2_uc003cyr.1_Missense_Mutation_p.I82N	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	163					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTGGAGCGTATTGCACAGAGT	0.602000														18			8		0	0	0.003080	0	0
GPR179	440435	broad.mit.edu	37	17	36486381	36486381	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:36486381G>A	uc002hpz.3	-	10	3092	c.3071C>T	c.(3070-3072)cCa>cTa	p.P1024L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1024						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)				GGCTCGAGCTGGGGCAGGGGA	0.612000														31			16		0	0	0.004007	0	0
SDPR	8436	broad.mit.edu	37	2	192701141	192701141	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:192701141G>A	uc002utb.3	-	1	1141	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	262						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACAGATACGATCTTTGTCC	0.418000														146			57		0	0	0.003610	0	0
FGD2	221472	broad.mit.edu	37	6	36979529	36979529	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:36979529C>T	uc010jwp.1	+	3	597	c.426C>T	c.(424-426)ttC>ttT	p.F142F	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	142	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCAAGGCCTTCCCAGAGGATG	0.577000														57			21		0	0	0.008871	0	0
LOC440563	440563	broad.mit.edu	37	1	13183343	13183343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:13183343C>T	uc010obg.2	-	1	773	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	177						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AAGGTCATCTCCTTTCAGCTT	0.448000														406			61		0	0	0.003610	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269812	173269812	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:173269812C>T	uc003isv.3	+	4	1261	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	175	Catalytic subdomain A.					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						TAGCAGAAATCATTCTAGTAG	0.373000														21			19		0	0	0.003330	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:110710562C>T	uc003kpf.3	+	2	490	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000														26			17		0	0	0.006122	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42117477	42117477	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:42117477C>T	uc001zok.4	+	31	4674	c.4388C>T	c.(4387-4389)tCa>tTa	p.S1463L	MAPKBP1_uc010bci.3_Missense_Mutation_p.S1180L|MAPKBP1_uc010udb.2_Missense_Mutation_p.S1296L|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S1457L|MAPKBP1_uc010bcj.3_Missense_Mutation_p.S964L|MAPKBP1_uc010bck.3_Missense_Mutation_p.S674L|MAPKBP1_uc010bcl.3_Missense_Mutation_p.S962L|JMJD7-PLA2G4B_uc010bcm.1_5'Flank|JMJD7-PLA2G4B_uc001zom.2_5'Flank|JMJD7-PLA2G4B_uc001zon.2_5'Flank|JMJD7-PLA2G4B_uc001zoo.4_5'Flank|JMJD7-PLA2G4B_uc010bcn.3_5'Flank	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1463										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCTTCTCTTCAGTGCGACAG	0.627000														33			14		0	0	0.003163	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605742	58605742	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:58605742G>A	uc001nnd.4	-	2	309	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GLYATL2_uc009ymq.3_Nonsense_Mutation_p.Q60*	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	60						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)	ACCTGTTTCTGAGGCCGGGTA	0.463000														10			14		0	0	0.004990	0	0
ZNF283	284349	broad.mit.edu	37	19	44351245	44351245	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:44351245C>T	uc002oxr.4	+	6	760	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ZNF283_uc002oxp.4_Silent_p.F25F	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAAGCATATTCGAGGGACTAA	0.363000														11			5		0	0	0.001168	0	0
FKBP6	8468	broad.mit.edu	37	7	72754775	72754775	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:72754775G>A	uc003tya.2	+	5	856	c.724G>A	c.(724-726)Gga>Aga	p.G242R	FKBP6_uc003twz.2_Missense_Mutation_p.G212R|FKBP6_uc011kew.1_Missense_Mutation_p.G237R|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	242					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGTGCTATGGAGAGCAGGC	0.527000														26			21		0	0	0.003330	0	0
KCNK10	54207	broad.mit.edu	37	14	88729767	88729767	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:88729767C>T	uc001xwm.3	-	1	303	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	KCNK10_uc001xwn.3_Missense_Mutation_p.E61K|KCNK10_uc001xwo.3_Missense_Mutation_p.E56K	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	56					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGTGCCTTCCATCCTGGCT	0.617000														57			23		0	0	0.002780	0	0
BCKDHA	593	broad.mit.edu	37	19	41928208	41928208	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:41928208C>T	uc002oqq.3	+	5	825	c.786C>T	c.(784-786)ttC>ttT	p.F262F	BCKDHA_uc002oqm.4_Silent_p.F296F|BCKDHA_uc002oqp.2_Silent_p.F154F|BCKDHA_uc002oqr.3_Silent_p.F262F|BCKDHA_uc010xvz.2_Silent_p.F240F	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCATCATCTTCTTCTGCCGGA	0.622000														44			13		0	0	0.004007	0	0
OR13C4	138804	broad.mit.edu	37	9	107288807	107288807	+	Silent	SNP	C	T	T	rs141274906	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:107288807C>T	uc011lvn.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGCCGAGTTCGTTCGCAAGA	0.408000														16			56		0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32662369	32662369	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:32662369C>T	uc004dda.1	-	10	1455	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	DMD_uc004dcz.2_Missense_Mutation_p.S281N|DMD_uc004dcy.1_Missense_Mutation_p.S400N|DMD_uc004ddb.1_Missense_Mutation_p.S396N|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.S396N|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	404					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATCAGCTTACTTCCCAATTG	0.403000														42			14		0	0	0.004990	0	0
FLRT2	23768	broad.mit.edu	37	14	86087963	86087963	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:86087963C>T	uc021rxf.1	+	0	105	c.105C>T	c.(103-105)gcC>gcT	p.A35A	FLRT2_uc001xvr.3_Silent_p.A35A|FLRT2_uc010atd.3_Silent_p.A35A	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	35					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AACTCCTGGCCTGCCCTAGTG	0.547000														49			13		0	0	0.003163	0	0
BZRAP1	9256	broad.mit.edu	37	17	56404969	56404969	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:56404969C>T	uc002ivx.4	-	0	1184	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	BZRAP1_uc010dcs.3_Missense_Mutation_p.E105K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E105K|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank|LOC100506779_uc021uao.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	105						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTCCACTTCCTCATCCTCT	0.642000														30			14		0	0	0.004007	0	0
PRB4	5545	broad.mit.edu	37	12	11461221	11461221	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:11461221T>C	uc001qzf.1	-	2	730	c.696A>G	c.(694-696)caA>caG	p.Q232Q	PRB4_uc001qzt.3_Silent_p.Q232Q	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	295	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCTGCCCCCTTGAGGAGGTG	0.587000										HNSCC(22;0.051)				84			26		0	0	0.003954	0	0
COL5A2	1290	broad.mit.edu	37	2	189901355	189901355	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:189901355T>C	uc002uqk.3	-	51	4375	c.4100A>G	c.(4099-4101)aAc>aGc	p.N1367S	COL5A2_uc010frx.3_Missense_Mutation_p.N943S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1367	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGACCCTCTGTTCATATCAAG	0.323000														9			10		0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10428305C>T	uc010coi.3	-	33	4868	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1580R|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1580					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1579H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCAATTTTCCTATCAACCT	0.453000														47			27		0	0	0.006320	0	0
SCN1A	6323	broad.mit.edu	37	2	166866236	166866236	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166866236C>T	uc002udo.4	-	21	4222	c.3995G>A	c.(3994-3996)gGg>gAg	p.G1332E	SCN1A_uc010fpk.3_Missense_Mutation_p.G1304E|SCN1A_uc021vsb.1_Missense_Mutation_p.G1321E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1332						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TACCCTCATCCCTTCAAATCG	0.358000														20			8		0	0	0.004482	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324197	79324197	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:79324197G>T	uc010mpk.3	-	7	3117	c.2993C>A	c.(2992-2994)tCa>tAa	p.S998*	PRUNE2_uc022bih.1_Nonsense_Mutation_p.S820*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	998					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCATCTTTTGACTCAAAACC	0.453000														24			11		3.07112e-06	3.64074e-06	0.000978	1	0
FLT4	2324	broad.mit.edu	37	5	180050979	180050979	+	Missense_Mutation	SNP	C	T	T	rs139272488		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:180050979C>T	uc003mlz.4	-	10	1583	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	FLT4_uc003mma.4_Missense_Mutation_p.E502K|FLT4_uc003mmb.1_Missense_Mutation_p.E35K|FLT4_uc011dgy.2_Missense_Mutation_p.E502K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	502	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAGGCTCTCGATGGGGTTC	0.632000														48			23		0	0	0.003330	0	0
KNDC1	85442	broad.mit.edu	37	10	135000048	135000048	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:135000048C>T	uc001llz.1	+	5	1197	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	KNDC1_uc001lma.1_Missense_Mutation_p.S334L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	399					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCGAGACTTCACACCCCAGC	0.672000														17			10		0	0	0.006214	0	0
C4orf37	285555	broad.mit.edu	37	4	98633937	98633937	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:98633937C>T	uc003htt.2	-	9	1323	c.1233G>A	c.(1231-1233)agG>agA	p.R411R		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	411										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GGCAAGATTTCCTTAAAACAG	0.338000														19			38		0	0	0.008740	0	0
CFB	629	broad.mit.edu	37	6	31901498	31901498	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31901498G>A	uc011dor.2	+	2	632	c.368G>A	c.(367-369)gGg>gAg	p.G123E	CFB_uc003nyc.2_Missense_Mutation_p.G17S|CFB_uc011doo.2_Missense_Mutation_p.G17S|CFB_uc011dop.2_Missense_Mutation_p.G62E|CFB_uc003nye.4_Missense_Mutation_p.G185E|CFB_uc003nyf.3_Missense_Mutation_p.G185E|CFB_uc010jtk.3_Missense_Mutation_p.G53E|CFB_uc011doq.2_Missense_Mutation_p.G156E	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	199	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTGCTCACGGGGTCTTCGGAG	0.642000														232			68		0	0	0.003610	0	0
KRI1	65095	broad.mit.edu	37	19	10670361	10670361	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:10670361G>A	uc002moy.1	-	10	978	c.969C>T	c.(967-969)atC>atT	p.I323I	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Silent_p.I319I	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	323	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGGAGGACGCGATGCTGCGTG	0.617000														20			14		0	0	0.003163	0	0
A1CF	29974	broad.mit.edu	37	10	52566640	52566640	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:52566640C>T	uc001jjj.3	-	13	1822	c.1634_splice	c.e13-1	p.G545_splice	A1CF_uc010qho.2_Splice_Site_p.G553_splice|A1CF_uc010qhn.2_Splice_Site_p.G545_splice|A1CF_uc009xov.3_Splice_Site_p.G537_splice|A1CF_uc001jji.3_Splice_Site_p.G537_splice|A1CF_uc001jjh.3_Splice_Site_p.G545_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	545					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACAGCATATCCTGGAGGAAG	0.438000														35			8		0	0	0.003080	0	0
KRT40	125115	broad.mit.edu	37	17	39140096	39140096	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:39140096C>T	uc010cxh.1	-	2	591	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	144	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGGAGATCTTCAATGGTGTTG	0.468000														74			43		0	0	0.003214	0	0
DNAH11	8701	broad.mit.edu	37	7	21908507	21908507	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:21908507C>T	uc003svc.3	+	73	11917	c.11886C>T	c.(11884-11886)gaC>gaT	p.D3962D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3962	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACAATTGACTCTGGAAAAT	0.498000									Kartagener syndrome					44			23		0	0	0.005443	0	0
CDH8	1006	broad.mit.edu	37	16	61687834	61687834	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:61687834C>G	uc002eog.2	-	11	3033	c.2078G>C	c.(2077-2079)gGa>gCa	p.G693A		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	693					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGTAAAAATCCATTAATTCC	0.408000														12			34		0	0	0.002445	0	0
TMEM2	23670	broad.mit.edu	37	9	74337425	74337425	+	Silent	SNP	A	G	G	rs113221267		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:74337425A>G	uc011lsa.1	-	11	2725	c.2185T>C	c.(2185-2187)Tta>Cta	p.L729L	TMEM2_uc010mos.2_Silent_p.L666L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	729						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCAATAAATAAGCCAGCCTGA	0.353000														19			17		0	0	0.007413	0	0
IL7R	3575	broad.mit.edu	37	5	35857161	35857161	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35857161G>A	uc003jjs.3	+	1	171	c.82_splice	c.e1+1	p.G28_splice	IL7R_uc011coo.2_Splice_Site_p.G28_splice|IL7R_uc011cop.2_Splice_Site	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	28					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)			TGCTCAAAATGGTGAGTCATT	0.388000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							46			30		0	0	0.002836	0	0
GRM7	2917	broad.mit.edu	37	3	7348259	7348259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:7348259C>T	uc003bqm.2	+	3	1227	c.953C>T	c.(952-954)tCc>tTc	p.S318F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.S318F|GRM7_uc003bql.2_Missense_Mutation_p.S318F|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	318					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGGGGATCCAAAATAAAC	0.498000														27			26		0	0	0.003330	0	0
OR10C1	442194	broad.mit.edu	37	6	29408399	29408399	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29408399G>A	uc011dlp.2	+	0	684	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGGCAACAGCCCTCCTCAT	0.582000														121			37		0	0	0.006999	0	0
CCDC19	25790	broad.mit.edu	37	1	159858257	159858257	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159858257G>A	uc001fui.3	-	3	320	c.302C>T	c.(301-303)tCc>tTc	p.S101F	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.S16F|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.S101F	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	101						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GATGATTAGGGACTCCCCGGA	0.537000														50			12		0	0	0.001368	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774950	234774950	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:234774950C>T	uc010znf.2	-	1	1130	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		CCAAGAATTTCTGGAAGTTTG	0.433000														21			14		0	0	0.002450	0	0
BDKRB1	623	broad.mit.edu	37	14	96730652	96730652	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:96730652C>T	uc021sbj.1	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F	BDKRB1_uc001yfh.3_Silent_p.F211F	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	211					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TTCTGGGTTTCCTCCTACCAC	0.587000														24			22		0	0	0.002780	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441524	37441524	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:37441524T>C	uc022bgv.1	-	0	1025	c.1025A>G	c.(1024-1026)gAa>gGa	p.E342G	ZBTB5_uc003zzx.3_Missense_Mutation_p.E342G	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ATCGCTCACTTCATCCTGAGG	0.527000														15			20		0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11833214	11833214	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:11833214C>T	uc002gne.3	+	62	11977	c.11909C>T	c.(11908-11910)aCc>aTc	p.T3970I	DNAH9_uc010coo.3_Intron|DNAH9_uc002gnf.3_Missense_Mutation_p.T282I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3970	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGCTCAGCACCCTGGAGAAG	0.552000														10			5		0	0	0.000602	0	0
STAU1	6780	broad.mit.edu	37	20	47733721	47733721	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:47733721G>A	uc002xud.3	-	11	1985	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	STAU1_uc002xua.3_Missense_Mutation_p.S444F|STAU1_uc002xub.3_Missense_Mutation_p.S450F|STAU1_uc002xuc.3_Missense_Mutation_p.S444F|STAU1_uc002xue.3_Missense_Mutation_p.S444F|STAU1_uc002xuf.3_Missense_Mutation_p.S450F|STAU1_uc002xug.3_Missense_Mutation_p.S525F	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	525						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGTGGCTGAGAGGAGCAATT	0.473000														16			41		0	0	0.002222	0	0
XPO4	64328	broad.mit.edu	37	13	21373389	21373389	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:21373389G>A	uc001unq.4	-	15	2273	c.2237C>T	c.(2236-2238)cCt>cTt	p.P746L		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	746					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)		CCTCTGCACAGGACTTGACAA	0.438000														128			48		0	0	0.003610	0	0
CRISP1	167	broad.mit.edu	37	6	49803096	49803096	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:49803096C>T	uc003ozw.2	-	7	762	c.683G>A	c.(682-684)gGa>gAa	p.G228E	CRISP1_uc003ozx.2_3'UTR|CRISP1_uc021zaj.1_Missense_Mutation_p.G228E	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	228					fusion of sperm to egg plasma membrane	extracellular space		p.L227L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTGGTTGCATCCCAGATAATG	0.368000														51			30		0	0	0.008361	0	0
MYH1	4619	broad.mit.edu	37	17	10399431	10399431	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10399431C>A	uc002gmo.3	-	34	5099	c.5005G>T	c.(5005-5007)Gag>Tag	p.E1669*	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1669						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TTCAGGTCCTCCTGGCTCCGG	0.582000														28			15		6.72482e-11	8.02108e-11	0.003163	1	0
KCNA10	3744	broad.mit.edu	37	1	111060402	111060402	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:111060402G>A	uc001dzt.1	-	0	1396	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	336						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGATGGCCAGGGACATGTTCT	0.542000														24			32		0	0	0.002836	0	0
OR2M4	26245	broad.mit.edu	37	1	248402602	248402602	+	Silent	SNP	G	A	A	rs113116050	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248402602G>A	uc010pzh.2	+	0	372	c.372G>A	c.(370-372)gtG>gtA	p.V124V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y123C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			ACCGCTATGTGGCTATATGTC	0.473000														61			22		0	0	0.002299	0	0
OGDHL	55753	broad.mit.edu	37	10	50953880	50953880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:50953880C>T	uc009xog.3	-	9	1555	c.1521G>A	c.(1519-1521)tgG>tgA	p.W507*	OGDHL_uc001jie.3_Nonsense_Mutation_p.W480*|OGDHL_uc010qgt.2_Nonsense_Mutation_p.W423*|OGDHL_uc010qgu.2_Nonsense_Mutation_p.W271*|OGDHL_uc009xoh.2_Nonsense_Mutation_p.W271*	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	480					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAGTGTTTCTCCATTCGGCTG	0.587000														27			9		0	0	0.004482	0	0
CDH11	1009	broad.mit.edu	37	16	65005942	65005942	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:65005942G>A	uc002eoi.3	-	9	1850	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.V472V|CDH11_uc010vin.2_Silent_p.V346V	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGCCACTGGGACTTTGGCTT	0.468000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				30			12		0	0	0.001855	0	0
DPYD	1806	broad.mit.edu	37	1	98060702	98060702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:98060702C>T	uc001drv.3	-	8	1008	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	291					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.D291N(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAGATGGCATCTTTATTGGGT	0.373000														30			25		0	0	0.003954	0	0
ZNF234	10780	broad.mit.edu	37	19	44660636	44660636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:44660636C>T	uc002oym.3	+	5	774	c.467C>T	c.(466-468)tCc>tTc	p.S156F	ZNF234_uc002oyl.4_Missense_Mutation_p.S156F	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TACAAAAAATCCTTCACTGAT	0.413000														27			21		0	0	0.001523	0	0
LOC729862	729862	broad.mit.edu	37	5	28927365	28927365	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:28927365G>A	uc003jgz.1	+	0		c.389G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		CAGTTAATGTGAAAACAAGGT	0.448000														23			10		0	0	0.001368	0	0
KCNA10	3744	broad.mit.edu	37	1	111061409	111061409	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:111061409T>A	uc001dzt.1	-	0	389	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	1						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CACACATCCATTCTAGGGGAG	0.473000														3			3		0	0	0.004672	0	0
ZYX	7791	broad.mit.edu	37	7	143080384	143080385	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:143080384_143080385CC>TT	uc003wcx.3	+	4	1150_1151	c.992_993CC>TT	c.(991-993)ccc>cTT	p.P331L	ZYX_uc011ktd.2_Missense_Mutation_p.P174L|ZYX_uc003wcw.3_Missense_Mutation_p.P331L|ZYX_uc011kte.2_Missense_Mutation_p.P300L|ZYX_uc011ktf.2_Missense_Mutation_p.P174L	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	331					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAGCAGCACCCCGTGCCCCCAC	0.639000														14			8		0	0	0.004672	0	0
AZGP1	563	broad.mit.edu	37	7	99565809	99565809	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99565809C>T	uc003ush.3	-	2	674	c.582G>A	c.(580-582)ctG>ctA	p.L194L		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	194					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCTGTATTTCAGGTATTTCC	0.547000														27			17		0	0	0.006122	0	0
FAM65A	79567	broad.mit.edu	37	16	67576226	67576226	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67576226G>A	uc010vjp.2	+	12	1783	c.1597G>A	c.(1597-1599)Ggc>Agc	p.G533S	FAM65A_uc010cei.2_Missense_Mutation_p.G355S|FAM65A_uc002eth.3_Missense_Mutation_p.G513S|FAM65A_uc010cej.3_Missense_Mutation_p.G517S|FAM65A_uc002eti.2_Missense_Mutation_p.G476S|FAM65A_uc010vjq.2_Missense_Mutation_p.G527S|FAM65A_uc002etj.1_Missense_Mutation_p.G512S|FAM65A_uc002etk.3_Missense_Mutation_p.G512S	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	517	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGGTACAACAGGCTCTGTCCC	0.597000														96			65		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55541405	55541405	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:55541405C>T	uc003xsd.1	+	3	5111	c.4963C>T	c.(4963-4965)Cag>Tag	p.Q1655*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1655					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.Q1655*(2)		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)			CCGCAAATCTCAGGTTTGTCC	0.373000														67			10		0	0	0.006214	0	0
MYLK3	91807	broad.mit.edu	37	16	46744674	46744674	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:46744674C>T	uc002eei.4	-	10	2258	c.2142G>A	c.(2140-2142)ggG>ggA	p.G714G	MYLK3_uc010vge.2_Silent_p.G373G	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	714	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCTGTTTCCCCTAGAAATG	0.468000														26			55		0	0	0.003610	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078631	40078631	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:40078631C>T	uc003ayc.3	+	34	5795	c.5795C>T	c.(5794-5796)cCt>cTt	p.P1932L	CACNA1I_uc003ayd.3_Missense_Mutation_p.P1897L|CACNA1I_uc003aye.3_Missense_Mutation_p.P1847L|CACNA1I_uc003ayf.3_Missense_Mutation_p.P1812L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1932					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCATTCAACCCTGTCCGGTCC	0.597000														24			11		0	0	0.001368	0	0
SDK2	54549	broad.mit.edu	37	17	71433941	71433942	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:71433941_71433942CC>TT	uc010dfm.3	-	7	936_937	c.936_937GG>AA	c.(934-939)aaggag>aaAAag	p.E313K	SDK2_uc010dfn.2_5'UTR	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	313	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTTCTGGCTCCTTGACAAACT	0.589000														29			25		0	0	0.004672	0	0
OR1M1	125963	broad.mit.edu	37	19	9204705	9204705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9204705C>T	uc010xkj.2	+	0	785	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TATCTGTGTCCCTCCTCGGTC	0.557000														56			38		0	0	0.002222	0	0
MXRA5	25878	broad.mit.edu	37	X	3241038	3241038	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:3241038C>T	uc004crg.4	-	4	2845	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	896						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)				AAGTTATCTCCTCAGTCTTCT	0.468000														31			29		0	0	0.008361	0	0
AGBL5	60509	broad.mit.edu	37	2	27276421	27276421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:27276421C>T	uc002rie.3	+	2	584	c.367C>T	c.(367-369)Cga>Tga	p.R123*	AGBL5_uc002rid.3_Nonsense_Mutation_p.R123*|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	123					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAACGCATTCGAGACCGGCC	0.498000														28			23		0	0	0.002299	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628733	8628733	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8628733C>T	uc001qum.1	+	4	499	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	128	C-type lectin.				defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding	p.Q128K(2)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					tttcattgtccagcagctgaa	0.363000														21			6		0	0	0.001168	0	0
PIAS3	10401	broad.mit.edu	37	1	145578693	145578693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:145578693C>T	uc001eoc.1	+	2	590	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	PIAS3_uc010oyy.1_Nonsense_Mutation_p.Q158*|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	167	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTCACACCCCAGCAAGTGCA	0.522000														36			58		0	0	0.003610	0	0
ZNF25	219749	broad.mit.edu	37	10	38245986	38245986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:38245986C>T	uc001ize.1	-	3	305	c.200G>A	c.(199-201)tGg>tAg	p.W67*	ZNF25_uc001izf.1_Nonsense_Mutation_p.W31*	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTCTAATATCCATGGCTCTTT	0.398000														36			10		0	0	0.006214	0	0
ZNF750	79755	broad.mit.edu	37	17	80788605	80788605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:80788605C>T	uc002kga.3	-	2	1896	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	529						intracellular	zinc ion binding	p.E529K(4)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TACGTGGGTTCGTGGGTGGCT	0.617000														40			21		0	0	0.001882	0	0
MBOAT7	79143	broad.mit.edu	37	19	54684597	54684597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54684597C>T	uc002qdq.3	-	6	1013	c.747G>A	c.(745-747)tgG>tgA	p.W249*	MBOAT7_uc010erg.3_Intron|MBOAT7_uc010yem.2_Nonsense_Mutation_p.W231*|MBOAT7_uc002qdr.3_Nonsense_Mutation_p.W249*|MBOAT7_uc002qds.3_Nonsense_Mutation_p.W176*|MBOAT7_uc010yen.2_Nonsense_Mutation_p.W176*|MBOAT7_uc002qdt.4_Nonsense_Mutation_p.W249*	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	249					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGCGGCAATCCAGGCCACGT	0.716000											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		4			5		0	0	0.000602	0	0
ZNF630	57232	broad.mit.edu	37	X	47918214	47918214	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47918214C>T	uc004div.4	-	4	1869	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.G525G|ZNF630_uc022bvs.1_Silent_p.G539G	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGGGTTTCTCCCCTGTGTGAA	0.448000														8			3		0	0	0.004672	0	0
MLLT10	8028	broad.mit.edu	37	10	21903788	21903788	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:21903788G>A	uc021pny.1	+	5	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	MLLT10_uc001iqs.3_Missense_Mutation_p.E180K|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.E180K|MLLT10_uc001ira.3_5'Flank	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	180	Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCTTTGTGAAGAAGAAGGTAA	0.323000			T	"""MLL, PICALM, CDK6"""	AL									24			9		0	0	0.000978	0	0
BCAN	63827	broad.mit.edu	37	1	156617414	156617415	+	Missense_Mutation	DNP	CC	GA	GA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156617414_156617415CC>GA	uc001fpp.3	+	3	917_918	c.581_582CC>GA	c.(580-582)gcc>gGA	p.A194G	BCAN_uc001fpo.3_Missense_Mutation_p.A194G	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	194	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTCTATGCCGCCTACCTTG	0.629000														89			43		0	0	0.004672	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202318017	202318017	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:202318017A>G	uc001gya.2	+	0	188	c.38A>G	c.(37-39)gAg>gGg	p.E13G	PPP1R12B_uc001gxy.3_Missense_Mutation_p.E13G|PPP1R12B_uc009xae.2_Missense_Mutation_p.E13G|PPP1R12B_uc009xad.2_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	13					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGCGGGCAGAGTCGGCGCGA	0.672000														49			15		0	0	0.004990	0	0
OR6C6	283365	broad.mit.edu	37	12	55688939	55688939	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55688939G>A	uc010sph.2	-	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGAAACAGGAAAATCACAA	0.408000														21			6		0	0	0.001168	0	0
TCRA	0	broad.mit.edu	37	14	22471482	22471482	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22471482C>T	uc001wct.4	+	0	138	c.33C>T	c.(31-33)atC>atT	p.I11I	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		GACTTGTGATCTTGTTGATAT	0.403000														19			19		0	0	0.002299	0	0
C8orf34	116328	broad.mit.edu	37	8	69434033	69434033	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:69434033G>A	uc010lyz.3	+	6	1057	c.766_splice	c.e6-1	p.E256_splice	C8orf34_uc010lyy.2_Splice_Site_p.E256_splice|C8orf34_uc003xyb.3_Splice_Site_p.E145_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	170					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTTCTCTTCAGGAAACAGTGA	0.388000														15			8		0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21230676	21230676	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:21230676C>T	uc002red.3	-	25	9192	c.9064G>A	c.(9064-9066)Gat>Aat	p.D3022N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3022					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATGAGCATCATGCCTCCCA	0.438000														235			149		0	0	0.003610	0	0
IFT140	9742	broad.mit.edu	37	16	1642239	1642239	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1642239G>A	uc002cmb.3	-	5	934	c.572C>T	c.(571-573)tCt>tTt	p.S191F		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	191										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAAACTTCCAGAACTGCTCTT	0.512000														41			29		0	0	0.008361	0	0
RGS7	6000	broad.mit.edu	37	1	240969462	240969462	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:240969462C>T	uc001hyt.2	-	7	797	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	RGS7_uc010pyh.2_Missense_Mutation_p.R390Q|RGS7_uc010pyj.1_Missense_Mutation_p.R332Q|RGS7_uc001hyu.2_Missense_Mutation_p.R416Q|RGS7_uc009xgn.1_Missense_Mutation_p.R363Q|RGS7_uc001hyv.2_Missense_Mutation_p.R416Q|RGS7_uc001hyw.2_Missense_Mutation_p.R416Q	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	416					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)			AAATGTGTATCGTCCAGGTTC	0.453000														60			23		0	0	0.004656	0	0
STAT4	6775	broad.mit.edu	37	2	191905875	191905875	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:191905875C>T	uc002usm.2	-	15	1567	c.1252_splice	c.e15-1	p.G418_splice	STAT4_uc002usn.2_Splice_Site_p.G418_splice|STAT4_uc010zgk.1_Splice_Site_p.G263_splice|STAT4_uc002uso.2_Splice_Site_p.G418_splice	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	418					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.?(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTGACAGCCCTAAGGAAGAG	0.328000														39			13		0	0	0.001368	0	0
WARS	7453	broad.mit.edu	37	14	100820025	100820025	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:100820025C>T	uc001yhh.1	-	6	1106	c.725_splice	c.e6+1	p.G242_splice	WARS_uc001yhi.1_Splice_Site_p.G201_splice|WARS_uc001yhg.2_Splice_Site_p.G242_splice|WARS_uc001yhl.1_Splice_Site_p.G242_splice|WARS_uc001yhk.1_Splice_Site_p.G201_splice	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	242					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCTCCTTACCCCATGTAGTCC	0.458000														13			13		0	0	0.002450	0	0
ZNF652	22834	broad.mit.edu	37	17	47394451	47394451	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:47394451G>A	uc002iov.4	-	1	1101	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	ZNF652_uc002iow.3_Missense_Mutation_p.R213C|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTCTTCCTACGACCTCTTGTA	0.512000														22			19		0	0	0.001882	0	0
ADAP2	55803	broad.mit.edu	37	17	29280326	29280326	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:29280326G>A	uc010csk.3	+	7	1059	c.780G>A	c.(778-780)agG>agA	p.R260R	ADAP2_uc002hfy.3_Silent_p.R254R|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.R254R	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	254	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCCTCACCAGGAACTACCTCA	0.512000														17			6		0	0	0.003080	0	0
UNC13C	440279	broad.mit.edu	37	15	54305795	54305795	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:54305795C>T	uc021smr.1	+	0	695	c.695C>T	c.(694-696)tCc>tTc	p.S232F	UNC13C_uc021sms.1_Missense_Mutation_p.S232F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	232					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGTTCAGTTCCTCTGGCTGC	0.433000														34			22		0	0	0.001882	0	0
FAM214A	56204	broad.mit.edu	37	15	52901656	52901656	+	Silent	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:52901656A>T	uc010ugf.2	-	4	1610	c.1476T>A	c.(1474-1476)gtT>gtA	p.V492V	FAM214A_uc002acg.4_Silent_p.V485V|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.V397V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	485																	TCCTTGCAATAACATCTTGCC	0.433000														73			37		0	0	0.004289	0	0
SYNE2	23224	broad.mit.edu	37	14	64574244	64574244	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:64574244C>T	uc001xgl.3	+	64	12758	c.12528C>T	c.(12526-12528)tcC>tcT	p.S4176S	SYNE2_uc001xgm.3_Silent_p.S4176S|SYNE2_uc021ruh.1_Silent_p.S4191S|SYNE2_uc010apy.3_Silent_p.S561S|SYNE2_uc010apz.1_Silent_p.S68S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4176					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGATAATTCCATGGCACAAA	0.458000														96			34		0	0	0.003755	0	0
GNL2	29889	broad.mit.edu	37	1	38034506	38034506	+	Missense_Mutation	SNP	G	A	A	rs144297344		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:38034506G>A	uc001cbk.3	-	12	1977	c.1814C>T	c.(1813-1815)gCc>gTc	p.A605V		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	605					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTGATATTTGGCAATCTTCTC	0.408000														104			56		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9064313	9064313	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9064313G>A	uc002mkp.3	-	2	23337	c.23133C>T	c.(23131-23133)ccC>ccT	p.P7711P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7711P(3)|p.P3344P(1)|p.I7710I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGAGAGGGGGGGATATGTG	0.537000														36			24		0	0	0.003330	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:28914104G>A	uc002kwp.3	+	7	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	315	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGAAATGAAGGAAATTGGTTT	0.299000														58			9		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774190	140774190	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140774190C>T	uc003lkd.2	+	0	2708	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.L604L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCTGGCTGTCCTACCG	0.697000														19			21		0	0	0.003954	0	0
DMBT1	1755	broad.mit.edu	37	10	124390770	124390770	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:124390770C>T	uc001lgk.1	+	45	6038	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMBT1_uc001lgl.1_Missense_Mutation_p.R1968C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1350C|DMBT1_uc021qaf.1_Missense_Mutation_p.R1978C|DMBT1_uc021qag.1_Missense_Mutation_p.R1968C|DMBT1_uc021qah.1_Missense_Mutation_p.R1350C|DMBT1_uc009xzz.1_Missense_Mutation_p.R1978C|DMBT1_uc010qtx.1_Missense_Mutation_p.R698C|DMBT1_uc009yab.1_Missense_Mutation_p.R681C|DMBT1_uc009yac.1_Missense_Mutation_p.R272C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1978	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGTAATCATCGTGAAGATGC	0.542000														41			27		0	0	0.001786	0	0
RNFT2	84900	broad.mit.edu	37	12	117178899	117178899	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:117178899G>A	uc009zwn.3	+	3	316	c.83_splice	c.e3+1	p.R28_splice	RNFT2_uc001twb.4_Splice_Site_p.R28_splice|RNFT2_uc001twa.4_Splice_Site	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	28						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCACCTGAAAGGTAGGCATCC	0.522000														4			4		0	0	0.000248	0	0
SVEP1	79987	broad.mit.edu	37	9	113173659	113173659	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:113173659T>A	uc010mtz.3	-	36	6669	c.6332A>T	c.(6331-6333)aAa>aTa	p.K2111I	SVEP1_uc010mty.3_Missense_Mutation_p.K37I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2111	Sushi 12.				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						TTCCATGCATTTAAAGCTCAC	0.458000														5			14		0	0	0.002450	0	0
SCN2A	6326	broad.mit.edu	37	2	166172127	166172127	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166172127G>A	uc002udc.3	+	10	1820	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	SCN2A_uc002udd.3_Silent_p.Q510Q|SCN2A_uc002ude.3_Silent_p.Q510Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	510					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	aaaagaaacagaaagaacagt	0.383000														26			9		0	0	0.004482	0	0
FAT1	2195	broad.mit.edu	37	4	187530432	187530432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:187530432G>A	uc003izf.3	-	15	10299	c.10111C>T	c.(10111-10113)Cac>Tac	p.H3371Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3371	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTGAGTAGTGGATGTGGCTG	0.483000										HNSCC(5;0.00058)				12			5		0	0	0.000602	0	0
C1orf173	127254	broad.mit.edu	37	1	75038616	75038616	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:75038616C>T	uc001dgg.3	-	13	2997	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	926	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCCGATGTCGCTGCCTCTC	0.552000														74			36		0	0	0.004878	0	0
NF1	4763	broad.mit.edu	37	17	29554566	29554567	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:29554566_29554567GG>AA	uc002hgg.3	+	19	2734_2735	c.2351_2352GG>AA	c.(2350-2352)tgg>tAA	p.W784*	NF1_uc002hgh.3_Nonsense_Mutation_p.W784*|NF1_uc010csn.2_Nonsense_Mutation_p.W644*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	784			W -> C (in NF1).|W -> R (in NF1).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.H781_Q786del(2)|p.T780_Q786>K(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGCAAAATGGGAACAAGCAA	0.381000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				25			6		0	0	0.004672	0	0
ATP1A3	478	broad.mit.edu	37	19	42492526	42492526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42492526C>T	uc002osh.3	-	2	251	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E44K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E3K|ATP1A3_uc002osg.3_Missense_Mutation_p.E33K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E46K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	33					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTTGTGCTCTGTCTGAGGA	0.602000														96			58		0	0	0.003610	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882643	15882643	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:15882643G>A	uc002yju.1	-	4	631	c.549C>T	c.(547-549)tcC>tcT	p.S183S	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.S251S	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	183	SH3.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGATTTTGAGGGAGTCAGTGT	0.478000														39			25		0	0	0.005443	0	0
FANCA	2175	broad.mit.edu	37	16	89805688	89805688	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:89805688G>A	uc002fou.1	-	40	4062	c.4020C>T	c.(4018-4020)tcC>tcT	p.S1340S	ZNF276_uc010ciq.3_3'UTR|ZNF276_uc002foq.4_3'UTR|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_3'UTR|ZNF276_uc010cis.3_3'UTR|ZNF276_uc002fos.4_3'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_3'UTR|FANCA_uc010vpn.1_Silent_p.S1340S	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1340					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CATGGAAGTAGGAGAGAAGAC	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					19			13		0	0	0.002450	0	0
DENND1B	163486	broad.mit.edu	37	1	197564452	197564452	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:197564452C>T	uc021pgu.1	-	13	1271	c.933G>A	c.(931-933)ttG>ttA	p.L311L	DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Silent_p.L311L|DENND1B_uc001gue.3_Silent_p.L281L	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	311						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTTTATTTTTCAAGGCCGAGA	0.473000														106			41		0	0	0.007835	0	0
NR1H4	9971	broad.mit.edu	37	12	100897197	100897197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:100897197C>T	uc001tht.2	+	0	60	c.32C>T	c.(31-33)cCa>cTa	p.P11L	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.P11L	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	11					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.H10N(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TTAGAAAATCCAATTCAAATT	0.448000														5			10		0	0	0.001368	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446428	169446429	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446428_169446429GG>AA	uc001gge.4	-	1	975_976	c.771_772CC>TT	c.(769-774)atccct>atTTct	p.P258S	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	258					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ATATTTAGAGGGATTTTTGACT	0.485000														98			16		0	0	0.004672	0	0
MYF6	4618	broad.mit.edu	37	12	81102711	81102711	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:81102711C>T	uc001szf.2	+	2	792	c.701C>T	c.(700-702)cCc>cTc	p.P234L		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	234					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CGCAAACTCCCCTGCGTGGAG	0.542000														11			14		0	0	0.001855	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20216295	20216295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:20216295C>T	uc001umh.3	+	1	355	c.254C>T	c.(253-255)tCg>tTg	p.S85L	MPHOSPH8_uc001umg.3_Missense_Mutation_p.S85L	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	85	Chromo.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGCTATACATCGGATGATGAT	0.388000														12			6		0	0	0.001984	0	0
KCNB2	9312	broad.mit.edu	37	8	73848429	73848429	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:73848429C>T	uc003xzb.3	+	2	1427	c.839C>T	c.(838-840)aCc>aTc	p.T280I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	280					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TACTATGTCACCATTTTTCTG	0.473000														38			6		0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	186023034	186023034	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:186023034G>C	uc001grq.1	+	43	7007	c.6778G>C	c.(6778-6780)Gaa>Caa	p.E2260Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2260	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCAATTGCTGAAAAGTCTGA	0.428000														36			14		0	0	0.002450	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840274	153840274	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:153840274T>C	uc021xgc.1	+	1	777	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Silent_p.L165L|ARHGEF26_uc011boh.1_Silent_p.L165L	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	165	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCTTACTGGGTTGACTGCCAG	0.701000														10			17		0	0	0.007413	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														22			3		0	0	0.004672	0	0
SMURF2	64750	broad.mit.edu	37	17	62557655	62557655	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:62557655G>A	uc002jep.1	-	11	1667	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SMURF2_uc002jeq.1_Missense_Mutation_p.R186C|SMURF2_uc002jer.1_Missense_Mutation_p.R186C	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	427	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTTCTCCACGAAATTTTATC	0.363000														24			11		0	0	0.003163	0	0
RIOK2	55781	broad.mit.edu	37	5	96503501	96503501	+	Missense_Mutation	SNP	C	T	T	rs112201709		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:96503501C>T	uc003kmz.3	-	7	1177	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	RIOK2_uc003kna.3_Missense_Mutation_p.R356Q	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	356	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.E355*(1)|p.R356W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGACAGTTCCGTTCACTTTC	0.408000														59			27		0	0	0.007291	0	0
C12orf63	374467	broad.mit.edu	37	12	97136343	97136343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:97136343C>T	uc021rcc.1	+	18	2551	c.2473C>T	c.(2473-2475)Cat>Tat	p.H825Y				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	825										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						TGCACAGATTCATGGCATTGG	0.348000														4			4		0	0	0.000248	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020845	46020845	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:46020845C>T	uc002zfn.4	+	1	334	c.309C>T	c.(307-309)tcC>tcT	p.S103S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	108	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCTCCTCCCCCTGCCAGC	0.637000														26			8		0	0	0.000978	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391708	22391708	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:22391708G>A	uc001mqk.3	+	7	1428	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	339					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						ATATTTTGAGGAAGTCTTTGG	0.303000														8			11		0	0	0.001855	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955941	35955941	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35955941G>A	uc003jjv.2	-	5	1294	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V367V|UGT3A1_uc011cor.2_Silent_p.V333V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	367						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCATGAGTGACAAAAAGAC	0.483000														38			27		0	0	0.008361	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026853	93026853	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:93026853G>A	uc022axs.1	-	3	786	c.599C>T	c.(598-600)tCa>tTa	p.S200L	RUNX1T1_uc003yfc.2_Missense_Mutation_p.S114L|RUNX1T1_uc010mam.3_Missense_Mutation_p.S114L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.S104L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.S141L|RUNX1T1_uc022axo.1_Missense_Mutation_p.S141L|RUNX1T1_uc010mao.3_Missense_Mutation_p.S114L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.S152L|RUNX1T1_uc022axp.1_Missense_Mutation_p.S141L|RUNX1T1_uc022axq.1_Missense_Mutation_p.S141L|RUNX1T1_uc022axr.1_Missense_Mutation_p.S141L|RUNX1T1_uc022axt.1_Missense_Mutation_p.S141L|RUNX1T1_uc022axu.1_Missense_Mutation_p.S121L|RUNX1T1_uc022axv.1_Missense_Mutation_p.S141L|RUNX1T1_uc003yfb.2_Missense_Mutation_p.S104L|RUNX1T1_uc003yff.1_Missense_Mutation_p.S104L|RUNX1T1_uc003yfg.2_Missense_Mutation_p.S104L	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	141	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TATCTCGGGTGAAATGTCATT	0.512000														39			10		0	0	0.000978	0	0
MYBPC1	4604	broad.mit.edu	37	12	102053564	102053564	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:102053564A>T	uc001tii.3	+	16	1947	c.1807A>T	c.(1807-1809)Aac>Tac	p.N603Y	MYBPC1_uc001tig.3_Missense_Mutation_p.N628Y|MYBPC1_uc010svr.2_Missense_Mutation_p.N603Y|MYBPC1_uc010svs.2_Missense_Mutation_p.N603Y|MYBPC1_uc001tij.3_Missense_Mutation_p.N603Y|MYBPC1_uc010svt.2_Missense_Mutation_p.N591Y|MYBPC1_uc010svu.2_Missense_Mutation_p.N584Y|MYBPC1_uc001tik.3_Missense_Mutation_p.N577Y|MYBPC1_uc001tih.3_Missense_Mutation_p.N628Y|MYBPC1_uc010svq.2_Missense_Mutation_p.N590Y	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	603	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAATCTGAAAAACGAAGCTGG	0.443000														10			14		0	0	0.004007	0	0
CDH26	60437	broad.mit.edu	37	20	58560113	58560113	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:58560113T>C	uc002ybe.3	+	6	1077	c.766T>C	c.(766-768)Tca>Cca	p.S256P	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	256	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACCGTCACTGTCATCCACGAC	0.542000														17			29		0	0	0.008361	0	0
MSH5	4439	broad.mit.edu	37	6	31726896	31726896	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31726896C>T	uc003nwu.2	+	15	1477	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	MSH5_uc003nwx.2_Missense_Mutation_p.P467L|MSH5_uc003nwv.2_Missense_Mutation_p.P450L|MSH5_uc003nww.2_Missense_Mutation_p.P450L|MSH5_uc011dof.1_Missense_Mutation_p.P149L|MSH5_uc003nwy.1_Missense_Mutation_p.P124L|SAPCD1_uc003nwz.4_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	450					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CTTTCTATTCCCCGCCTGCCT	0.498000								Direct reversal of damage;Mismatch excision repair (MMR)						425			150		0	0	0.003610	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:50944251C>T	uc002psf.2	+	7	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	229					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542000														10			6		0	0	0.003080	0	0
PSAP	5660	broad.mit.edu	37	10	73590882	73590882	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:73590882C>T	uc001jsm.3	-	4	479	c.375_splice	c.e4+1	p.M125_splice		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	125	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCATCACTTACCATTTCTCCT	0.488000														26			24		0	0	0.008361	0	0
MYO10	4651	broad.mit.edu	37	5	16668463	16668463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:16668463G>A	uc003jft.4	-	39	6466	c.5998C>T	c.(5998-6000)Ctc>Ttc	p.L2000F	MYO10_uc011cnb.2_Missense_Mutation_p.L629F|MYO10_uc011cnc.2_Missense_Mutation_p.L879F|MYO10_uc011cnd.2_Missense_Mutation_p.L1357F|MYO10_uc011cne.2_Missense_Mutation_p.L1357F|MYO10_uc010itx.3_Missense_Mutation_p.L1622F	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	2000	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAAAAGAGAGGATGTGTTCA	0.537000														66			34		0	0	0.002445	0	0
XRN2	22803	broad.mit.edu	37	20	21335474	21335474	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:21335474C>T	uc002wsf.1	+	20	2079	c.1984C>T	c.(1984-1986)Cta>Tta	p.L662L	XRN2_uc002wsg.1_Silent_p.L586L|XRN2_uc010zsk.1_Silent_p.L608L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	662					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACGAGCTGCCCTAGAAGAGGT	0.413000														33			7		0	0	0.003080	0	0
RC3H1	149041	broad.mit.edu	37	1	173952757	173952757	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:173952757G>C	uc010pmt.2	-	2	478	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G	RC3H1_uc001gju.4_Missense_Mutation_p.R131G|RC3H1_uc010pms.2_Missense_Mutation_p.R131G|RC3H1_uc001gjv.3_Missense_Mutation_p.R131G	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	131					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGCATTGGGCGACTCAGAACA	0.458000														75			33		0	0	0.005524	0	0
ATP10B	23120	broad.mit.edu	37	5	160039886	160039886	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:160039886C>T	uc003lym.1	-	17	3547	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP10B_uc010jit.1_Silent_p.T217T|ATP10B_uc003lyn.3_Silent_p.T458T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	900					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTGGCAATCGTATCTGGAA	0.507000														14			11		0	0	0.000978	0	0
SPTB	6710	broad.mit.edu	37	14	65253161	65253161	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:65253161C>T	uc001xht.3	-	14	3573	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	SPTB_uc001xhr.3_Silent_p.Q1174Q|SPTB_uc001xhs.3_Silent_p.Q1174Q|SPTB_uc001xhu.3_Silent_p.Q1174Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1174					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGCATCTTTCTGGAACTCCT	0.617000														33			18		0	0	0.004990	0	0
CADM2	253559	broad.mit.edu	37	3	85984998	85984998	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:85984998G>A	uc003dql.3	+	5	761	c.761G>A	c.(760-762)gGa>gAa	p.G254E	CADM2_uc003dqj.3_Missense_Mutation_p.G252E|CADM2_uc003dqk.3_Missense_Mutation_p.G261E|CADM2_uc003dqm.2_Missense_Mutation_p.G144E|CADM2_uc021xay.1_Missense_Mutation_p.G144E|CADM2_uc021xaz.1_Missense_Mutation_p.G144E|CADM2_uc021xba.1_Missense_Mutation_p.G144E	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	252	Ig-like C2-type 2.				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)		GAATCCAAAGGAAAACCACTG	0.318000														71			18		0	0	0.007413	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														9			3		0	0	0.000248	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559947	45559947	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:45559947G>A	uc001zva.2	+	11	1217	c.1152G>A	c.(1150-1152)gtG>gtA	p.V384V		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	384					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		ATCCGGAAGTGGAGGAGTCCA	0.547000														88			33		0	0	0.005524	0	0
ITGB8	3696	broad.mit.edu	37	7	20431110	20431110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:20431110C>T	uc003suu.3	+	6	1750	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ITGB8_uc011jyh.2_Missense_Mutation_p.H214Y|ITGB8_uc003sut.3_Missense_Mutation_p.H349Y	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	349	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAAACAATTTCATTGGTATAA	0.289000														18			10		0	0	0.008291	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290088	55290088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:55290088C>T	uc010erz.1	+	4	727	c.689C>T	c.(688-690)tCa>tTa	p.S230L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S230L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	230					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTTGGCCTTCACCCACTGAA	0.502000														8			52		0	0	0.003610	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535902	166535902	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166535902C>T	uc002udf.3	+	6	1773	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	CSRNP3_uc002udg.3_Missense_Mutation_p.S466L	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	466					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GGTACCCTTTCGCTGGTGCCT	0.488000														21			10		0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:82584459C>T	uc003uhx.2	-	4	6099	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1937Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1868					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTCATCTCGTTCATTTGC	0.363000														22			12		0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3081377	3081377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:3081377C>T	uc022aqr.1	-	27	4748	c.4358G>A	c.(4357-4359)gGg>gAg	p.G1453E	CSMD1_uc011kwj.2_Missense_Mutation_p.G846E|CSMD1_uc003wqe.3_Missense_Mutation_p.G610E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1454	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTCAGATTCCCTCCACAAGC	0.502000														8			11		0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82580330	82580330	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:82580330G>A	uc003uhx.2	-	5	9863	c.9574C>T	c.(9574-9576)Cct>Tct	p.P3192S	PCLO_uc003uhv.2_Missense_Mutation_p.P3192S|PCLO_uc010lec.3_Missense_Mutation_p.P157S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3123	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCACTTCAGGAAACACTTCG	0.443000														12			7		0	0	0.003080	0	0
MIIP	60672	broad.mit.edu	37	1	12082327	12082327	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:12082327C>T	uc001ato.2	+	2	683	c.290C>T	c.(289-291)cCt>cTt	p.P97L		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	97										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCTCTCCCACCTGCCAAATGC	0.697000														31			19		0	0	0.007413	0	0
ITPR3	3710	broad.mit.edu	37	6	33656078	33656078	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:33656078C>T	uc021ywr.1	+	47	6662	c.6438C>T	c.(6436-6438)ttC>ttT	p.F2146F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2146					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCTGCCAGTTCCTGACGGAGG	0.612000														56			20		0	0	0.002299	0	0
SPTA1	6708	broad.mit.edu	37	1	158655074	158655074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:158655074C>T	uc001fst.1	-	1	287	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	30					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCAACACTTCCTGACGCCTC	0.473000														109			35		0	0	0.002222	0	0
KIF4B	285643	broad.mit.edu	37	5	154395651	154395651	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:154395651G>A	uc010jih.1	+	0	2392	c.2232G>A	c.(2230-2232)agG>agA	p.R744R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	744	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)			CTCGAGTGAGGAATTGGCTTG	0.478000														14			13		0	0	0.001855	0	0
COL5A2	1290	broad.mit.edu	37	2	189932833	189932833	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:189932833G>A	uc002uqk.3	-	20	1584	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	437					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GAGGTACCTGGAGAGCCCTAT	0.537000														35			32		0	0	0.002096	0	0
C6	729	broad.mit.edu	37	5	41142959	41142959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:41142959C>T	uc003jmk.2	-	17	2983	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	C6_uc003jml.1_Missense_Mutation_p.E925K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	925	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCAGTATTTCCATCTTCCTG	0.418000														37			19		0	0	0.002780	0	0
C14orf45	80127	broad.mit.edu	37	14	74489674	74489674	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:74489674C>T	uc010tup.2	+	1	235	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F		NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	38										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		CAATGCCTCCCTTTGGGAGGC	0.413000														14			5		0	0	0.000602	0	0
TCRA	0	broad.mit.edu	37	14	22362941	22362941	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22362941C>T	uc021rpj.1	+	1	243	c.72C>T	c.(70-72)acC>acT	p.T24T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		AGTCGGTGACCCAGCTTGGCA	0.488000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			18		0	0	0.008871	0	0
CTPS1	1503	broad.mit.edu	37	1	41450632	41450632	+	Silent	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:41450632G>C	uc001cgk.4	+	2	814	c.306G>C	c.(304-306)cgG>cgC	p.R102R	CTPS1_uc010ojo.2_Intron|CTPS1_uc010ojp.1_Silent_p.R109R|CTPS1_uc001cgl.4_Silent_p.R102R	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	102					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	ACAAGGAACGGAAAGGAGATT	0.413000														32			24		0	0	0.003954	0	0
JAM2	58494	broad.mit.edu	37	21	27071113	27071113	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:27071113C>T	uc002ylp.1	+	4	1064	c.519C>T	c.(517-519)atC>atT	p.I173I	JAM2_uc011ace.1_Silent_p.I173I|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Silent_p.I137I	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	173	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.I173I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGATGGCATCCGTTTGCTAG	0.438000														29			7		0	0	0.004482	0	0
ATP2B2	491	broad.mit.edu	37	3	10442734	10442734	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:10442734G>A	uc003bvt.3	-	4	1123	c.684C>T	c.(682-684)ttC>ttT	p.F228F	ATP2B2_uc003bvv.3_Silent_p.F228F|ATP2B2_uc003bvw.3_Silent_p.F228F|ATP2B2_uc010hdp.2_Silent_p.F228F|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	228					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCTGGATGAAGAGGCCGT	0.577000														6			17		0	0	0.004990	0	0
TEX101	83639	broad.mit.edu	37	19	43922105	43922105	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43922105C>T	uc002owk.3	+	7	1082	c.521C>T	c.(520-522)cCc>cTc	p.P174L	TEX101_uc010xwo.2_Missense_Mutation_p.P156L	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	156						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCTTCTCTTCCCTGTCCCAAT	0.463000														61			38		0	0	0.004878	0	0
OR10J3	441911	broad.mit.edu	37	1	159284281	159284281	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159284281G>A	uc010piu.2	-	0	169	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATGGGGGTGTGAAGATGATGG	0.458000														89			28		0	0	0.001786	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058251	41058251	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:41058251C>T	uc003jmj.4	-	6	1160	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.E224K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	224							binding	p.R223L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CGGAAGTCTTCCCGATGCAGC	0.512000														14			8		0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408780	105408780	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:105408780G>A	uc010axc.1	-	6	13128	c.13008C>T	c.(13006-13008)tcC>tcT	p.S4336S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S4236S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4336						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.622000														110			26		0	0	0.004656	0	0
SHOX	6473	broad.mit.edu	37	X	591781	591781	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:591781G>A	uc004cph.1	+	1	840	c.149G>A	c.(148-150)gGg>gAg	p.G50E	SHOX_uc004cpi.3_Missense_Mutation_p.G50E	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	50					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGGAGCTGGGGACGTCGGAT	0.607000														60			40		0	0	0.006999	0	0
ZNF528	84436	broad.mit.edu	37	19	52919895	52919895	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52919895G>A	uc002pzh.3	+	6	2216	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	ZNF528_uc002pzi.3_Missense_Mutation_p.R364K	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATCACCATAGAATTCACATT	0.423000														27			13		0	0	0.001855	0	0
NUDT13	25961	broad.mit.edu	37	10	74890626	74890626	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:74890626G>A	uc001jtj.3	+	8	1149	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	NUDT13_uc010qkc.2_Missense_Mutation_p.V216M|NUDT13_uc010qkd.2_Missense_Mutation_p.V145M|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_3'UTR|NUDT13_uc010qke.2_Missense_Mutation_p.V145M|NUDT13_uc001jtl.3_Missense_Mutation_p.V253M	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	342							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAAGGAGTGGGTGGAAAAACA	0.502000														17			13		0	0	0.004007	0	0
MYLK3	91807	broad.mit.edu	37	16	46766493	46766493	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:46766493C>T	uc002eei.4	-	3	1205	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	MYLK3_uc010vge.2_Silent_p.E22E|MYLK3_uc002eej.1_Silent_p.E22E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	363					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTGCTGGAGCCTCTGTGGTGA	0.647000														3			13		0	0	0.001855	0	0
NTN5	126147	broad.mit.edu	37	19	49166770	49166770	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:49166770G>A	uc002pkb.3	-	5	1151	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_3'UTR	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	352	NTR.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCTGGTGTCCGACATATTGCA	0.592000														84			31		0	0	0.001786	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381503	133381503	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:133381503G>A	uc001ukz.1	-	6	1955	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.L466L|GOLGA3_uc001ulb.3_Silent_p.L466L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	466					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCGAGCTCAGCGAATCCTGC	0.632000														31			26		0	0	0.004656	0	0
NFIA	4774	broad.mit.edu	37	1	61872334	61872334	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:61872334C>G	uc010oos.2	+	9	1572	c.1490C>G	c.(1489-1491)cCg>cGg	p.P497R	NFIA_uc001czy.3_Missense_Mutation_p.P444R|NFIA_uc001czw.3_Missense_Mutation_p.P452R|NFIA_uc001czv.3_Missense_Mutation_p.P452R|NFIA_uc001czx.3_Missense_Mutation_p.P100R|NFIA_uc009wae.3_Non-coding_Transcript	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	452					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T497T(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTGCCTCTGCCGGTGCCAGAC	0.622000														8			7		0	0	0.001984	0	0
FTCD	10841	broad.mit.edu	37	21	47574192	47574192	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:47574192C>T	uc002zig.3	-	1	153	c.109G>A	c.(109-111)Gat>Aat	p.D37N	FTCD_uc002zif.3_Missense_Mutation_p.D37N|FTCD_uc002zih.3_Missense_Mutation_p.D37N|FTCD_uc010gqf.3_Missense_Mutation_p.D37N|FTCD_uc010gqg.1_5'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	37	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCGTCCACATCCAGCAGCACG	0.672000														12			6		0	0	0.001168	0	0
VWF	7450	broad.mit.edu	37	12	6138638	6138638	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6138638G>A	uc001qnn.1	-	21	3087	c.2837C>T	c.(2836-2838)cCc>cTc	p.P946L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	946	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCCTTCATGGGCCTCTTCAC	0.572000														16			7		0	0	0.003080	0	0
THEMIS	387357	broad.mit.edu	37	6	128135035	128135035	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:128135035C>T	uc011ebt.2	-	3	900	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	THEMIS_uc010kfa.3_Missense_Mutation_p.E154K|THEMIS_uc021zfa.1_Missense_Mutation_p.E251K|THEMIS_uc010kfb.3_Missense_Mutation_p.E216K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	251	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	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						TCTTTGACTTCGACATCTAGA	0.348000														14			43		0	0	0.002522	0	0
USP29	57663	broad.mit.edu	37	19	57640915	57640915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:57640915G>A	uc002qny.3	+	3	1228	c.872G>A	c.(871-873)gGa>gAa	p.G291E	USP29_uc021vci.1_Missense_Mutation_p.G291E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G291R(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAATTTGGGAAACACCTGT	0.473000														22			19		0	0	0.006122	0	0
CHD2	1106	broad.mit.edu	37	15	93499875	93499875	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:93499875G>A	uc002bsp.3	+	15	2571	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CHD2_uc002bso.1_Missense_Mutation_p.E666K	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	666	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATTATGCCGGAGAAGTAAGC	0.428000														39			19		0	0	0.007413	0	0
C2orf48	348738	broad.mit.edu	37	2	10350492	10350492	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:10350492C>T	uc021vds.1	+	2	278	c.249C>T	c.(247-249)ctC>ctT	p.L83L		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	Homo sapiens chromosome 2 open reading frame 48 (C2orf48), mRNA.	83								p.A82T(2)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GCCCAGCCCTCATTGTGAAGG	0.512000														24			13		0	0	0.001855	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815015	106815015	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:106815015G>A	uc003ymd.3	+	7	2728	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	ZFPM2_uc011lhs.2_Missense_Mutation_p.R633Q	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	902					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R902*(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAAGCGAACGAAACAGCCCT	0.458000														9			8		0	0	0.003080	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000901	45000901	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:45000901G>A	uc003cod.3	-	1	302	c.28C>T	c.(28-30)Cga>Tga	p.R10*	ZDHHC3_uc003cog.3_Nonsense_Mutation_p.R10*	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	10						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TCAATGTTTCGGAAGTGGTGG	0.502000														73			8		0	0	0.004482	0	0
CHRDL1	91851	broad.mit.edu	37	X	109943931	109943931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:109943931C>T	uc004eou.4	-	6	909	c.560G>A	c.(559-561)tGg>tAg	p.W187*	CHRDL1_uc004eov.3_Nonsense_Mutation_p.W181*|CHRDL1_uc004eow.3_Nonsense_Mutation_p.W186*|CHRDL1_uc010nps.3_Nonsense_Mutation_p.W186*|CHRDL1_uc011mss.2_Nonsense_Mutation_p.W107*	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	180					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGAATGTTCCCATGACAGTTC	0.398000														14			22		0	0	0.002299	0	0
KRT4	3851	broad.mit.edu	37	12	53202184	53202184	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:53202184G>A	uc001saz.3	-	5	1241	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	340						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TTGGTCAACCGAGATCTGGAG	0.493000														31			8		0	0	0.003080	0	0
RBM22	55696	broad.mit.edu	37	5	150078149	150078149	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:150078149G>A	uc003lst.3	-	3	305	c.183C>T	c.(181-183)gtC>gtT	p.V61V		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	61					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGCATGCGGACTCCAGGGC	0.488000														48			27		0	0	0.007291	0	0
NFAT5	10725	broad.mit.edu	37	16	69727479	69727479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:69727479C>T	uc002exm.2	+	11	4033	c.3697C>T	c.(3697-3699)Cag>Tag	p.Q1233*	NFAT5_uc002exj.2_Nonsense_Mutation_p.Q1157*|NFAT5_uc002exk.2_Nonsense_Mutation_p.Q1157*|NFAT5_uc002exl.2_Nonsense_Mutation_p.Q1251*|NFAT5_uc002exn.2_Nonsense_Mutation_p.Q1250*|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Nonsense_Mutation_p.Q1157*	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1233					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AACCATGTTCCAGTCACAGCA	0.542000														44			33		0	0	0.004289	0	0
PTPN21	11099	broad.mit.edu	37	14	88946640	88946640	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:88946640C>T	uc001xwv.4	-	12	1466	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	PTPN21_uc010twc.2_Missense_Mutation_p.D175N	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	379						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGGCTCTATCCAAGCTTGTC	0.438000														26			24		0	0	0.007291	0	0
LGR6	59352	broad.mit.edu	37	1	202197125	202197125	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:202197125C>T	uc001gxu.3	+	2	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	LGR6_uc001gxv.3_Silent_p.L64L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.L73L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	116						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTACAGCCTGAAAATCCT	0.463000														52			15		0	0	0.006122	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223960	142223960	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142223960C>T	uc003vyi.2	-	1	224	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CACTCTCATCCTGAAATTGAA	0.507000														20			16		0	0	0.006122	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:40958352G>A	uc003jmh.3	+	10	1592	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000														25			21		0	0	0.002299	0	0
TMEM244	253582	broad.mit.edu	37	6	130152523	130152523	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:130152523C>T	uc003qbs.3	-	4	411	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ARHGAP18_uc021zfe.1_Intron	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	Homo sapiens chromosome 6 open reading frame 191 (C6orf191), mRNA.	110						integral to membrane											AAGGGGAATTCCAACATAACT	0.303000														6			11		0	0	0.001855	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043153	153043153	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:153043153G>A	uc001fbg.3	-	1	223	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2A_uc001fbf.3_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA.	55					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000														108			46		0	0	0.003610	0	0
SLFN13	146857	broad.mit.edu	37	17	33768102	33768102	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:33768102C>T	uc002hjk.1	-	3	2536	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	SLFN13_uc010wch.1_Missense_Mutation_p.E736K|SLFN13_uc002hjl.2_Missense_Mutation_p.E736K|SLFN13_uc002hjm.2_Missense_Mutation_p.E405K|SLFN13_uc010ctt.2_Missense_Mutation_p.E418K	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	736						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGGCTATTTCATCTGCATTG	0.443000														82			58		0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35070311	35070311	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35070311C>T	uc003jjm.3	-	6	1159	c.600G>A	c.(598-600)caG>caA	p.Q200Q	PRLR_uc003jjk.1_Silent_p.Q129Q|PRLR_uc003jjg.2_Silent_p.Q200Q|PRLR_uc003jjh.2_Silent_p.Q200Q|PRLR_uc003jji.2_Silent_p.Q129Q|PRLR_uc003jjj.2_Silent_p.Q200Q|PRLR_uc003jjl.4_Silent_p.Q99Q|PRLR_uc021xxl.1_Silent_p.Q200Q|PRLR_uc010iuw.1_Silent_p.Q129Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	200	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	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)	CAAGGTATTTCTGTCCTGGAT	0.448000														19			12		0	0	0.001368	0	0
EXTL3	2137	broad.mit.edu	37	8	28575513	28575513	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:28575513C>T	uc003xgz.1	+	2	2530	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	646						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCTGGGGGTTCTGGCAAGGAA	0.552000														14			11		0	0	0.001368	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736123	140736123	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140736123C>T	uc003ljq.2	+	0	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.F452F	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCACTTTCCCTCATGCTT	0.483000														49			24		0	0	0.005443	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:135692539G>A	uc003lbn.2	-	1	759	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_uc010jef.2_Silent_p.I170I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I179I|TRPC7_uc010jei.2_Silent_p.I179I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000														99			40		0	0	0.007835	0	0
ADAM29	11086	broad.mit.edu	37	4	175898956	175898956	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:175898956A>G	uc003iuc.3	+	4	2950	c.2280A>G	c.(2278-2280)caA>caG	p.Q760Q	ADAM29_uc003iud.3_Silent_p.Q760Q|ADAM29_uc010irr.3_Silent_p.Q760Q|ADAM29_uc011cki.2_Silent_p.Q760Q|ADAM29_uc021xuo.1_Silent_p.Q760Q	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	760	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCCAGAGTCAACCTCCTGTGA	0.567000														40			34		0	0	0.004878	0	0
APC2	10297	broad.mit.edu	37	19	1460252	1460252	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1460252A>G	uc002lsr.1	+	10	1584	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S	APC2_uc002lss.1_Missense_Mutation_p.N41S|APC2_uc002lst.1_Missense_Mutation_p.N459S|APC2_uc002lsu.1_Missense_Mutation_p.N458S	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	459					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCGCTGAACCTGGCGCTG	0.642000														36			19		0	0	0.001523	0	0
RNF213	57674	broad.mit.edu	37	17	78350260	78350260	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78350260C>T	uc002jyh.2	+	52	13635	c.13492C>T	c.(13492-13494)Cat>Tat	p.H4498Y	RNF213_uc021uen.1_Missense_Mutation_p.H4449Y|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATGGCCATTCATGCTGCAGC	0.542000														44			19		0	0	0.008871	0	0
PROM2	150696	broad.mit.edu	37	2	95954033	95954033	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:95954033G>A	uc002suk.3	+	20	2452	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	PROM2_uc002suh.2_Missense_Mutation_p.M773I|PROM2_uc002sui.3_Missense_Mutation_p.M773I|PROM2_uc002suj.3_Missense_Mutation_p.M427I|PROM2_uc002sul.3_Missense_Mutation_p.M299I|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	773						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGTGTGACATGATGGCTGACC	0.642000														50			30		0	0	0.002096	0	0
ABCA5	23461	broad.mit.edu	37	17	67247926	67247926	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:67247926G>A	uc002jif.2	-	33	5715	c.4497C>T	c.(4495-4497)gtC>gtT	p.V1499V	ABCA5_uc002jib.2_Silent_p.V465V|ABCA5_uc002jic.2_Silent_p.V722V|ABCA5_uc002jid.2_Silent_p.V416V|ABCA5_uc002jie.2_Intron|ABCA5_uc002jig.2_Silent_p.V1499V	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1499	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTCGATCACAGACAGCCTCTG	0.438000														23			25		0	0	0.007291	0	0
LAMA2	3908	broad.mit.edu	37	6	129712665	129712665	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:129712665G>A	uc021zfb.1	+	35	5206	c.5101G>A	c.(5101-5103)Gaa>Aaa	p.E1701K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1701K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1701K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1701	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAACTAAATGAAACTCTAGG	0.363000														21			26		0	0	0.004656	0	0
LARP1	23367	broad.mit.edu	37	5	154181779	154181779	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:154181779C>T	uc003lvo.3	+	10	1722	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	LARP1_uc021ygh.1_Silent_p.I438I|LARP1_uc021ygi.1_Silent_p.I643I|LARP1_uc010jie.1_Silent_p.I438I	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	643							RNA binding|protein binding	p.R565R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAGATCCTCATTGTCA	0.567000														44			29		0	0	0.005443	0	0
KCNT2	343450	broad.mit.edu	37	1	196227512	196227512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:196227512G>A	uc001gtd.1	-	25	3083	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.P941L|KCNT2_uc001gtf.1_Missense_Mutation_p.P984L|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.P512L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1008						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCGCAGCAAGGGATGGTCCGA	0.512000														47			21		0	0	0.001882	0	0
FHOD3	80206	broad.mit.edu	37	18	34298434	34298434	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:34298434C>T	uc021uiv.1	+	18	3270	c.3173C>T	c.(3172-3174)cCt>cTt	p.P1058L	FHOD3_uc002kzs.1_Missense_Mutation_p.P883L|FHOD3_uc002kzt.1_Missense_Mutation_p.P866L|FHOD3_uc010dmz.1_Missense_Mutation_p.P598L|FHOD3_uc010dna.1_Missense_Mutation_p.P186L	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	866	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTTCCTCCTCCTCCAGTGTTC	0.577000														15			24		0	0	0.002780	0	0
FCN3	8547	broad.mit.edu	37	1	27697379	27697379	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:27697379C>T	uc001boa.3	-	5	484	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	FCN3_uc001bob.3_Missense_Mutation_p.E149K	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	160	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCAGAATTCAGACTCTTGG	0.557000														26			11		0	0	0.000978	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717341	142717341	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:142717341C>T	uc022cfm.1	-	0	1584	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	SLITRK4_uc022cfl.1_Silent_p.L528L|SLITRK4_uc004fbx.3_Silent_p.L528L|SLITRK4_uc004fby.3_Silent_p.L528L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	528						integral to membrane		p.L528F(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGCCCTCCAAGTCAATCT	0.478000														33			48		0	0	0.003610	0	0
FAM160B1	57700	broad.mit.edu	37	10	116615042	116615042	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:116615042C>T	uc001lcb.3	+	13	2225	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	FAM160B1_uc001lcc.3_Silent_p.F630F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	630										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAGCTGCTTTCTTTGAAGGTC	0.368000														25			4		0	0	0.000248	0	0
PPEF1	5475	broad.mit.edu	37	X	18824656	18824656	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:18824656C>T	uc004cyq.3	+	14	1868	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PPEF1_uc004cyp.3_Missense_Mutation_p.R435C|PPEF1_uc004cyr.3_Missense_Mutation_p.R401C|PPEF1_uc004cys.3_Missense_Mutation_p.R463C|PPEF1_uc011mja.2_Missense_Mutation_p.R398C|PPEF1_uc011mjb.2_Missense_Mutation_p.R407C	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	463					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCAGCCTCTTCGCCAAAGGTG	0.478000														44			35		0	0	0.003755	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239950	5239950	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:5239950C>T	uc003jdl.3	+	15	2573	c.2435C>T	c.(2434-2436)tCg>tTg	p.S812L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S812L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	812	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TACAAATTTTCGGGCACTACT	0.517000														44			35		0	0	0.003271	0	0
LRRC3	81543	broad.mit.edu	37	21	45876823	45876823	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:45876823C>T	uc021wjs.1	+	0	296	c.296C>T	c.(295-297)gCc>gTc	p.A99V	LRRC3_uc002zfa.3_Missense_Mutation_p.A99V	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	99						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTCACAACGCCATCGAGGCC	0.667000														29			7		0	0	0.003080	0	0
ZNF610	162963	broad.mit.edu	37	19	52869116	52869116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52869116C>T	uc002pyx.4	+	5	891	c.485C>T	c.(484-486)tCa>tTa	p.S162L	ZNF610_uc002pyy.4_Missense_Mutation_p.S162L|ZNF610_uc002pyz.4_Missense_Mutation_p.S119L|ZNF610_uc002pza.3_Missense_Mutation_p.S162L	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCCTCAGTTTCACCACTTCAA	0.343000														47			19		0	0	0.008871	0	0
MMP17	4326	broad.mit.edu	37	12	132325329	132325329	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:132325329T>C	uc001ujc.1	+	3	733	c.634T>C	c.(634-636)Ttc>Ctc	p.F212L	MMP17_uc001ujd.1_Missense_Mutation_p.F128L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	212					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCACGCCTTCTTCCCCGGCCA	0.701000														14			8		0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766795	77766795	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77766795G>A	uc003yau.2	+	9	8025	c.7638G>A	c.(7636-7638)ctG>ctA	p.L2546L	ZFHX4_uc003yaw.1_Silent_p.L2501L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2501						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q2546H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAATCCGCTGATGACTGGAC	0.527000										HNSCC(33;0.089)				22			30		0	0	0.003755	0	0
POLA1	5422	broad.mit.edu	37	X	24828029	24828029	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:24828029G>A	uc004dbl.3	+	26	2976	c.2961G>A	c.(2959-2961)acG>acA	p.T987T		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	987					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGATGCATACGAAAGAGATGG	0.279000														13			4		0	0	0.001168	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254328	1254329	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1254328_1254329GG>AA	uc002cks.3	+	9	2569_2570	c.2321_2322GG>AA	c.(2320-2322)tgg>tAA	p.W774*	CACNA1H_uc002ckt.3_Nonsense_Mutation_p.W774*	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	774					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)	GAGCCAGGCTGGATGGGCCGCC	0.693000														6			5		0	0	0.004672	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3653369	3653369	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3653369G>A	uc002lyj.2	-	6	929	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PIP5K1C_uc010xhq.2_Silent_p.F280F|PIP5K1C_uc010xhr.2_Silent_p.F280F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	280	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTCCTGCATGAAGTCCAGGT	0.642000														18			23		0	0	0.002299	0	0
SIAH3	283514	broad.mit.edu	37	13	46357646	46357646	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:46357646C>T	uc001vap.3	-	1	764	c.682G>A	c.(682-684)Gtg>Atg	p.V228M		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	228					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TCCGTAATCACCGAGTCCACG	0.612000														23			7		0	0	0.003080	0	0
ISLR2	57611	broad.mit.edu	37	15	74425599	74425599	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:74425599C>G	uc002axd.3	+	3	1273	c.504C>G	c.(502-504)gaC>gaG	p.D168E	ISLR2_uc002axe.3_Missense_Mutation_p.D168E|ISLR2_uc010bjg.3_Missense_Mutation_p.D168E|ISLR2_uc010bjf.3_Missense_Mutation_p.D168E|ISLR2_uc021sqe.1_Missense_Mutation_p.D168E	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	168					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCACCTTCGACGCGCTTAGCG	0.667000														41			31		0	0	0.002096	0	0
KIF14	9928	broad.mit.edu	37	1	200544813	200544813	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:200544813C>T	uc010ppk.1	-	21	3911	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	KIF14_uc010ppj.1_Missense_Mutation_p.G667S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1158	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTGTTACTACCATTACTCTAA	0.328000														31			10		0	0	0.008291	0	0
NRXN3	9369	broad.mit.edu	37	14	79434617	79434617	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:79434617T>C	uc001xun.3	+	10	2442	c.1951T>C	c.(1951-1953)Ttg>Ctg	p.L651L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.L776L	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	257					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGTGGACTTGAATGGACG	0.512000														21			19		0	0	0.008871	0	0
DSP	1832	broad.mit.edu	37	6	7584736	7584736	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:7584736G>A	uc003mxp.1	+	23	7520	c.7241G>A	c.(7240-7242)gGa>gAa	p.G2414E	DSP_uc003mxq.1_Missense_Mutation_p.G1815E|DSP_uc021yle.1_Missense_Mutation_p.G1971E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2414	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATACCAAAGGATTTTTTGAC	0.408000														57			23		0	0	0.002299	0	0
ACSL3	2181	broad.mit.edu	37	2	223773608	223773608	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:223773608C>T	uc002vni.3	+	3	569	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ACSL3_uc002vnj.3_Missense_Mutation_p.P40S	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	40					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AACATACATTCCGTTTTATTT	0.289000			T	ETV1	prostate									31			14		0	0	0.001855	0	0
MXRA5	25878	broad.mit.edu	37	X	3238414	3238414	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:3238414C>T	uc004crg.4	-	4	5469	c.5312G>A	c.(5311-5313)aGg>aAg	p.R1771K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1771						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)				GGAATGTATCCTGTTGTAGGA	0.522000														22			12		0	0	0.001855	0	0
USP28	57646	broad.mit.edu	37	11	113698048	113698048	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:113698048A>G	uc001poh.3	-	10	1127	c.1094T>C	c.(1093-1095)tTt>tCt	p.F365S	USP28_uc001pog.3_Missense_Mutation_p.F73S|USP28_uc010rwy.2_Missense_Mutation_p.F240S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.F365S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	365					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|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)		TGAGAGTTCAAAGGTCAACAC	0.358000														8			12		0	0	0.001855	0	0
FAM181A	90050	broad.mit.edu	37	14	94395403	94395403	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:94395403G>A	uc001ybz.2	+	2	1283	c.958G>A	c.(958-960)Gat>Aat	p.D320N	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.D258N|FAM181A_uc021saz.1_Missense_Mutation_p.D258N|FAM181A_uc010aus.2_Missense_Mutation_p.D258N|FAM181A_uc001yca.2_Missense_Mutation_p.D258N	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	320										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCTCTGCAAGGATGTGGACGG	0.662000														17			17		0	0	0.001523	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387195	104387195	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:104387195G>A	uc001tkh.1	-	9	1412	c.855C>T	c.(853-855)aaC>aaT	p.N285N	GLT8D2_uc001tki.1_Silent_p.N285N	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	285						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GCCACAGGGGGTTAATTGTGG	0.423000														16			10		0	0	0.008291	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782984	115782984	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115782984C>T	uc003krx.4	-	19	3178	c.2469G>A	c.(2467-2469)cgG>cgA	p.R823R	SEMA6A_uc010jck.3_Silent_p.R806R|SEMA6A_uc011cwe.2_Silent_p.R185R|SEMA6A_uc003krv.4_Silent_p.R233R|SEMA6A_uc003krw.4_Silent_p.R283R|SEMA6A_uc010jcj.3_Silent_p.R350R	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	806					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGGGGAGGCCCGCAGGGGCA	0.652000														25			16		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179439073	179439073	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179439073C>T	uc021vsy.1	-	274	64307	c.64082G>A	c.(64081-64083)gGa>gAa	p.G21361E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15056E|TTN_uc021vta.1_Missense_Mutation_p.G14989E|TTN_uc021vtb.1_Missense_Mutation_p.G14864E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22288	Ig-like 113.						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)			TACTGGTTTTCCAGGTGGGTC	0.428000														61			30		0	0	0.007291	0	0
ATP9A	10079	broad.mit.edu	37	20	50235535	50235535	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:50235535C>T	uc002xwg.1	-	19	2163	c.2163G>A	c.(2161-2163)agG>agA	p.R721R	ATP9A_uc010gih.1_Silent_p.R585R|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	721					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AATCATGCTTCCTGCGGAAGG	0.612000														10			40		0	0	0.002852	0	0
TCN2	6948	broad.mit.edu	37	22	31003345	31003346	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:31003345_31003346CC>TT	uc003aip.2	+	0	276_277	c.27_28CC>TT	c.(25-30)ttcctt>ttTTtt	p.L10F	PES1_uc003aio.1_5'Flank|PES1_uc003ain.1_5'Flank|TCN2_uc003air.2_Missense_Mutation_p.L10F	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	10					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTTCCTCTTCCTTCTGGGGGT	0.614000														62			26		0	0	0.004672	0	0
SETDB1	9869	broad.mit.edu	37	1	150933212	150933212	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:150933212A>G	uc001evu.2	+	15	2864	c.2674A>G	c.(2674-2676)Aac>Gac	p.N892D	SETDB1_uc001evv.2_Missense_Mutation_p.N892D|SETDB1_uc009wmg.2_Missense_Mutation_p.N892D	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	892	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGATGGCAACAGCGGTAC	0.498000														33			39		0	0	0.002222	0	0
KRT71	112802	broad.mit.edu	37	12	52941945	52941945	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52941945G>A	uc001sao.3	-	4	1039	c.969C>T	c.(967-969)taC>taT	p.Y323Y		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	323	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTTGGTCTGGTACAGGGCCT	0.582000														25			16		0	0	0.004007	0	0
FOXN1	8456	broad.mit.edu	37	17	26861883	26861883	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26861883C>T	uc010crm.3	+	7	1492	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	FOXN1_uc002hbj.3_Missense_Mutation_p.P432S	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	432					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGCTCCAGGCCCCATTCCTGG	0.677000														16			8		0	0	0.004482	0	0
SYT16	83851	broad.mit.edu	37	14	62462960	62462960	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:62462960G>A	uc001xfu.1	+	0	420	c.223G>A	c.(223-225)Gat>Aat	p.D75N	SYT16_uc010tsd.1_Missense_Mutation_p.D75N	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	75										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACAAGACAATGATTGGAGTCA	0.368000														69			22		0	0	0.001523	0	0
CTCFL	140690	broad.mit.edu	37	20	56078497	56078497	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:56078497C>T	uc010giw.1	-	9	1946	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	CTCFL_uc010gix.1_Missense_Mutation_p.G612E|CTCFL_uc002xym.2_Missense_Mutation_p.G612E|CTCFL_uc010gjb.1_Missense_Mutation_p.G612E|CTCFL_uc010gja.1_Missense_Mutation_p.G562E|CTCFL_uc010gjc.1_Missense_Mutation_p.G612E|CTCFL_uc010gjd.1_Missense_Mutation_p.G612E|CTCFL_uc010gje.3_Missense_Mutation_p.G612E|CTCFL_uc010gjg.3_Missense_Mutation_p.G344E|CTCFL_uc010gjf.3_Missense_Mutation_p.G407E|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	612					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGTACCGTCTCCGTTCGCGGC	0.507000														88			14		0	0	0.004007	0	0
NUP133	55746	broad.mit.edu	37	1	229606358	229606358	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:229606358T>C	uc001htn.3	-	14	2137	c.2045A>G	c.(2044-2046)aAc>aGc	p.N682S		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	682					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGGAGTCAGGTTGGATGGGAT	0.473000														58			30		0	0	0.002445	0	0
CACNA1D	776	broad.mit.edu	37	3	53757981	53757981	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:53757981G>A	uc003dgv.4	+	13	2218	c.2055G>A	c.(2053-2055)cgG>cgA	p.R685R	CACNA1D_uc003dgu.4_Silent_p.R705R|CACNA1D_uc003dgy.4_Silent_p.R685R|CACNA1D_uc003dgw.4_Silent_p.R352R	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	685					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACCAAGCGGAGCACCTTTG	0.473000														17			30		0	0	0.003271	0	0
FRY	10129	broad.mit.edu	37	13	32776087	32776087	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:32776087C>T	uc001utx.3	+	29	4252	c.3756C>T	c.(3754-3756)ccC>ccT	p.P1252P	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAACTATCCCTTCGACATAG	0.393000														51			10		0	0	0.000978	0	0
SPZ1	84654	broad.mit.edu	37	5	79616920	79616920	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:79616920G>A	uc011ctk.1	-	0		c.739C>T			SPZ1_uc003kgn.3_Missense_Mutation_p.E296K			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GCCAAATAATGAAGTGTCGGC	0.418000														29			19		0	0	0.008871	0	0
NDOR1	27158	broad.mit.edu	37	9	140109353	140109353	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:140109353C>T	uc004clx.3	+	7	1059	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NDOR1_uc004clw.3_Silent_p.L316L|NDOR1_uc011mes.2_Silent_p.L316L|NDOR1_uc004cly.3_Silent_p.L282L	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	316	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTTCGAACTCCTGGCCTGTC	0.637000														3			34		0	0	0.002096	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821348	5821348	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:5821348G>A	uc010ndi.3	-	5	1946	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	NLGN4X_uc004crp.3_Silent_p.A477A|NLGN4X_uc010ndh.3_Silent_p.A457A|NLGN4X_uc004crq.3_Silent_p.A457A|NLGN4X_uc004crr.3_Silent_p.A457A|NLGN4X_uc010ndj.3_Silent_p.A457A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	457					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.P494P(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGTGCAGGTCGGCGGTGGCCA	0.617000														12			21		0	0	0.002299	0	0
RBBP6	5930	broad.mit.edu	37	16	24580152	24580152	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:24580152C>T	uc002dmh.3	+	16	3181	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	RBBP6_uc010vcb.1_Missense_Mutation_p.S581F|RBBP6_uc002dmi.3_Missense_Mutation_p.S680F|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.S547F	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	714					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGTTCACGCTCTTATTCTCGA	0.433000														28			21		0	0	0.001882	0	0
LAT2	7462	broad.mit.edu	37	7	73638363	73638363	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:73638363G>A	uc003uag.3	+	11	1014	c.464G>A	c.(463-465)gGc>gAc	p.G155D	LAT2_uc003uah.3_Missense_Mutation_p.G155D|LAT2_uc003uai.3_Missense_Mutation_p.G155D|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	155					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAGCAGGAGGGCATAGGTGGC	0.627000														9			8		0	0	0.003080	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026829	93026829	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:93026829C>T	uc022axs.1	-	3	810	c.623G>A	c.(622-624)cGc>cAc	p.R208H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R122H|RUNX1T1_uc010mam.3_Missense_Mutation_p.R122H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R112H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R149H|RUNX1T1_uc022axo.1_Missense_Mutation_p.R149H|RUNX1T1_uc010mao.3_Missense_Mutation_p.R122H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R160H|RUNX1T1_uc022axp.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axq.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axr.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axt.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axu.1_Missense_Mutation_p.R129H|RUNX1T1_uc022axv.1_Missense_Mutation_p.R149H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R112H|RUNX1T1_uc003yff.1_Missense_Mutation_p.R112H|RUNX1T1_uc003yfg.2_Missense_Mutation_p.R112H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507000														24			23		0	0	0.004656	0	0
FAM13C	220965	broad.mit.edu	37	10	61029691	61029691	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61029691G>A	uc010qif.1	-	6	903	c.837C>T	c.(835-837)gcC>gcT	p.A279A	FAM13C_uc010qid.2_Silent_p.A174A|FAM13C_uc001jkn.3_Silent_p.A257A|FAM13C_uc001jko.3_Silent_p.A257A|FAM13C_uc010qie.2_Silent_p.A174A|FAM13C_uc001jkp.3_Silent_p.A174A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	257										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGGAGATGGGGCTGACTCGG	0.443000														14			14		0	0	0.004007	0	0
ART4	420	broad.mit.edu	37	12	14993593	14993593	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:14993593C>T	uc001rcl.1	-	1	1005	c.639G>A	c.(637-639)ctG>ctA	p.L213L	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Silent_p.L213L	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	213					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CCTCTTCTTTCAGGAGGGATG	0.488000														22			6		0	0	0.001168	0	0
UNC5D	137970	broad.mit.edu	37	8	35624480	35624480	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:35624480C>T	uc003xjr.2	+	14	2702	c.2374C>T	c.(2374-2376)Ctg>Ttg	p.L792L	UNC5D_uc003xjs.2_Silent_p.L787L|UNC5D_uc003xju.2_Silent_p.L368L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	792					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCCTTCTCCCTGGAGCGTTA	0.582000														22			22		0	0	0.001882	0	0
TNNC2	7125	broad.mit.edu	37	20	44453461	44453461	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44453461C>T	uc002xpr.3	-	1	82	c.16G>A	c.(16-18)Gct>Act	p.A6T		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	6					muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTGGCCTCAGCCTGCTGGTCC	0.602000														103			20		0	0	0.003954	0	0
CCDC36	339834	broad.mit.edu	37	3	49274047	49274047	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:49274047C>T	uc003cwk.2	+	4	510	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CCDC36_uc003cwl.4_Silent_p.F41F|CCDC36_uc011bck.1_Silent_p.F41F|CCDC36_uc010hkt.2_Non-coding_Transcript	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	41										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		ATTCCCAGTTCCTCTTTGGAT	0.378000														29			4		0	0	0.000248	0	0
IGFL2	147920	broad.mit.edu	37	19	46664004	46664004	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:46664004C>T	uc002peb.3	+	3	531	c.240C>T	c.(238-240)ccC>ccT	p.P80P	IGFL2_uc010xxv.2_Silent_p.P69P	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	69						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GTGGTCCCCCCTGCACCTTCT	0.547000														115			75		0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1459899	1459899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:1459899G>A	uc002qwr.3	+	6	750	c.664G>A	c.(664-666)Gat>Aat	p.D222N	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D222N|TPO_uc002qwx.3_Missense_Mutation_p.D222N|TPO_uc002qwu.3_Missense_Mutation_p.D222N|TPO_uc010yio.2_Missense_Mutation_p.D222N|TPO_uc010yip.2_Missense_Mutation_p.D222N	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	222					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTTGTCACAGATGATGACCG	0.532000														15			15		0	0	0.004007	0	0
WRNIP1	56897	broad.mit.edu	37	6	2766621	2766621	+	Silent	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:2766621C>G	uc003mtz.3	+	0	956	c.765C>G	c.(763-765)ctC>ctG	p.L255L	WRNIP1_uc003mua.3_Silent_p.L255L	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	255					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGCTCGCTCCTGGAGACCA	0.652000														2			4		0	0	0.000602	0	0
TTC13	79573	broad.mit.edu	37	1	231056309	231056309	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:231056309G>A	uc001huf.4	-	16	1972	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	TTC13_uc001hug.4_Missense_Mutation_p.R591W|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.R534W	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	644							binding	p.R644L(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGGGCTTCCCGAACTTCCAGC	0.373000														73			20		0	0	0.004656	0	0
GAPT	202309	broad.mit.edu	37	5	57790482	57790482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:57790482G>A	uc003jro.1	+	2	513	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	GAPT_uc021xyy.1_Missense_Mutation_p.R40Q	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	40					B cell activation	integral to membrane|plasma membrane		p.R40Q(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GTTGCCACACGATTTACCTTA	0.433000														20			12		0	0	0.001855	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														69			26		0	0	0.008361	0	0
ZFP64	55734	broad.mit.edu	37	20	50701121	50701121	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:50701121G>A	uc002xwk.3	-	8	2262	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	ZFP64_uc002xwj.3_Missense_Mutation_p.P419L	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCTCTAGGGGAGCCTCGAG	0.622000														34			9		0	0	0.006214	0	0
TIMM50	92609	broad.mit.edu	37	19	39976354	39976354	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:39976354C>T	uc002olu.1	+	5	841	c.708C>T	c.(706-708)tgC>tgT	p.C236C	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	133	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGCCCTTGCCTTCTCCCAG	0.627000														35			25		0	0	0.006320	0	0
SMURF2	64750	broad.mit.edu	37	17	62594524	62594524	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:62594524G>A	uc002jep.1	-	2	564	c.176C>T	c.(175-177)cCa>cTa	p.P59L	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	59	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATTCCACTTTGGATCAAGCGT	0.353000														40			27		0	0	0.001786	0	0
ASIP	434	broad.mit.edu	37	20	32850692	32850692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:32850692C>T	uc002xah.1	+	1	225	c.215C>T	c.(214-216)tCt>tTt	p.S72F		NM_001672	NP_001663	P42127	ASIP_HUMAN	Homo sapiens agouti signaling protein (ASIP), mRNA.	72	Arg/Lys-rich (basic).				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						AAGAAAAGATCTTCTAAGGTA	0.463000														19			50		0	0	0.003610	0	0
KREMEN1	83999	broad.mit.edu	37	22	29534816	29534816	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:29534816T>C	uc011akm.1	+	6	1222	c.1169T>C	c.(1168-1170)gTt>gCt	p.V390A	KREMEN1_uc003ael.3_Intron|KREMEN1_uc011akn.2_Missense_Mutation_p.V273A	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	388					Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						AGCCACAGAGTTGAAGGTAGC	0.527000														33			16		0	0	0.003163	0	0
PTPRF	5792	broad.mit.edu	37	1	44069654	44069654	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:44069654G>A	uc001cjr.3	+	15	3171	c.2831G>A	c.(2830-2832)aGg>aAg	p.R944K	PTPRF_uc001cjs.3_Missense_Mutation_p.R935K|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.R504K|PTPRF_uc001cjv.3_Missense_Mutation_p.R404K|PTPRF_uc001cjw.3_Missense_Mutation_p.R170K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	944	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGCGGAGAGGAACGGGCGC	0.607000														18			10		0	0	0.008291	0	0
NAGPA	51172	broad.mit.edu	37	16	5083627	5083627	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:5083627A>G	uc002cyg.3	-	1	216	c.189T>C	c.(187-189)agT>agC	p.S63S	ALG1_uc002cyj.3_5'Flank|NAGPA_uc002cyh.3_Non-coding_Transcript|NAGPA_uc010uxx.2_Silent_p.S63S|ALG1_uc021tco.1_5'Flank	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	63					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGGAGGCCAACTCTCGTGCT	0.761000														11			5		0	0	0.001168	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603971	26603971	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26603971G>A	uc002has.3	-	2	991	c.504C>T	c.(502-504)atC>atT	p.I168I						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		TCAGGTTCTCGATGGTCTTGA	0.522000														36			22		0	0	0.002780	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192186	125192186	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:125192186T>C	uc010flu.3	+	4	1019	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	CNTNAP5_uc002tno.3_Missense_Mutation_p.F219L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	219	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGGGTCCTGTTCCATGGAGA	0.512000														23			10		0	0	0.008291	0	0
ALMS1	7840	broad.mit.edu	37	2	73651716	73651716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:73651716C>T	uc002sje.1	+	4	1034	c.923C>T	c.(922-924)tCt>tTt	p.S308F	ALMS1_uc002sjf.1_Missense_Mutation_p.S266F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	308					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTGTTGGGTCTCAGTGCCCT	0.433000														25			10		0	0	0.008291	0	0
TRIO	7204	broad.mit.edu	37	5	14462919	14462919	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:14462919G>A	uc003jff.3	+	35	5558	c.5552G>A	c.(5551-5553)gGg>gAg	p.G1851E	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.G1500E	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.G1851W(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCTCCTCGGGGATGCAGAGC	0.612000														46			45		0	0	0.003610	0	0
SPSB1	80176	broad.mit.edu	37	1	9416002	9416002	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:9416002A>T	uc010oae.2	+	1	391	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	SPSB1_uc001apv.3_Missense_Mutation_p.T18S	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	18					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGGACCCCACGTACAGGCC	0.577000														35			17		0	0	0.004990	0	0
VEGFC	7424	broad.mit.edu	37	4	177608419	177608419	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:177608419C>T	uc003ius.1	-	5	1497	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACATTTTCCAGGATTTAG	0.438000														79			50		0	0	0.003610	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208688	23208688	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:23208688C>T	uc002dlm.1	+	5	1156	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	339				F -> S (in Ref. 1; CAA60633).	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.P338L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGTATCCCTTCGTCGAAGATG	0.453000														25			18		0	0	0.007413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478869	110478869	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110478869G>A	uc003yne.3	+	49	8580	c.8476G>A	c.(8476-8478)Gaa>Aaa	p.E2826K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2826					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGTACTCAGGAAGCTGAGTG	0.453000										HNSCC(38;0.096)				3			3		0	0	0.004672	0	0
CHD5	26038	broad.mit.edu	37	1	6214781	6214781	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:6214781G>A	uc001amb.2	-	4	795	c.684C>T	c.(682-684)gtC>gtT	p.V228V		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	228					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGGGGGGCTGACGGCTAGCG	0.687000														17			12		0	0	0.002450	0	0
RNF152	220441	broad.mit.edu	37	18	59483240	59483240	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:59483240C>T	uc002lih.1	-	1	869	c.457G>A	c.(457-459)Gag>Aag	p.E153K	RNF152_uc021ula.1_Missense_Mutation_p.E153K	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	153					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TCCTGCTCCTCCTCCACCGCC	0.657000														41			7		0	0	0.003080	0	0
KRT71	112802	broad.mit.edu	37	12	52943849	52943849	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52943849C>G	uc001sao.3	-	1	690	c.620G>C	c.(619-621)aGg>aCg	p.R207T		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	207	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCGCACATTCCTCAGCTCCGA	0.602000														64			15		0	0	0.006122	0	0
MYH8	4626	broad.mit.edu	37	17	10303856	10303856	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10303856G>A	uc002gmm.2	-	26	3681	c.3586C>T	c.(3586-3588)Cgg>Tgg	p.R1196W	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1196					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTTCTTCCGAAGAGCAGCC	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					34			34		0	0	0.002445	0	0
ZIK1	284307	broad.mit.edu	37	19	58101380	58101380	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58101380T>C	uc002qpg.3	+	4	297	c.200_splice	c.e4-1	p.G67_splice	ZIK1_uc002qph.3_Splice_Site_p.G12_splice|ZIK1_uc002qpi.3_Splice_Site_p.G54_splice|ZIK1_uc002qpj.3_Splice_Site	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTTTCAGGTTGTGGCCATG	0.443000														12			8		0	0	0.003080	0	0
PRKG1	5592	broad.mit.edu	37	10	54040658	54040658	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:54040658C>T	uc001jjm.3	+	12	1696	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F	PRKG1_uc001jjo.3_Missense_Mutation_p.L505F|PRKG1_uc009xow.2_Missense_Mutation_p.L208F|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCCAGAAAATCTCATCCTAGA	0.393000														22			25		0	0	0.005443	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672856	10672856	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:10672856C>T	uc002kos.2	-	50	8011	c.7837G>A	c.(7837-7839)Gat>Aat	p.D2613N	PIEZO2_uc002koq.3_Missense_Mutation_p.D405N	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2613						integral to membrane	ion channel activity										ATGGTAATATCCATGAAATTA	0.353000														6			9		0	0	0.006214	0	0
ZNF484	83744	broad.mit.edu	37	9	95610021	95610021	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:95610021G>A	uc004asu.1	-	4	1197	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H352Y|ZNF484_uc004asv.1_Missense_Mutation_p.H314Y|ZNF484_uc010mrb.1_Missense_Mutation_p.H314Y	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCAGAATGAATTCTCTGG	0.368000														39			16		0	0	0.003163	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110466975	110466975	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110466975C>A	uc003yne.3	+	44	6872	c.6768C>A	c.(6766-6768)ttC>ttA	p.F2256L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2256	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATCCCCATTCCAACACAAGG	0.458000										HNSCC(38;0.096)				46			10		1.05317e-09	1.2531e-09	0.002450	1	0
FBXO18	84893	broad.mit.edu	37	10	5960373	5960373	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:5960373T>A	uc001iit.3	+	13	2289	c.2185T>A	c.(2185-2187)Tat>Aat	p.Y729N	FBXO18_uc001iir.3_Missense_Mutation_p.Y604N|FBXO18_uc001iis.3_Missense_Mutation_p.Y678N|FBXO18_uc009xig.3_Missense_Mutation_p.Y604N	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	678					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAGCAGATCTATACCTTCCG	0.527000														48			36		0	0	0.002836	0	0
FLG	2312	broad.mit.edu	37	1	152281696	152281696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152281696G>A	uc001ezu.1	-	2	5702	c.5666C>T	c.(5665-5667)tCc>tTc	p.S1889F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1889	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCGAGAGGAAGCTTCATG	0.577000									Ichthyosis					226			90		0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166964482	166964482	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:166964482C>T	uc003irh.2	+	11	2082	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	TLL1_uc011cjn.2_Missense_Mutation_p.P479S|TLL1_uc011cjo.2_Missense_Mutation_p.P303S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	479	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCCAATTATCCTGATGACTA	0.423000														29			32		0	0	0.002445	0	0
CSMD3	114788	broad.mit.edu	37	8	114111130	114111130	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:114111130G>A	uc003ynu.3	-	4	931	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CSMD3_uc003ynt.3_Missense_Mutation_p.P218S|CSMD3_uc011lhx.2_Missense_Mutation_p.P258S|CSMD3_uc010mcx.1_Missense_Mutation_p.P258S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	258	CUB 2.					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						TACTCATTAGGAAAACTAGGG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				20			11		0	0	0.008291	0	0
CHD8	57680	broad.mit.edu	37	14	21871805	21871805	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21871805G>A	uc001war.2	-	15	3390	c.3325C>T	c.(3325-3327)Cta>Tta	p.L1109L	CHD8_uc001was.2_Silent_p.L830L|CHD8_uc001wav.1_Silent_p.L272L	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1109					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCTGTTAGGATTTTTTCT	0.388000														2			4		0	0	0.000248	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203846296	203846296	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:203846296C>T	uc002uzo.2	+	13	1857	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	ALS2CR8_uc010zia.1_Missense_Mutation_p.S450L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S450L|ALS2CR8_uc010zic.1_Missense_Mutation_p.S438L|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S526L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	526										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CCAGGAGAATCAATTACCACC	0.348000														66			31		0	0	0.002096	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339514	72339514	+	RNA	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:72339514T>A	uc010lal.1	-	0		c.142A>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCACTCCATCTTCCTTTTCCA	0.572000														14			12		0	0	0.001855	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138174	126138174	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:126138174G>A	uc001uhe.1	+	8	2163	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D231N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	719						integral to membrane		p.Y718H(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGACATTTACGATCCTAAGGA	0.403000														47			20		0	0	0.008871	0	0
GABRA3	2556	broad.mit.edu	37	X	151376557	151376557	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151376557C>T	uc010ntk.1	-	6	934	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	232					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTGCCACTTCCACGGATTTG	0.423000														25			20		0	0	0.002299	0	0
ZNF506	440515	broad.mit.edu	37	19	19906328	19906328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19906328C>T	uc010eci.2	-	3	516	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.C91Y	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						GTGCACTGGACACTCATCTAC	0.308000														34			16		0	0	0.008871	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002937	52002937	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52002937C>T	uc002pwx.1	-	2	898	c.842G>A	c.(841-843)gGg>gAg	p.G281E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G163E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G8E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	281	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCAGGGTCCCCGGGATGGA	0.637000														34			23		0	0	0.003954	0	0
PTPRF	5792	broad.mit.edu	37	1	44070956	44070956	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:44070956G>A	uc001cjr.3	+	17	3571	c.3231G>A	c.(3229-3231)ctG>ctA	p.L1077L	PTPRF_uc001cjs.3_Silent_p.L1068L|PTPRF_uc001cju.3_Silent_p.L455L|PTPRF_uc009vwt.3_Silent_p.L637L|PTPRF_uc001cjv.3_Silent_p.L537L|PTPRF_uc001cjw.3_Silent_p.L303L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1077	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTTTGTGCTGATGAACCGTG	0.622000														32			26		0	0	0.001786	0	0
GFRAL	389400	broad.mit.edu	37	6	55216050	55216050	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55216050G>A	uc003pcm.1	+	5	457	c.371_splice	c.e5-1	p.G124_splice		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	124						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGCTTTCAGGATTCAAAGG	0.433000														87			49		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9049710	9049710	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9049710G>A	uc002mkp.3	-	4	32125	c.31921C>T	c.(31921-31923)Cca>Tca	p.P10641S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10643	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						ATATTTGTTGGAATGGCTGAG	0.478000														29			13		0	0	0.002450	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822720	26822720	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26822720G>A	uc010wan.2	+	9	1570	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	SLC13A2_uc010wam.2_Silent_p.Q408Q|SLC13A2_uc002hbh.3_Silent_p.Q452Q|SLC13A2_uc010wao.2_Silent_p.Q409Q|SLC13A2_uc002hbi.3_Silent_p.Q381Q	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	452						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCCACTGCAGAGTGTGCCAG	0.622000														40			23		0	0	0.002780	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339090	13339090	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:13339090G>A	uc003gms.3	+	0		c.4054G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						TTGGAATTCAGGGCATTGCTA	0.423000														3			7		0	0	0.003080	0	0
ERN1	2081	broad.mit.edu	37	17	62137897	62137897	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:62137897G>A	uc002jdz.2	-	10	1251	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	380					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGATTGTTGGGAAATCTCTCC	0.468000														51			29		0	0	0.002096	0	0
DCLK3	85443	broad.mit.edu	37	3	36759600	36759600	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:36759600G>A	uc003cgi.2	-	3	2145	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	552	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P551S(1)		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						CTGCGGAATGGGGGAAAGCCA	0.557000														109			14		0	0	0.002450	0	0
CD209	30835	broad.mit.edu	37	19	7808068	7808068	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:7808068C>T	uc002mht.2	-	6	1139	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	CD209_uc010xju.1_Missense_Mutation_p.E197K|CD209_uc010dvp.2_Missense_Mutation_p.G296E|CD209_uc002mhr.2_Missense_Mutation_p.E334K|CD209_uc002mhs.2_Missense_Mutation_p.E288K|CD209_uc002mhu.2_Missense_Mutation_p.E266K|CD209_uc010dvq.2_Missense_Mutation_p.E352K|CD209_uc002mhq.2_Missense_Mutation_p.E358K|CD209_uc002mhv.2_Missense_Mutation_p.E334K|CD209_uc002mhx.2_Missense_Mutation_p.E314K|CD209_uc002mhw.2_Missense_Mutation_p.E222K|CD209_uc010dvr.2_Missense_Mutation_p.E122K	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	358	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTAAATTCCGCGCAGTCT	0.527000														134			87		0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233161126	233161126	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:233161126C>T	uc001hvl.2	-	25	4606	c.4371G>A	c.(4369-4371)agG>agA	p.R1457R	PCNXL2_uc001hvk.1_Silent_p.R109R|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1457						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTCTACCTCCCTCTGCTGGC	0.552000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			16		0	0	0.004990	0	0
CLSTN1	22883	broad.mit.edu	37	1	9793578	9793578	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:9793578C>A	uc001aqh.3	-	15	3067	c.2308G>T	c.(2308-2310)Gag>Tag	p.E770*	CLSTN1_uc001aqi.3_Nonsense_Mutation_p.E760*|CLSTN1_uc010oag.2_Nonsense_Mutation_p.E751*|CLSTN1_uc001aqf.3_Nonsense_Mutation_p.E6*	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	770					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAAAACCTCCTCGTAGCTG	0.597000														24			12		2.27111e-07	2.69729e-07	0.001368	1	0
ADH1B	125	broad.mit.edu	37	4	100239275	100239275	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:100239275G>A	uc003hus.4	-	2	271	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ADH1B_uc003hut.4_Missense_Mutation_p.P23S|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.P23S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	63					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATCACAGGAAGGGGGGTC	0.507000														43			50		0	0	0.003610	0	0
GCM2	9247	broad.mit.edu	37	6	10874455	10874455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:10874455G>A	uc003mzn.4	-	4	1366	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	432					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTCACCGGAGGACCCCAGGGT	0.537000														27			11		0	0	0.000978	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736706	140736706	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140736706C>T	uc003ljq.2	+	0	1939	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Nonsense_Mutation_p.Q647*|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTCGTCCAGGACCATGG	0.657000														14			8		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13717526	13717526	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13717526G>A	uc003jfd.2	-	72	12645	c.12603C>T	c.(12601-12603)ttC>ttT	p.F4201F	DNAH5_uc003jfc.2_Silent_p.F369F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4201	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F4201F(2)|p.K4200T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGGGCACCGAACTTGCGCC	0.537000									Kartagener syndrome					15			6		0	0	0.003080	0	0
LILRB4	11006	broad.mit.edu	37	19	55179348	55179348	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:55179348G>A	uc002qgp.3	+	11	1587	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	LILRB4_uc002qgq.3_Missense_Mutation_p.D408N|LILRB4_uc010ert.3_Missense_Mutation_p.D450N|LILRB4_uc010eru.3_Missense_Mutation_p.D439N	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	409						integral to membrane|plasma membrane	antigen binding|receptor activity	p.Q408Q(1)|p.Q408K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCCCCCAGGATGTGACCTA	0.637000														40			23		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179443621	179443621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179443621C>T	uc021vsy.1	-	268	60657	c.60432G>A	c.(60430-60432)atG>atA	p.M20144I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M13839I|TTN_uc021vta.1_Missense_Mutation_p.M13772I|TTN_uc021vtb.1_Missense_Mutation_p.M13647I|AX746670_uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21071	Fibronectin type-III 46.						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)			AGGTATATTCCATGCCCTCAT	0.463000														58			22		0	0	0.002780	0	0
OR6B3	150681	broad.mit.edu	37	2	240984529	240984529	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:240984529C>T	uc010zoe.2	-	0	961	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E321*(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGATGAAGTTCCAGAAGACTA	0.423000														60			33		0	0	0.002836	0	0
PGK2	5232	broad.mit.edu	37	6	49754169	49754169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:49754169G>A	uc003ozu.3	-	0	885	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	244					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GTACCTTAAGGAAGGTATAAG	0.418000														42			33		0	0	0.003755	0	0
EAPP	55837	broad.mit.edu	37	14	35005309	35005309	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:35005309G>A	uc001wsd.1	-	1	356	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	83					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCAGTTCCCAGAGAGGATAAC	0.363000														6			5		0	0	0.000602	0	0
ODZ4	26011	broad.mit.edu	37	11	78413324	78413324	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:78413324G>A	uc001ozl.4	-	27	4797	c.4334C>T	c.(4333-4335)cCc>cTc	p.P1445L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1445					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GCAGTGCATGGGCCTCCCGGC	0.542000														8			18		0	0	0.004990	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600013	31600013	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31600013C>T	uc003nvb.4	+	15	3812	c.3563C>T	c.(3562-3564)cCa>cTa	p.P1188L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P1188L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1188	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGAGCCCTCCAGCCAAGTCT	0.642000														26			8		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9074696	9074696	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9074696C>T	uc002mkp.3	-	2	12954	c.12750G>A	c.(12748-12750)acG>acA	p.T4250T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4252	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCCATATTCGTCACTGCTG	0.478000														52			25		0	0	0.008361	0	0
AQPEP	206338	broad.mit.edu	37	5	115335491	115335491	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115335491T>A	uc003kro.3	+	6	1571	c.1407T>A	c.(1405-1407)aaT>aaA	p.N469K	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	469					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTTTACATAATATCCTCAGAG	0.378000														15			14		0	0	0.001855	0	0
EPN2	22905	broad.mit.edu	37	17	19216440	19216440	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:19216440C>T	uc002gvd.4	+	6	1443	c.995C>T	c.(994-996)aCt>aTt	p.T332I	EPN2_uc010cql.1_Missense_Mutation_p.T41I|EPN2_uc002gve.4_Missense_Mutation_p.T275I|EPN2_uc002gvf.4_Missense_Mutation_p.T47I|EPN2_uc010vyo.2_Splice_Site_p.T40_splice|EPN2_uc002gvh.1_Missense_Mutation_p.T332I|EPN2_uc010vyp.2_Splice_Site_p.T268_splice|EPN2_uc010vyq.2_Missense_Mutation_p.T269I|EPN2_uc002gvj.3_Splice_Site	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	332					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCACAGCAGACTACGCTGTTG	0.527000														56			32		0	0	0.004289	0	0
PGAM2	5224	broad.mit.edu	37	7	44104771	44104771	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:44104771C>T	uc003tjs.3	-	0	416	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	120					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCGGGATGTCGAAGGAGCGC	0.622000														15			8		0	0	0.004482	0	0
PCGF2	7703	broad.mit.edu	37	17	36894823	36894823	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:36894823G>A	uc002hqp.1	-	7	697	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	151					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CCATTCTCCAGGGGGCCCTTC	0.607000														53			22		0	0	0.002780	0	0
NBPF3	84224	broad.mit.edu	37	1	21808248	21808248	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:21808248C>T	uc001ber.3	+	12	1942	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	NBPF3_uc001bes.3_Missense_Mutation_p.S475F|NBPF3_uc009vqb.3_Missense_Mutation_p.S519F|NBPF3_uc010odm.2_Missense_Mutation_p.S461F	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	531	NBPF 4.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGGCTTTTCTCTTGACGTG	0.458000														10			17		0	0	0.002780	0	0
GPR128	84873	broad.mit.edu	37	3	100387893	100387893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:100387893G>A	uc003duc.3	+	14	2348	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	GPR128_uc011bhc.2_Missense_Mutation_p.D395N|GPR128_uc003dud.3_Missense_Mutation_p.D217N	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	694					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCTAGTTAATGATGATAGCAT	0.398000														29			17		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179452456	179452456	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179452456G>A	uc021vsy.1	-	254	56101	c.55876C>T	c.(55876-55878)Ctc>Ttc	p.L18626F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L12321F|TTN_uc021vta.1_Missense_Mutation_p.L12254F|TTN_uc021vtb.1_Missense_Mutation_p.L12129F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19553							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)			ATAGCAAAGAGACGAATAGGG	0.448000														15			14		0	0	0.001855	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433775	73433775	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:73433775C>T	uc003dpl.1	-	9	2038	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	PDZRN3_uc011bgh.1_Missense_Mutation_p.E305K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E346K|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Missense_Mutation_p.E365K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E368K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	648							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCAGGAGCTCGCGGAAGCGC	0.657000														33			35		0	0	0.002836	0	0
ANGPT1	284	broad.mit.edu	37	8	108264104	108264104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:108264104C>T	uc003ymn.3	-	8	1944	c.1476G>A	c.(1474-1476)atG>atA	p.M492I	ANGPT1_uc011lhv.2_Missense_Mutation_p.M292I|ANGPT1_uc003ymo.3_Missense_Mutation_p.M491I	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	492	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAGGTCGAATCATCATAGTTG	0.413000														34			12		0	0	0.003163	0	0
TRMU	55687	broad.mit.edu	37	22	46748035	46748035	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:46748035C>T	uc003bhp.3	+	5	1033	c.669C>T	c.(667-669)ttC>ttT	p.F223F	TRMU_uc011arb.1_Silent_p.F223F|TRMU_uc003bhq.3_Silent_p.F5F|TRMU_uc003bhs.3_Silent_p.F223F|TRMU_uc003bhr.3_Silent_p.F109F|TRMU_uc003bht.3_Silent_p.F76F|TRMU_uc003bhu.3_Silent_p.F5F|TRMU_uc003bhv.3_Silent_p.F76F	NM_018006	NP_060476	O75648	MTU1_HUMAN	Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GCATGTGTTTCATCGGGAAGA	0.567000														161			62		0	0	0.003610	0	0
C12orf36	283422	broad.mit.edu	37	12	13529176	13529176	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13529176C>T	uc001rbs.2	-	1	416	c.164G>A	c.(163-165)gGg>gAg	p.G55E						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		cctctgagtccctccAAGCAG	0.507000														33			28		0	0	0.001786	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701981	96701981	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:96701981G>A	uc001kka.4	+	2	389	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP2C9_uc009xut.3_Missense_Mutation_p.E122K|CYP2C9_uc001kjz.3_Missense_Mutation_p.E122K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	122					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAAATGGAAGGAGATCCGGCG	0.517000														36			16		0	0	0.004990	0	0
FBN3	84467	broad.mit.edu	37	19	8196555	8196555	+	Missense_Mutation	SNP	C	T	T	rs138440561		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:8196555C>T	uc002mjf.3	-	13	1890	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	625	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCCCTTCTCGATGGCCCCA	0.682000														22			25		0	0	0.005443	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685506	111685506	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111685506T>C	uc010hqa.3	+	13	3535	c.3124T>C	c.(3124-3126)Ttg>Ctg	p.L1042L	PHLDB2_uc003dyc.3_Silent_p.L1026L|PHLDB2_uc003dyd.3_Silent_p.L999L|PHLDB2_uc003dyg.3_Silent_p.L1042L|PHLDB2_uc003dyh.3_Silent_p.L999L|PHLDB2_uc003dyi.3_Silent_p.L533L|PHLDB2_uc003dyj.3_Silent_p.L97L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1042						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAGACTTTTGAAGCAGGC	0.458000														17			37		0	0	0.006230	0	0
ANXA9	8416	broad.mit.edu	37	1	150956527	150956527	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:150956527C>T	uc001ewa.2	+	4	719	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	83					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACGAAACTTCCAGGAGCGCA	0.607000														24			7		0	0	0.001984	0	0
S1PR4	8698	broad.mit.edu	37	19	3179830	3179830	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3179830G>A	uc002lxg.3	+	0	1095	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	347					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCTCACTCCGGAGCTTCCACC	0.692000														42			32		0	0	0.003755	0	0
SOS2	6655	broad.mit.edu	37	14	50641269	50641269	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:50641269G>A	uc001wxs.4	-	8	1068	c.970_splice	c.e8-1	p.S324_splice	SOS2_uc010tql.2_Intron|SOS2_uc001wxt.2_Splice_Site_p.S12_splice	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	324	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATCAGCAATGGACTGCAAAGC	0.403000														8			3		0	0	0.004672	0	0
ACSM1	116285	broad.mit.edu	37	16	20702395	20702395	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:20702395C>T	uc002dhm.1	-	0	184	c.116G>A	c.(115-117)aGa>aAa	p.R39K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.R39K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	39					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATTCCATCTTGGGGCTCC	0.507000														82			42		0	0	0.002522	0	0
DLG1	1739	broad.mit.edu	37	3	196771564	196771564	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:196771564T>C	uc010ial.3	-	25	2904	c.2645A>G	c.(2644-2646)aAc>aGc	p.N882S	DLG1_uc011bub.2_Missense_Mutation_p.N778S|DLG1_uc011buc.2_Missense_Mutation_p.N766S|DLG1_uc011bud.2_Missense_Mutation_p.N565S|DLG1_uc003fxo.4_Missense_Mutation_p.N882S|DLG1_uc003fxn.4_Missense_Mutation_p.N904S|DLG1_uc011bue.2_Missense_Mutation_p.N870S	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	882	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTCACTTGGTTGTAAATGTC	0.348000														32			11		0	0	0.000978	0	0
JPH2	57158	broad.mit.edu	37	20	42788484	42788484	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:42788484C>T	uc002xli.1	-	1	1816	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	315					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACTCGCCCTCGTAGCGGAGG	0.657000														14			13		0	0	0.001855	0	0
INSRR	3645	broad.mit.edu	37	1	156814327	156814327	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156814327G>A	uc010pht.2	-	13	2963	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	888	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.S887C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTAACCCTGGCAGAGTAGT	0.572000														32			16		0	0	0.004007	0	0
WWC2	80014	broad.mit.edu	37	4	184233602	184233602	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:184233602C>T	uc010irx.3	+	21	3675	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	WWC2_uc003ivk.4_Missense_Mutation_p.R960W|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.R847W|WWC2_uc003ivn.4_Missense_Mutation_p.R680W|WWC2_uc010irz.3_Missense_Mutation_p.R506W|WWC2_uc003ivo.4_Missense_Mutation_p.R293W	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1165										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAAGGTGCCTCGGCAGGTGCA	0.547000														42			9		0	0	0.006214	0	0
CILP	8483	broad.mit.edu	37	15	65490953	65490953	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65490953G>A	uc002aon.2	-	8	1852	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	557					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTTCTTGTTGAAAGGTAGCA	0.527000														22			17		0	0	0.004990	0	0
FAM83B	222584	broad.mit.edu	37	6	54805524	54805524	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:54805524G>A	uc003pck.3	+	4	1871	c.1755G>A	c.(1753-1755)acG>acA	p.T585T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	585										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACACCCCTACGAATGTACAGC	0.463000														19			23		0	0	0.003954	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208865975	208865975	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:208865975G>A	uc002vcl.2	-	1	879	c.389C>T	c.(388-390)cCt>cTt	p.P130L	PLEKHM3_uc002vcm.2_Missense_Mutation_p.P130L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	130					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACAGAACGAGGCCGGTCCCT	0.483000														32			20		0	0	0.002780	0	0
PTX4	390667	broad.mit.edu	37	16	1537825	1537825	+	Silent	SNP	C	T	T	rs142629286	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1537825C>T	uc010uvf.2	-	1	273	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	96						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCCCTGCACCGAGGCCTGTG	0.662000														58			31		0	0	0.002096	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721182	50721182	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50721182T>G	uc003bkv.4	-	17	3038	c.2945A>C	c.(2944-2946)aAc>aCc	p.N982T	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	982					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTACGGGGTTTTCGCGGTA	0.677000														16			5		0	0	0.001984	0	0
C15orf33	196951	broad.mit.edu	37	15	49833904	49833904	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:49833904C>T	uc001zxl.2	-	9	1141	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	C15orf33_uc001zxm.3_Missense_Mutation_p.G249R	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	283										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		ATGTTATTCCCTAGATCTTCT	0.299000														39			23		0	0	0.002299	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884543	228884543	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:228884543C>T	uc002vpq.2	-	6	1074	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D343N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D343N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	343						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAATAAGCATCTTTTGGAATA	0.413000														49			31		0	0	0.008361	0	0
KCNK10	54207	broad.mit.edu	37	14	88729835	88729835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:88729835G>A	uc001xwm.3	-	1	235	c.113C>T	c.(112-114)cCg>cTg	p.P38L	KCNK10_uc001xwn.3_Missense_Mutation_p.P38L|KCNK10_uc001xwo.3_Missense_Mutation_p.P33L	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	33					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGCCGGAGCCGGGGGTTGCCC	0.647000														35			36		0	0	0.007835	0	0
OR4N5	390437	broad.mit.edu	37	14	20612308	20612308	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20612308T>C	uc010tla.2	+	0	414	c.414T>C	c.(412-414)ccT>ccC	p.P138P		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCATGAACCCTAGAGCCTGCT	0.498000														88			22		0	0	0.003330	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821451	26821451	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26821451G>A	uc010wan.2	+	8	1443	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	SLC13A2_uc010wam.2_Nonsense_Mutation_p.W366*|SLC13A2_uc002hbh.3_Nonsense_Mutation_p.W410*|SLC13A2_uc010wao.2_Nonsense_Mutation_p.W367*|SLC13A2_uc002hbi.3_Nonsense_Mutation_p.W339*	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	410						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTCCTCGACTGGAAGACGGTG	0.577000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			26		0	0	0.007291	0	0
ADCY7	113	broad.mit.edu	37	16	50325658	50325658	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:50325658C>T	uc002egd.1	+	2	655	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADCY7_uc002egb.1_Silent_p.F129F|ADCY7_uc002egc.2_Silent_p.F129F	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGCCCTTCTTCCTGTTCATTG	0.657000														17			6		0	0	0.003080	0	0
TAF1L	138474	broad.mit.edu	37	9	32630672	32630672	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:32630672C>T	uc003zrg.1	-	0	4996	c.4906G>A	c.(4906-4908)Gat>Aat	p.D1636N	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1636					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTACAAATATCCTTCTCAAGT	0.448000														13			41		0	0	0.006999	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22354546	22354546	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:22354546G>A	uc001rfo.4	-	4	1493	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ST8SIA1_uc009zix.3_Silent_p.I194I	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	337					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.I337I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGTGCACCGATTTTATGAA	0.483000														51			42		0	0	0.002222	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001489	149001489	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:149001489C>T	uc003lra.1	+	8	1263	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	400	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCACTCAACTCGCTGCTAGTG	0.587000														28			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9067834	9067834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9067834G>A	uc002mkp.3	-	2	19816	c.19612C>T	c.(19612-19614)Cct>Tct	p.P6538S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6540	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						AGATGAACAGGAGAAGACGGC	0.502000														15			5		0	0	0.000602	0	0
KIAA1468	57614	broad.mit.edu	37	18	59947636	59947636	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:59947636T>C	uc002lil.3	+	22	3226	c.3011T>C	c.(3010-3012)gTt>gCt	p.V1004A	KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1004							binding	p.R1003L(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GACAAGCGGGTTGCTCCGGCC	0.443000														26			32		0	0	0.005524	0	0
PAPPA	5069	broad.mit.edu	37	9	118969825	118969825	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:118969825G>A	uc004bjn.3	+	2	1950	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	PAPPA_uc011lxp.1_Silent_p.E316E|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	523	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTCAGAGGAGGAGTTGGCAG	0.443000														14			24		0	0	0.003330	0	0
DUPD1	338599	broad.mit.edu	37	10	76797702	76797702	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:76797702C>T	uc001jwq.1	-	2	555	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	185	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCCCCGGTTCGGGAGGACGC	0.652000														14			20		0	0	0.002299	0	0
HAND2	9464	broad.mit.edu	37	4	174449922	174449922	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:174449922C>T	uc003itg.1	-	1	505	c.415G>A	c.(415-417)Gac>Aac	p.D139N	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Silent_p.K173K			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	0	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TCACGTCGGTCTTCTTGATCT	0.642000														15			15		0	0	0.002450	0	0
CDH8	1006	broad.mit.edu	37	16	61687629	61687629	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:61687629G>A	uc002eog.2	-	11	3238	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	761					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGACTCCAAGGAGCTGAGGG	0.537000														4			8		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	14	106733275	106733275	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106733275C>T	uc021ser.1	-	876		c.21271G>A								Parts of antibodies, mostly variable regions.																		GTTTCACCATCTTCAGGATCA	0.522000														86			22		0	0	0.003330	0	0
ATP1A4	480	broad.mit.edu	37	1	160136852	160136852	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:160136852C>T	uc001fve.4	+	8	1820	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	447					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCAGGAGATCCTGCCCATTG	0.527000														52			16		0	0	0.004990	0	0
SEC23B	10483	broad.mit.edu	37	20	18496297	18496297	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:18496297C>T	uc002wra.2	+	3	744	c.283C>T	c.(283-285)Cct>Tct	p.P95S	SEC23B_uc010zsb.2_Missense_Mutation_p.P95S|SEC23B_uc002wrb.2_Missense_Mutation_p.P95S|SEC23B_uc002wqz.2_Missense_Mutation_p.P95S|SEC23B_uc002wrc.2_Missense_Mutation_p.P95S	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	95					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTTTCAGTTTCCTCCAGCTTA	0.373000														41			4		0	0	0.000602	0	0
ZEB1	6935	broad.mit.edu	37	10	31809203	31809203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:31809203C>T	uc001ivs.4	+	6	1003	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S	ZEB1_uc001ivr.4_Missense_Mutation_p.P96S|ZEB1_uc010qef.2_Missense_Mutation_p.P96S|ZEB1_uc009xlj.1_Missense_Mutation_p.P240S|ZEB1_uc010qeg.1_Missense_Mutation_p.P173S|ZEB1_uc009xlk.1_Missense_Mutation_p.P96S|ZEB1_uc001ivu.4_Missense_Mutation_p.P315S|ZEB1_uc010qeh.2_Missense_Mutation_p.P247S|ZEB1_uc001ivv.4_Missense_Mutation_p.P294S|ZEB1_uc001ivt.4_Missense_Mutation_p.P96S|ZEB1_uc009xlo.2_Missense_Mutation_p.P297S|ZEB1_uc009xlp.3_Missense_Mutation_p.P298S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	314					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGTTCTTCACCGTCTCTTTC	0.438000														18			23		0	0	0.003330	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144631	55144631	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:55144631A>T	uc003han.4	+	14	2436	c.2105A>T	c.(2104-2106)aAg>aTg	p.K702M	PDGFRA_uc003haa.3_Missense_Mutation_p.K462M|PDGFRA_uc010igq.1_Missense_Mutation_p.K596M|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.K81M	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	702	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGAAGCCAAAGAAAGAGCTG	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				24			13		0	0	0.002450	0	0
LIX1L	128077	broad.mit.edu	37	1	145498555	145498555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:145498555C>T	uc001enr.3	+	5	865	c.791C>T	c.(790-792)tCg>tTg	p.S264L	AK123675_uc021ouz.1_5'Flank	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Homo sapiens Lix1 homolog (mouse)-like (LIX1L), mRNA.	264										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTCATTATTCGCACCGGGCC	0.537000														62			16		0	0	0.004990	0	0
STAC3	246329	broad.mit.edu	37	12	57642489	57642489	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:57642489G>A	uc001snp.2	-	4	634	c.432_splice	c.e4+1	p.I144_splice	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Splice_Site_p.I105_splice|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	144					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GCCTACTCACGATCTTGCCGA	0.537000														150			141		0	0	0.003610	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845150	65845150	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:65845150G>A	uc001dce.1	+	4	810	c.609G>A	c.(607-609)cgG>cgA	p.R203R	DNAJC6_uc001dcc.1_Silent_p.R177R|DNAJC6_uc001dcd.1_Silent_p.R146R|DNAJC6_uc010opc.1_Silent_p.R133R	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	146	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTGTGTGTCGGAATATGTATA	0.463000														36			30		0	0	0.002445	0	0
GPR78	27201	broad.mit.edu	37	4	8589044	8589044	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:8589044G>A	uc003glk.3	+	2	1539	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	349					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACCCACAACGGCTCTGTGGAC	0.632000														12			15		0	0	0.001523	0	0
C2orf54	79919	broad.mit.edu	37	2	241831030	241831031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:241831030_241831031CC>TT	uc002wae.4	-	1	823_824	c.664_665GG>AA	c.(664-666)gga>AAa	p.G222K	C2orf54_uc002wac.3_Missense_Mutation_p.G54K|C2orf54_uc002wad.3_Missense_Mutation_p.G73K	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	222										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTCAGGGAATCCGGGCATCTGC	0.658000														39			32		0	0	0.004672	0	0
GAGE10	643832	broad.mit.edu	37	X	49161411	49161411	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:49161411C>T	uc010nir.1	+	1	189	c.73C>T	c.(73-75)Cct>Tct	p.P25S		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	Homo sapiens G antigen 10 (GAGE10), mRNA.	25										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AATGATTGGGCCTATGCTGGT	0.398000														168			35		0	0	0.006230	0	0
ARID1A	8289	broad.mit.edu	37	1	27094349	27094349	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:27094349G>A	uc001bmv.1	+	10	3430	c.3057G>A	c.(3055-3057)gaG>gaA	p.E1019E	ARID1A_uc001bmt.1_Silent_p.E1019E|ARID1A_uc001bmu.1_Silent_p.E1019E|ARID1A_uc001bmw.1_Silent_p.E636E	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1019	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGAGCCTGAGAGGAAGATGT	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									36			29		0	0	0.007291	0	0
DCC	1630	broad.mit.edu	37	18	50731608	50731608	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:50731608A>T	uc002lfe.2	+	9	2212	c.1596A>T	c.(1594-1596)gaA>gaT	p.E532D	DCC_uc010xdr.1_Missense_Mutation_p.E380D|DCC_uc010dpf.2_Missense_Mutation_p.E187D	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	532	Fibronectin type-III 2.				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)		GGCCAGTAGAAAACCTGCAAG	0.388000														107			12		0	0	0.000978	0	0
MYH1	4619	broad.mit.edu	37	17	10399732	10399732	+	Silent	SNP	G	A	A	rs138249334		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10399732G>A	uc002gmo.3	-	33	4885	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1597						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TGGACTCCACGATTCTAATGT	0.443000														88			42		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9071324	9071324	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9071324C>T	uc002mkp.3	-	2	16326	c.16122G>A	c.(16120-16122)gtG>gtA	p.V5374V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5376	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						CTGTGGTTGTCACCAGAACAG	0.517000														76			47		0	0	0.002852	0	0
ODF3	113746	broad.mit.edu	37	11	198577	198577	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:198577C>T	uc001lob.3	+	4	820	c.526C>T	c.(526-528)Cta>Tta	p.L176L	ODF3_uc010qvk.2_Silent_p.L176L|ODF3_uc001loc.3_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	176					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCGACGACCTACACAAGGC	0.627000														22			15		0	0	0.006122	0	0
XIRP1	165904	broad.mit.edu	37	3	39228619	39228619	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:39228619C>T	uc003cjk.2	-	1	2547	c.2318G>A	c.(2317-2319)gGg>gAg	p.G773E	XIRP1_uc003cji.3_Missense_Mutation_p.G773E|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.G773E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	773							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCGCAGGGTCCCCTCAGCTGC	0.627000														16			20		0	0	0.002299	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884007	19884007	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19884007A>T	uc010vav.2	-	1	470	c.239T>A	c.(238-240)aTc>aAc	p.I80N	GPRC5B_uc021tef.1_Missense_Mutation_p.I46N|GPRC5B_uc002dgt.3_Missense_Mutation_p.I54N	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	54								p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AATGCCCCAGATGGCGTCCAG	0.642000														20			11		0	0	0.001855	0	0
LGR5	8549	broad.mit.edu	37	12	71978369	71978369	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:71978369A>C	uc001swl.3	+	17	2627	c.2579A>C	c.(2578-2580)cAg>cCg	p.Q860P	LGR5_uc001swm.3_Missense_Mutation_p.Q836P|LGR5_uc021rar.1_Missense_Mutation_p.Q788P|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	860						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCGAAAAACAGTCCTGTGAC	0.468000														187			172		0	0	0.003610	0	0
ZNF446	55663	broad.mit.edu	37	19	58991763	58991763	+	Silent	SNP	C	T	T	rs138401322		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58991763C>T	uc002qsz.3	+	6	1140	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ZNF446_uc002qta.3_Missense_Mutation_p.S313L|ZNF446_uc010eur.3_3'UTR|SLC27A5_uc002qtb.3_Non-coding_Transcript	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	341					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCGCGGCTTCGACTGGAAGT	0.662000														11			8		0	0	0.003080	0	0
TOX2	84969	broad.mit.edu	37	20	42682962	42682962	+	Silent	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:42682962A>C	uc010ggo.3	+	4	715	c.675A>C	c.(673-675)tcA>tcC	p.S225S	TOX2_uc002xle.4_Silent_p.S183S|TOX2_uc010ggp.3_Silent_p.S183S|TOX2_uc002xlf.4_Silent_p.S234S|TOX2_uc010zwk.2_Silent_p.S103S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGAGACCTTCAGCCGACCCAG	0.537000														3			7		0	0	0.006214	0	0
KIF5B	3799	broad.mit.edu	37	10	32327101	32327101	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:32327101G>A	uc001iwe.4	-	5	958	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	163	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTTTACATAGGGAACTCGGTT	0.363000			T	"""RET, ALK"""	NSCLC									20			14		0	0	0.001855	0	0
PLG	5340	broad.mit.edu	37	6	161135945	161135945	+	Splice_Site	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:161135945A>T	uc003qtm.4	+	6	780	c.668_splice	c.e6+1	p.K223_splice		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	223	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CATTCCTTCCAAGTAAGTCTC	0.433000														7			8		0	0	0.003080	0	0
GLRA3	8001	broad.mit.edu	37	4	175598368	175598368	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:175598368G>A	uc003ity.1	-	6	1291	c.788C>T	c.(787-789)cCc>cTc	p.P263L	GLRA3_uc003itz.1_Missense_Mutation_p.P263L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	263					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CAGGAGACTGGGAATGTACAT	0.453000														6			9		0	0	0.004482	0	0
ESRRB	2103	broad.mit.edu	37	14	76948420	76948420	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:76948420G>C	uc001xsr.3	+	5	947	c.576G>C	c.(574-576)gaG>gaC	p.E192D	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.E192D	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGGACTCAGAGAGCAGCCCAT	0.532000														7			10		0	0	0.001368	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394726	233394726	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:233394726G>A	uc001hvl.2	-	4	1117	c.882C>T	c.(880-882)tcC>tcT	p.S294S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	294						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTCCCTTATGGAGCCCCGGG	0.547000														71			29		0	0	0.008361	0	0
COL6A6	131873	broad.mit.edu	37	3	130381038	130381038	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:130381038G>A	uc010htl.3	+	33	6419	c.6388G>A	c.(6388-6390)Gag>Aag	p.E2130K	COL6A6_uc003eni.4_Missense_Mutation_p.E229K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2130	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAAGGAACTGGAGGATCTCGC	0.468000														39			52		0	0	0.003610	0	0
GAB3	139716	broad.mit.edu	37	X	153944592	153944592	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153944592G>A	uc004fmk.1	-	1	133	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	GAB3_uc004fmj.1_Missense_Mutation_p.R29C|GAB3_uc010nve.1_Missense_Mutation_p.R29C|GAB3_uc004fml.1_5'UTR	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	29	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAAACCAGCGCTTGCGCCAG	0.537000														22			9		0	0	0.006214	0	0
Mir_422	0	broad.mit.edu	37	15	64163218	64163218	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:64163218C>T	uc021sov.1	-	1		c.1_splice	c.e1-1							Rfam model RF01030 hit found at contig region AC015914.8/92261-92350																		gtgcttctctcgtgtcctcac	0.527000														38			18		0	0	0.008871	0	0
DNAH2	146754	broad.mit.edu	37	17	7674161	7674161	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:7674161G>A	uc002giu.1	+	25	4286	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1424	Stem (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)				CCTTTGAGAAGGATGTGGACC	0.493000														73			34		0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77776234C>T	uc003yau.2	+	10	10671	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)				8			8		0	0	0.004482	0	0
METTL17	64745	broad.mit.edu	37	14	21465017	21465017	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21465017C>T	uc001vyo.3	+	12	1609	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	METTL17_uc001vym.3_Missense_Mutation_p.P438S|METTL17_uc001vyn.3_Missense_Mutation_p.P447S|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGCGTTTCCTCCATCTACGGC	0.527000														14			18		0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13829721	13829721	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13829721G>A	uc003jfd.2	-	37	6384	c.6342C>T	c.(6340-6342)atC>atT	p.I2114I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2114	AAA 1 (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)					TCACCCTTATGATAATCTGAC	0.473000									Kartagener syndrome					38			20		0	0	0.002780	0	0
MYH4	4622	broad.mit.edu	37	17	10362607	10362607	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10362607G>A	uc002gmn.3	-	14	1659	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	516	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGTCCATCCCGAAGTCAATGA	0.473000														56			26		0	0	0.008361	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025151	16025151	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:16025151G>A	uc002nbu.2	-	11	1397	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	CYP4F11_uc010eab.1_Silent_p.V432V|CYP4F11_uc002nbt.2_Missense_Mutation_p.S454L	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	454					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AGCCAGAGGTGACCTCTCCTT	0.577000														88			50		0	0	0.003610	0	0
RHOF	54509	broad.mit.edu	37	12	122219098	122219099	+	Splice_Site	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:122219098_122219099CC>TT	uc001ubb.3	-	3	282	c.227_splice	c.e3-1	p.G76_splice	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.4_Splice_Site_p.G76_splice	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	76					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GTCTTCTTGCCCTGAAAGCACA	0.619000														8			16		0	0	0.004672	0	0
THSD7A	221981	broad.mit.edu	37	7	11445927	11445927	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:11445927C>T	uc021zzo.1	-	22	4489	c.4237_splice	c.e22+1	p.G1413_splice	THSD7A_uc021zzn.1_Splice_Site_p.G1411_splice	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1413						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCGTTGTTACCTGGGCAAGGC	0.418000										HNSCC(18;0.044)				54			44		0	0	0.003610	0	0
SIX2	10736	broad.mit.edu	37	2	45233327	45233327	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:45233327G>A	uc002ruo.3	-	1	1151	c.858C>T	c.(856-858)ctC>ctT	p.L286L		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	286						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCAGGTCCACGAGGTTGGCTG	0.647000														47			26		0	0	0.008361	0	0
COL4A5	1287	broad.mit.edu	37	X	107846276	107846276	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:107846276C>T	uc022ccg.1	+	27	2431	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G	COL4A5_uc004enz.1_Silent_p.G743G|COL4A5_uc004eob.1_Silent_p.G351G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	743	Triple-helical region.		G -> D (in APSX).		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						GGCCACCCGGCTTTCCAGGAC	0.458000									Alport syndrome with Diffuse Leiomyomatosis					4			3		0	0	0.000248	0	0
ODZ4	26011	broad.mit.edu	37	11	78369576	78369576	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:78369576C>T	uc001ozl.4	-	33	8300	c.7837G>A	c.(7837-7839)Ggg>Agg	p.G2613R	ODZ4_uc001ozk.4_Missense_Mutation_p.G838R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2613					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTATCCACCCCATCAATGGTG	0.557000														8			15		0	0	0.004990	0	0
DUSP27	92235	broad.mit.edu	37	1	167096701	167096701	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:167096701C>T	uc001geb.1	+	4	2349	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	778					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAGCTCCTCCTTGGGTGGC	0.592000														30			17		0	0	0.006122	0	0
KIF16B	55614	broad.mit.edu	37	20	16360169	16360169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:16360169G>A	uc002wpg.2	-	18	2637	c.2478C>T	c.(2476-2478)ttC>ttT	p.F826F	KIF16B_uc002wpe.1_Silent_p.F208F|KIF16B_uc002wpf.1_Silent_p.F208F|KIF16B_uc010gch.2_Silent_p.F826F|KIF16B_uc010gci.2_Silent_p.F826F|KIF16B_uc010gcj.2_Silent_p.F837F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	826	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTGAATTCGAAGAAACGCA	0.507000														41			12		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179595317	179595317	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179595317C>T	uc021vsy.1	-	57	14436	c.14211G>A	c.(14209-14211)ctG>ctA	p.L4737L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1398L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5664	Ig-like 27.						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)			CTGTACCTTCCAGCTGGCTGA	0.423000														55			49		0	0	0.003610	0	0
SYNM	23336	broad.mit.edu	37	15	99671130	99671130	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:99671130C>T	uc002bup.3	+	4	2682	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	SYNM_uc002buo.3_Silent_p.I854I|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	855	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGATCCACATCGAGGAGGAAT	0.567000														13			21		0	0	0.008871	0	0
APOB	338	broad.mit.edu	37	2	21229114	21229114	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:21229114C>A	uc002red.3	-	25	10754	c.10626G>T	c.(10624-10626)tgG>tgT	p.W3542C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3542					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCAAGGTTCCAGATATCAT	0.448000														321			161		1.52386e-66	1.83109e-66	0.003610	1	0
FAT4	79633	broad.mit.edu	37	4	126369722	126369722	+	Silent	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126369722A>T	uc003ifj.4	+	8	7551	c.7551A>T	c.(7549-7551)ccA>ccT	p.P2517P	FAT4_uc011cgp.2_Silent_p.P815P|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2517	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATTGACCCACTGAGGGGAG	0.428000														27			16		0	0	0.003163	0	0
MYH13	8735	broad.mit.edu	37	17	10258071	10258071	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10258071C>T	uc002gmk.1	-	10	1021	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	311	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.D311N(6)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGGGGAAGTCGAAGGGGTTG	0.458000														39			21		0	0	0.002299	0	0
SPTLC1	10558	broad.mit.edu	37	9	94821582	94821582	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:94821582G>A	uc011ltv.1	-	6	607	c.569C>T	c.(568-570)gCt>gTt	p.A190V	SPTLC1_uc004arl.1_Missense_Mutation_p.A190V|SPTLC1_uc004arm.1_Missense_Mutation_p.A190V			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	190						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAAGCAGGCAGCTCTATCTCT	0.403000														38			14		0	0	0.003163	0	0
COL4A1	1282	broad.mit.edu	37	13	110826973	110826973	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:110826973G>A	uc001vqw.4	-	37	3444	c.3322C>T	c.(3322-3324)Cca>Tca	p.P1108S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1108	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CACCTACCTGGATAGCCAACA	0.502000														30			12		0	0	0.001368	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:3443759G>A	uc022aqr.1	-	8	1511	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000														11			4		0	0	0.000602	0	0
DUSP16	80824	broad.mit.edu	37	12	12630159	12630159	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:12630159G>A	uc001rao.2	-	6	2369	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	DUSP16_uc001ran.2_Missense_Mutation_p.L388F	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	536					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CAGCCCTTAAGGCCCAGGCCA	0.577000														31			31		0	0	0.002096	0	0
SCNN1G	6340	broad.mit.edu	37	16	23205492	23205492	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:23205492G>A	uc002dlm.1	+	5	949	c.810_splice	c.e5-1	p.R270_splice		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	270					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCATAGGAATTTCACGC	0.493000														49			23		0	0	0.002299	0	0
NCOR1	9611	broad.mit.edu	37	17	15965136	15965136	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:15965136G>A	uc002gpo.3	-	36	5729	c.5460C>T	c.(5458-5460)gcC>gcT	p.A1820A	NCOR1_uc002gpn.3_Silent_p.A1836A|NCOR1_uc002gpm.3_Silent_p.A340A|NCOR1_uc010vwb.2_Silent_p.A404A|NCOR1_uc010coy.3_Silent_p.A728A|NCOR1_uc010vwc.2_Silent_p.A630A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1820	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCAGCCAGGGCATCCGCAG	0.517000														27			16		0	0	0.004990	0	0
FBXL2	25827	broad.mit.edu	37	3	33400823	33400823	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:33400823C>T	uc003cfp.3	+	3	240	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Intron|FBXL2_uc021wuy.1_Missense_Mutation_p.L57F|FBXL2_uc011axo.2_5'UTR|FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	57					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGAATAGATCTTTTTAACTT	0.378000														13			11		0	0	0.001368	0	0
GRM1	2911	broad.mit.edu	37	6	146480714	146480714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:146480714G>A	uc010khw.1	+	2	1401	c.931G>A	c.(931-933)Gag>Aag	p.E311K	GRM1_uc010khu.1_Missense_Mutation_p.E311K|GRM1_uc010khv.1_Missense_Mutation_p.E311K|GRM1_uc003qll.2_Missense_Mutation_p.E311K|GRM1_uc011edz.1_Missense_Mutation_p.E311K|GRM1_uc011eea.1_Missense_Mutation_p.E311K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	311					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTCGTGGGCGAGTTCTCACT	0.542000														9			12		0	0	0.001855	0	0
NOX5	79400	broad.mit.edu	37	15	69335023	69335023	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:69335023C>T	uc002ars.2	+	9	1566	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.R463W|NOX5_uc002arp.2_Missense_Mutation_p.R491W|NOX5_uc010bid.2_Missense_Mutation_p.R474W|NOX5_uc010bie.2_Missense_Mutation_p.R309W|NOX5_uc002arr.2_Missense_Mutation_p.R481W|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	509	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTGCACATTCGGTCCCAAGG	0.567000														20			16		0	0	0.004007	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782558	115782558	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115782558G>A	uc003krx.4	-	19	3604	c.2895C>T	c.(2893-2895)tcC>tcT	p.S965S	SEMA6A_uc010jck.3_Silent_p.S948S|SEMA6A_uc011cwe.2_Silent_p.S327S|SEMA6A_uc003krv.4_Silent_p.S375S|SEMA6A_uc003krw.4_Silent_p.S425S|SEMA6A_uc010jcj.3_Silent_p.S492S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	948					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGGTTTCTGGAGAGGTGAG	0.592000														23			21		0	0	0.001882	0	0
FAM176A	84141	broad.mit.edu	37	2	75720659	75720659	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:75720659C>T	uc002sni.2	-	3	640	c.162G>A	c.(160-162)gtG>gtA	p.V54V	FAM176A_uc002snj.1_Silent_p.V41V|FAM176A_uc002snk.1_Silent_p.V54V	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	54	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						AGATCCTTATCACCAGAGCAG	0.577000														23			10		0	0	0.008291	0	0
DECR1	1666	broad.mit.edu	37	8	91029432	91029432	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:91029432G>A	uc003yek.1	+	1	291	c.150G>A	c.(148-150)gcG>gcA	p.A50A	DECR1_uc011lgc.1_Silent_p.A41A|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	50					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	p.A50A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCAAAAAGCGATGCTACCAC	0.378000														22			6		0	0	0.001168	0	0
CHD8	57680	broad.mit.edu	37	14	21860739	21860739	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21860739C>A	uc001war.2	-	32	6763	c.6698G>T	c.(6697-6699)aGc>aTc	p.S2233I	CHD8_uc001was.2_Missense_Mutation_p.S1954I|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2233					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCCGCTGTGCTGACTGCAGA	0.507000														73			27		1.88708e-17	2.26194e-17	0.008361	1	0
DYX1C1	161582	broad.mit.edu	37	15	55783387	55783387	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:55783387T>C	uc002adc.3	-	3	707	c.339A>G	c.(337-339)gaA>gaG	p.E113E	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.E113E|DYX1C1_uc002add.3_Silent_p.E113E	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	113					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTCTGTAGCTTCTTTTGCTC	0.358000														29			22		0	0	0.001523	0	0
OR7D4	125958	broad.mit.edu	37	19	9325175	9325175	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9325175G>A	uc002mla.2	-	0	373	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CGGCCAGTAGGAAAGTATCCA	0.527000														25			17		0	0	0.004990	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697006	153697006	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153697006G>A	uc004flm.3	+	24	4394	c.4221_splice	c.e24-1	p.R1407_splice		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1407					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGCCCTAGGACAGAGTCAG	0.632000														46			18		0	0	0.004990	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763378	92763378	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:92763378G>A	uc003umh.1	-	4	3123	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	SAMD9L_uc003umj.1_Missense_Mutation_p.P636L|SAMD9L_uc003umi.1_Missense_Mutation_p.P636L|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636L|SAMD9L_uc003umk.1_Missense_Mutation_p.P636L|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636L|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636L|SAMD9L_uc022ahh.1_Missense_Mutation_p.P636L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	636								p.P636P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCCACGGGCGGGCAAAAACCT	0.403000														54			24		0	0	0.004656	0	0
OR6C2	341416	broad.mit.edu	37	12	55846720	55846720	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55846720C>T	uc001sgz.1	+	0	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTGTTCATCCCACATGATTG	0.418000														30			21		0	0	0.008871	0	0
AQPEP	206338	broad.mit.edu	37	5	115348125	115348125	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115348125C>T	uc003kro.3	+	14	2466	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	768					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTATAATTCGTGAAAATGT	0.289000														41			15		0	0	0.004007	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719037	50719037	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50719037G>A	uc003bkv.4	-	24	4149	c.4056C>T	c.(4054-4056)tcC>tcT	p.S1352S	PLXNB2_uc003bkt.1_Silent_p.S144S|PLXNB2_uc003bku.1_Silent_p.S337S	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1352					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCAGCAGGGACGCGAAGT	0.642000														40			22		0	0	0.002299	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954519	79954519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:79954519C>T	uc002kcy.3	+	6	827	c.730C>T	c.(730-732)Cct>Tct	p.P244S	ASPSCR1_uc002kcx.3_Missense_Mutation_p.P244S|ASPSCR1_uc021ufj.1_Missense_Mutation_p.P167S|ASPSCR1_uc002kda.3_Missense_Mutation_p.P167S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.P167S	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	244							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCCTTTGTTCCTTTCTCGGG	0.652000			T	TFE3	alveolar soft part sarcoma									12			20		0	0	0.001523	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870578	51870578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:51870578C>T	uc002xwo.3	+	1	1468	c.581C>T	c.(580-582)tCg>tTg	p.S194L	TSHZ2_uc021wex.1_Missense_Mutation_p.S191L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	194					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S193N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGTTCAGCTCGGTGCAGTTG	0.562000														16			28		0	0	0.006320	0	0
TRPC3	7222	broad.mit.edu	37	4	122835950	122835950	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:122835950G>A	uc003ieg.2	-	3	1400	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Silent_p.I369I|TRPC3_uc011cgl.1_Silent_p.I106I	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	357					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCAAGGTGCGATCCAGTAGC	0.483000														6			7		0	0	0.003080	0	0
PDHA2	5161	broad.mit.edu	37	4	96762199	96762199	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:96762199C>T	uc003htr.4	+	0	961	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	300					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R300C(2)|p.R300L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGTCAGTTATCGTACACGAGA	0.433000														21			7		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9049823	9049823	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9049823G>A	uc002mkp.3	-	4	32012	c.31808C>T	c.(31807-31809)cCt>cTt	p.P10603L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10605	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						GGTCTCTGCAGGATGGATAAC	0.478000														40			23		0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13841876	13841876	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13841876C>T	uc003jfd.2	-	32	5451	c.5409G>A	c.(5407-5409)gtG>gtA	p.V1803V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1803	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)					CCTGGCGAATCACAAGATGCA	0.413000									Kartagener syndrome					20			17		0	0	0.004007	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804628	113804628	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:113804628C>T	uc003eaz.3	+	8	1247	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	QTRTD1_uc003eay.3_Silent_p.A375A|QTRTD1_uc011biq.2_Silent_p.A252A|QTRTD1_uc011bir.2_Silent_p.A269A	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	375					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						AGCTGCTGGCCGGAGTCCTGC	0.478000														58			13		0	0	0.001855	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:55890037C>T	uc001nii.1	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000														42			63		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41446981	41446981	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:41446981C>T	uc002yyq.1	-	26	5323	c.4871G>A	c.(4870-4872)aGg>aAg	p.R1624K	DSCAM_uc002yyr.1_Splice_Site	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1624					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTCTTTAGCCTCTGCTCCCG	0.617000														17			3		0	0	0.004672	0	0
CCDC61	729440	broad.mit.edu	37	19	46498687	46498687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:46498687G>A	uc002pdw.3	+	1	85	c.85G>A	c.(85-87)Gag>Aag	p.E29K	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AATCAGAAGCGAGAACGCCGG	0.607000														15			9		0	0	0.002450	0	0
FKBPL	63943	broad.mit.edu	37	6	32096838	32096838	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32096838G>A	uc003nzr.3	-	1	990	c.720C>T	c.(718-720)ctC>ctT	p.L240L	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Silent_p.L240L	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	240					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTAAAGTCAGGAGCAGCCGAA	0.592000														376			119		0	0	0.003610	0	0
CES3	23491	broad.mit.edu	37	16	66997711	66997711	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:66997711G>A	uc002eqt.3	+	3	512	c.433G>A	c.(433-435)Gta>Ata	p.V145I	CES3_uc010cdz.3_Missense_Mutation_p.V145I	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	145						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCAGGTCATGGTATGGGTCCA	0.612000														26			18		0	0	0.008871	0	0
PTGFR	5737	broad.mit.edu	37	1	79002215	79002215	+	Missense_Mutation	SNP	G	A	A	rs151178719		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:79002215G>A	uc001din.3	+	2	1189	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	308					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTCTTCTACGAAAGGCTGTC	0.388000														47			21		0	0	0.001882	0	0
IFT74	80173	broad.mit.edu	37	9	26978177	26978177	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:26978177G>A	uc010mja.3	+	2	299	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	IFT74_uc010mjb.3_Missense_Mutation_p.G58S|IFT74_uc003zqf.4_Missense_Mutation_p.G58S|IFT74_uc003zqg.4_Missense_Mutation_p.G58S	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	58						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CATAGGGACTGGTGGAGTTCT	0.423000														3			24		0	0	0.002299	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407132	148407132	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:148407132G>A	uc003lpu.3	-	10	2315	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.L365L|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.L268L|SH3TC2_uc010jgx.3_Silent_p.L714L|SH3TC2_uc003lpv.1_Silent_p.L268L|SH3TC2_uc011dbz.1_Silent_p.L606L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	721							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGCCAAGGAGCTTGGTTG	0.572000														38			32		0	0	0.002836	0	0
NBEA	26960	broad.mit.edu	37	13	36223862	36223862	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:36223862T>C	uc021rid.1	+	50	8312	c.7778T>C	c.(7777-7779)tTt>tCt	p.F2593S	NBEA_uc021ric.1_Missense_Mutation_p.F2590S|NBEA_uc010abi.3_Missense_Mutation_p.F1249S|NBEA_uc010tee.1_Missense_Mutation_p.F386S|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.F386S|NBEA_uc001uvd.3_Missense_Mutation_p.F171S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2593						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGCTGAAGTTTCCTTCAAAT	0.488000														71			25		0	0	0.003954	0	0
WDR5B	54554	broad.mit.edu	37	3	122134306	122134306	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:122134306C>T	uc003efa.1	-	0	577	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	Homo sapiens WD repeat domain 5B (WDR5B), mRNA.	24										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TCAGGCACTTCCTTGCTCTGA	0.493000														65			16		0	0	0.004007	0	0
KRT15	3866	broad.mit.edu	37	17	39671910	39671910	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:39671910T>G	uc002hwy.3	-	5	1252	c.1061A>C	c.(1060-1062)gAg>gCg	p.E354A	KRT15_uc002hwz.3_Missense_Mutation_p.E256A|KRT15_uc002hxa.3_Missense_Mutation_p.E189A|KRT15_uc002hxb.1_Missense_Mutation_p.E189A	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	354	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATAGCGGCACTCTGTCTCGGC	0.602000														20			16		0	0	0.008871	0	0
TMX1	81542	broad.mit.edu	37	14	51716235	51716235	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:51716235C>T	uc001wza.4	+	5	664	c.539C>T	c.(538-540)tCa>tTa	p.S180L	TMX1_uc010aoa.3_Missense_Mutation_p.S96L	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA.	180					DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						GTGTGGGGATCATATACTGTT	0.313000														106			33		0	0	0.004289	0	0
PDE7B	27115	broad.mit.edu	37	6	136494966	136494966	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:136494966G>A	uc003qgp.3	+	8	1046	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R300Q	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	248	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CATCACTGGCGATCTACAATT	0.413000														15			13		0	0	0.003163	0	0
MYH11	4629	broad.mit.edu	37	16	15932025	15932025	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:15932025C>T	uc002ddx.3	-	1	192	c.85G>A	c.(85-87)Gac>Aac	p.D29N	MYH11_uc002ddv.3_Missense_Mutation_p.D29N|MYH11_uc002ddw.3_Missense_Mutation_p.D29N|MYH11_uc002ddy.3_Missense_Mutation_p.D29N|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.D29N	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	29	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGGCCCAGTCAGCCTGGGCC	0.582000			T	CBFB	AML									48			31		0	0	0.002096	0	0
COL24A1	255631	broad.mit.edu	37	1	86203099	86203099	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:86203099G>T	uc001dlj.3	-	57	4837	c.4762C>A	c.(4762-4764)Cct>Act	p.P1588T	COL24A1_uc001dli.3_Missense_Mutation_p.P703T|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P888T|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1588	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAACAGGAGGTAAGCATGTC	0.348000														6			5		0.00198382	0.00234462	0.001984	1	0
CETN2	1069	broad.mit.edu	37	X	151997739	151997739	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151997739C>T	uc004fgq.3	-	2	292	c.245G>A	c.(244-246)gGa>gAa	p.G82E	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	82	EF-hand 2.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCATTTTTCCTGTCCCTTC	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)						51			10		0	0	0.000978	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857917	9857917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:9857917C>T	uc010uym.2	-	13	3794	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1162N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D1005N|GRIN2A_uc002czr.4_Missense_Mutation_p.D1162N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1162					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	AGCGTGGAGTCCCCCTTGCGG	0.522000														57			39		0	0	0.005524	0	0
EPHA7	2045	broad.mit.edu	37	6	94120739	94120739	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:94120739G>A	uc003poe.3	-	2	553	c.312C>T	c.(310-312)ttC>ttT	p.F104F	EPHA7_uc003pof.3_Silent_p.F104F|EPHA7_uc011eac.2_Silent_p.F104F|EPHA7_uc003pog.4_Silent_p.F104F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	104						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCCTCAGGGTGAATTTCAATT	0.423000														31			25		0	0	0.003330	0	0
GUCY2C	2984	broad.mit.edu	37	12	14767822	14767822	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:14767822T>C	uc001rcd.3	-	25	3163	c.3026A>G	c.(3025-3027)aAc>aGc	p.N1009S		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1009					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGTTGGCAGGTTGAATTTCTG	0.478000														5			4		0	0	0.001168	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676008	73676008	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:73676008C>T	uc001ouo.3	+	3	1171	c.420C>T	c.(418-420)gtC>gtT	p.V140V		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	140					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACCCCCAAGTCGAACGGGATC	0.527000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			23		0	0	0.002780	0	0
ZNF76	7629	broad.mit.edu	37	6	35259508	35259508	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:35259508C>T	uc003oki.1	+	8	1130	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	ZNF76_uc011dsy.1_Missense_Mutation_p.H309Y|ZNF76_uc011dsz.1_Missense_Mutation_p.H309Y|ZNF76_uc003okj.1_Missense_Mutation_p.H309Y	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	309					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CGTGCGCATCCACACAGGTGG	0.622000														16			10		0	0	0.006214	0	0
UBR1	197131	broad.mit.edu	37	15	43244516	43244516	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:43244516G>A	uc001zqq.3	-	44	5032	c.4966C>T	c.(4966-4968)Cac>Tac	p.H1656Y		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1656					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGAAGTGCGTGAAAAATGCAA	0.468000														69			44		0	0	0.003214	0	0
DHX57	90957	broad.mit.edu	37	2	39050298	39050298	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:39050298A>G	uc002rrf.3	-	16	3227	c.3128T>C	c.(3127-3129)tTa>tCa	p.L1043S	DHX57_uc002rrd.4_Missense_Mutation_p.L427S|DHX57_uc002rre.3_Missense_Mutation_p.L476S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1043							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D1042D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TAATGCTCCTAAGTCTCGTAA	0.453000														41			20		0	0	0.008871	0	0
EYS	346007	broad.mit.edu	37	6	66112428	66112428	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:66112428G>A	uc011dxu.1	-	6	1665	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	EYS_uc003peq.3_Missense_Mutation_p.S376L|EYS_uc003per.1_Missense_Mutation_p.S376L|EYS_uc021zbn.1_Missense_Mutation_p.S376L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	376	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S376L(3)|p.E375D(1)		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						CAAAGGAAATGACTCACATGA	0.284000														19			27		0	0	0.006320	0	0
SYK	6850	broad.mit.edu	37	9	93626931	93626931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:93626931C>T	uc004aqz.3	+	4	983	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	SYK_uc004ara.3_Nonsense_Mutation_p.Q260*|SYK_uc004arb.3_Nonsense_Mutation_p.Q260*|SYK_uc004arc.3_Nonsense_Mutation_p.Q260*|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	260	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGTCCCATGTCAAAAAATCGG	0.398000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									18			18		0	0	0.007413	0	0
ABCA12	26154	broad.mit.edu	37	2	215818600	215818600	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:215818600C>T	uc002vew.3	-	43	6845	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	ABCA12_uc002vev.3_Missense_Mutation_p.E1891K|ABCA12_uc010zjn.2_Missense_Mutation_p.E1136K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2209					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCAGGGATTCGTTGATTAAG	0.348000														12			8		0	0	0.004482	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373908	86373908	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:86373908C>A	uc010sum.2	-	5	827	c.668G>T	c.(667-669)cGt>cTt	p.R223L	MGAT4C_uc001tal.4_Missense_Mutation_p.R199L|MGAT4C_uc001taj.4_Missense_Mutation_p.R199L|MGAT4C_uc001tak.4_Missense_Mutation_p.R199L|MGAT4C_uc001tai.4_Missense_Mutation_p.R199L|MGAT4C_uc001tah.4_Missense_Mutation_p.R199L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338000														41			29		1.77063e-15	2.11974e-15	0.005443	1	0
CDH4	1002	broad.mit.edu	37	20	60503400	60503400	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:60503400C>T	uc002ybn.2	+	11	2012	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	CDH4_uc002ybr.2_Missense_Mutation_p.P605S|CDH4_uc002ybp.2_Missense_Mutation_p.P568S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	642	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACGTCGACCCCAACATCGG	0.652000														37			58		0	0	0.003610	0	0
ATR	545	broad.mit.edu	37	3	142281947	142281947	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:142281947G>A	uc003eux.4	-	3	419	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	99					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAATTACTGAATTCTTTGA	0.313000								Other conserved DNA damage response genes						33			48		0	0	0.003610	0	0
TLR7	51284	broad.mit.edu	37	X	12906353	12906353	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:12906353T>C	uc004cvc.3	+	2	2865	c.2726T>C	c.(2725-2727)tTg>tCg	p.L909S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	909	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GAGTGGGTTTTGGCTGAGCTG	0.463000														43			48		0	0	0.003610	0	0
GABPB2	126626	broad.mit.edu	37	1	151070339	151070339	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:151070339G>T	uc001ewr.2	+	4	814	c.483G>T	c.(481-483)caG>caT	p.Q161H	GABPB2_uc010pcp.1_Missense_Mutation_p.Q177H|GABPB2_uc001ewt.2_Missense_Mutation_p.Q60H	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	161					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAGCAATGCAGAATCAGGTGA	0.413000														35			19		2.32416e-17	2.78412e-17	0.002299	1	0
TAGAP	117289	broad.mit.edu	37	6	159457649	159457649	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:159457649G>A	uc003qrz.3	-	9	1738	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	TAGAP_uc011eft.2_Missense_Mutation_p.S406F|TAGAP_uc003qsa.3_Missense_Mutation_p.S291F	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	469					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGAGCTGTCAGAGGACGCGTC	0.577000														25			43		0	0	0.002222	0	0
HRNR	388697	broad.mit.edu	37	1	152188229	152188229	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152188229C>T	uc001ezt.1	-	2	5952	c.5876G>A	c.(5875-5877)gGg>gAg	p.G1959E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1959					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGACTGCCCAGAACCAGA	0.617000														489			53		0	0	0.003610	0	0
ZNF630	57232	broad.mit.edu	37	X	47919159	47919159	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47919159C>T	uc004div.4	-	4	924	c.672G>A	c.(670-672)aaG>aaA	p.K224K	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.K210K|ZNF630_uc022bvs.1_Silent_p.K224K	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGAAGCCTTCCTTCTCAGGCA	0.398000														30			14		0	0	0.002450	0	0
SPOPL	339745	broad.mit.edu	37	2	139307791	139307791	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:139307791C>T	uc002tvh.3	+	1	405	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	2						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GTGGTGATGTCTCGGGAACCC	0.423000														22			11		0	0	0.002450	0	0
RYR1	6261	broad.mit.edu	37	19	38987054	38987054	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38987054C>T	uc002oit.3	+	40	6799	c.6669C>T	c.(6667-6669)atC>atT	p.I2223I	RYR1_uc002oiu.3_Silent_p.I2223I|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2223	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCAGGAGATCCGCTTCCCCA	0.647000														31			12		0	0	0.001368	0	0
TMEM180	79847	broad.mit.edu	37	10	104232643	104232643	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:104232643C>T	uc001kvt.3	+	6	1080	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TMEM180_uc010qql.2_Silent_p.F16F|TMEM180_uc010qqm.1_Silent_p.F136F	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	287						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAACTTCTTCCCTCTCTTCC	0.562000														51			16		0	0	0.007413	0	0
TTC27	55622	broad.mit.edu	37	2	33002965	33002965	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:33002965C>T	uc002rom.3	+	13	1970	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	TTC27_uc010ymx.2_Missense_Mutation_p.S516F	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	566							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGGTTTTCTCTCGGTTGT	0.403000														18			12		0	0	0.001855	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622217	19622217	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:19622217C>T	uc001umb.1	-	9		c.3594G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TGCCTAGTTTCAACCTCTTTT	0.542000														41			21		0	0	0.002299	0	0
DDX43	55510	broad.mit.edu	37	6	74117749	74117749	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:74117749C>T	uc003pgw.3	+	8	1448	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	368	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GTGTAGATATCATAATTGCAA	0.328000														26			18		0	0	0.008871	0	0
SOGA2	23255	broad.mit.edu	37	18	8825200	8825200	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:8825200C>T	uc002knr.2	+	14	3834	c.3692C>T	c.(3691-3693)cCa>cTa	p.P1231L	SOGA2_uc002knq.2_Missense_Mutation_p.P1190L|SOGA2_uc002kns.2_Missense_Mutation_p.P571L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1541																	GGAGGCCCTCCAGAACCCATG	0.677000														2			10		0	0	0.006214	0	0
POU2F2	5452	broad.mit.edu	37	19	42599549	42599549	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42599549C>T	uc002osp.3	-	10	1082	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	POU2F2_uc002osn.3_Silent_p.V324V|POU2F2_uc002osq.3_Silent_p.V324V|POU2F2_uc002osr.2_Silent_p.V340V	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	340					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGACGCGGATCACTTCCTTCT	0.637000														18			8		0	0	0.003080	0	0
MYH1	4619	broad.mit.edu	37	17	10419317	10419317	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10419317C>T	uc002gmo.3	-	4	525	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	144	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CTTTTTGCCTCGGTAGGCTGT	0.512000														63			51		0	0	0.003610	0	0
CD200R1L	344807	broad.mit.edu	37	3	112538652	112538652	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:112538652C>T	uc003dzi.1	-	4	996	c.770G>A	c.(769-771)gGa>gAa	p.G257E	CD200R1L_uc010hqf.1_Missense_Mutation_p.G236E|CD200R1L_uc011bhw.1_Missense_Mutation_p.G236E	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	257						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GAAAACAAATCCTGTGGTGAC	0.368000														18			19		0	0	0.001882	0	0
MVP	9961	broad.mit.edu	37	16	29841948	29841948	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:29841948C>T	uc002dui.3	+	1	230	c.78C>T	c.(76-78)tcC>tcT	p.S26S	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Silent_p.S26S|MVP_uc010vea.2_5'Flank	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	26					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAACGTGTCCCGTGTGGAGG	0.592000														27			20		0	0	0.002780	0	0
MED24	9862	broad.mit.edu	37	17	38183151	38183151	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:38183151G>A	uc002hts.3	-	15	1942	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	MED24_uc010wes.2_Missense_Mutation_p.S416F|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.S556F|MED24_uc002htu.3_Missense_Mutation_p.S543F|MED24_uc010cwn.3_Missense_Mutation_p.S543F|MED24_uc010weu.2_Missense_Mutation_p.S466F|MED24_uc010wev.1_Missense_Mutation_p.S506F|MED24_uc010wew.1_Missense_Mutation_p.S497F|MED24_uc010wex.1_Missense_Mutation_p.S261F|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	556					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGCCACCAGGGACTCCACTTT	0.642000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			13		0	0	0.002450	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747040	10747040	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:10747040C>T	uc002mpf.3	+	14	1414	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	SLC44A2_uc002mpe.4_Silent_p.A423A|SLC44A2_uc002mpg.1_Silent_p.A145A|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	425					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCCCCAATGCCCGTTGCCAGT	0.592000														67			25		0	0	0.003954	0	0
ANK3	288	broad.mit.edu	37	10	61833542	61833542	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61833542G>A	uc001jky.3	-	36	7435	c.7097C>T	c.(7096-7098)tCc>tTc	p.S2366F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2366					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCTCCCCGGGATAAGTCTTT	0.388000														26			25		0	0	0.006320	0	0
PTGIR	5739	broad.mit.edu	37	19	47124798	47124798	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:47124798G>A	uc002pex.3	-	2	1013	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	300					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	TGAGTCGCTGGAAGACAGCCT	0.627000														45			31		0	0	0.002096	0	0
OR2H2	7932	broad.mit.edu	37	6	29556430	29556430	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29556430G>A	uc003nmr.1	+	0	748	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	237					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAAGCTTTTGGGACCTGCTC	0.532000														48			16		0	0	0.008871	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282917	154282917	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:154282917C>T	uc004fmw.3	+	4	690	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.	180						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGGATTTTTCGGAGGCTTTC	0.418000														84			16		0	0	0.001523	0	0
KRT72	140807	broad.mit.edu	37	12	52980741	52980741	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52980741G>A	uc001sar.2	-	7	1420	c.1334C>T	c.(1333-1335)tCt>tTt	p.S445F	KRT72_uc001saq.2_Missense_Mutation_p.S445F|KRT72_uc010sns.1_Missense_Mutation_p.S403F|KRT72_uc010snt.1_Missense_Mutation_p.S257F	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	445	Tail.					keratin filament	structural molecule activity	p.S445F(2)		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)		GATGCTCACAGAATTTGGATA	0.428000														27			14		0	0	0.004007	0	0
ZNF418	147686	broad.mit.edu	37	19	58437712	58437712	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58437712G>A	uc002qqs.1	-	3	2129	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H528Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H613N(2)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCTCGAGTATGAAGTCTCTGA	0.453000														9			23		0	0	0.002780	0	0
PAX8	7849	broad.mit.edu	37	2	114002156	114002156	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:114002156G>A	uc010yxt.2	-	3	403	c.237C>T	c.(235-237)tcC>tcT	p.S79S	PAX8_uc010yxu.2_Silent_p.S79S|PAX8_uc002tjm.3_Silent_p.S79S|PAX8_uc002tjn.3_Silent_p.S79S|PAX8_uc010fku.1_Silent_p.S79S|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	79	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCTTGGGCTTGGAGCCCCCTA	0.557000			T	PPARG	follicular thyroid		Thyroid dysgenesis							110			57		0	0	0.003610	0	0
GLP2R	9340	broad.mit.edu	37	17	9792876	9792876	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:9792876G>A	uc002gmd.1	+	12	1516	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	506					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCTACATCTAGCCATGCGAGG	0.622000														38			21		0	0	0.003954	0	0
WDR63	126820	broad.mit.edu	37	1	85575818	85575818	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:85575818G>A	uc001dkt.3	+	16	1977	c.1786_splice	c.e16+1	p.D596_splice	WDR63_uc009wcl.3_Splice_Site_p.D557_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	596										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAAAACACAAGGTAACTGCCT	0.488000														29			10		0	0	0.006214	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719043	50719043	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50719043G>A	uc003bkv.4	-	24	4143	c.4050C>T	c.(4048-4050)ttC>ttT	p.F1350F	PLXNB2_uc003bkt.1_Silent_p.F142F|PLXNB2_uc003bku.1_Silent_p.F335F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1350					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACGCGAAGTAGACCT	0.642000														37			22		0	0	0.002299	0	0
HECW1	23072	broad.mit.edu	37	7	43447259	43447259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:43447259C>T	uc003tid.1	+	7	1335	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	HECW1_uc011kbi.1_Missense_Mutation_p.L244F|HECW1_uc003tie.1_Missense_Mutation_p.L276F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	244	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCCCCGCCCTCCCTCACCA	0.527000														13			10		0	0	0.006214	0	0
KLHL11	55175	broad.mit.edu	37	17	40011029	40011029	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:40011029T>A	uc002hyf.1	-	1	1096	c.1090A>T	c.(1090-1092)Att>Ttt	p.I364F		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	364						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ACACCTCCAATAACCATGATC	0.438000														41			26		0	0	0.006320	0	0
TPD52L3	89882	broad.mit.edu	37	9	6329004	6329004	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:6329004A>G	uc003zjw.3	+	0	656	c.409A>G	c.(409-411)Aga>Gga	p.R137G	TPD52L3_uc003zjv.3_Intron|TPD52L3_uc003zjx.2_Intron	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	137							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AGGGGGCAAAAGAGCTTGGCC	0.542000														7			22		0	0	0.002780	0	0
KCNH7	90134	broad.mit.edu	37	2	163374555	163374555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:163374555C>T	uc002uch.2	-	3	806	c.577G>A	c.(577-579)Gat>Aat	p.D193N	KCNH7_uc002uci.3_Missense_Mutation_p.D193N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCTACTGAATCATCACTGTGT	0.443000														55			36		0	0	0.004878	0	0
ATP12A	479	broad.mit.edu	37	13	25280515	25280515	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:25280515G>A	uc010aaa.3	+	14	2434	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	ATP12A_uc001upp.3_Missense_Mutation_p.E695K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	695					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACAGCTGGATGAGATCTTAGC	0.572000														19			7		0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734840	176734840	+	Missense_Mutation	SNP	C	T	T	rs144502400	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:176734840C>T	uc001gkz.3	+	14	5354	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1397	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACAGCTGTCCGTCATTGCTG	0.493000														123			45		0	0	0.003610	0	0
POTEE	445582	broad.mit.edu	37	2	131976449	131976449	+	Silent	SNP	C	T	T	rs142484775		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:131976449C>T	uc002tsn.2	+	0	526	c.474C>T	c.(472-474)atC>atT	p.I158I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	158							ATP binding	p.I158I(1)									AGGATCTCATCGTCATGCTCA	0.577000														81			19		0	0	0.001882	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45611473	45611473	+	RNA	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:45611473A>G	uc001jbz.3	-	3		c.277T>C			LOC100133308_uc009xmq.2_Non-coding_Transcript					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		GAGCACTTCCAAATTCTTCAG	0.463000														8			12		0	0	0.001368	0	0
PLG	5340	broad.mit.edu	37	6	161123346	161123346	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:161123346A>G	uc003qtm.4	+	0	122	c.10A>G	c.(10-12)Aag>Gag	p.K4E	PLG_uc021zhr.1_Missense_Mutation_p.K4E	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	4					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATGGAACATAAGGAAGTGGT	0.363000														20			19		0	0	0.003755	0	0
MEPE	56955	broad.mit.edu	37	4	88766960	88766960	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:88766960G>A	uc021xpx.1	+	3	1045	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	MEPE_uc021xpu.1_Missense_Mutation_p.G314R|MEPE_uc021xpv.1_Missense_Mutation_p.G201R|MEPE_uc021xpw.1_Missense_Mutation_p.G201R|MEPE_uc010ikn.3_Missense_Mutation_p.G201R|MEPE_uc003hqy.3_Missense_Mutation_p.G314R|MEPE_uc021xpy.1_Missense_Mutation_p.G201R	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	314					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAAAATGGTGGAAATACCAT	0.438000														35			12		0	0	0.001368	0	0
PLBD1	79887	broad.mit.edu	37	12	14693725	14693725	+	Silent	SNP	C	T	T	rs146454926		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:14693725C>T	uc001rcc.1	-	3	692	c.531G>A	c.(529-531)aaG>aaA	p.K177K		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	177					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TAGCCCTCTTCTTTGCTCCTA	0.353000														57			30		0	0	0.002445	0	0
CYP1B1	1545	broad.mit.edu	37	2	38298407	38298407	+	Missense_Mutation	SNP	C	T	T	rs72549379		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:38298407C>T	uc002rqo.2	-	2	1492	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	364			V -> M (in GLC3A).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TCCCTCCCCACGACCTGATCC	0.507000														17			9		0	0	0.006214	0	0
CLPS	1208	broad.mit.edu	37	6	35764997	35764997	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:35764997C>T	uc003ole.2	-	0	125	c.69G>A	c.(67-69)ggG>ggA	p.G23G	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Silent_p.G23G	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	23					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region		p.R22R(1)		large_intestine(2)|lung(2)|prostate(1)	5						TGATAATGATCCCCCGGGGGC	0.592000														111			15		0	0	0.006122	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981326	7981326	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:7981326C>T	uc010sgh.2	-	4	785	c.764G>A	c.(763-765)aGa>aAa	p.R255K	SLC2A14_uc001qtk.3_Missense_Mutation_p.R240K|SLC2A14_uc001qtl.3_Missense_Mutation_p.R217K|SLC2A14_uc001qtm.3_Missense_Mutation_p.R217K|SLC2A14_uc010sgg.2_Missense_Mutation_p.R131K|SLC2A14_uc001qtn.3_Missense_Mutation_p.R240K|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	240					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTCTTTTTTTCTGTTAATGAG	0.433000														39			13		0	0	0.001855	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						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)		GCGTGCCAAGGAAATCTTCGT	0.711000														10			10		0	0	0.006214	0	0
VN1R2	317701	broad.mit.edu	37	19	53761937	53761937	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:53761937G>A	uc002qbi.2	+	0	393	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	103					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)		GAATCCTGGGGAATTTTTCAC	0.438000														11			4		0	0	0.000248	0	0
LAMB4	22798	broad.mit.edu	37	7	107688550	107688550	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:107688550C>T	uc010ljo.1	-	27	4213	c.4129G>A	c.(4129-4131)Gga>Aga	p.G1377R	LAMB4_uc003vey.2_Missense_Mutation_p.G1377R|LAMB4_uc010ljp.1_Missense_Mutation_p.G346R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1377	Domain alpha.				cell adhesion	basement membrane		p.G1377*(2)|p.G1377R(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTGGATCTCCGCACACCTTG	0.493000														65			29		0	0	0.001786	0	0
NPHP3	27031	broad.mit.edu	37	3	132347190	132347190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:132347190G>A	uc003eov.4	-	7	1444	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	NPHP3_uc011blr.1_5'Flank	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTACCGTTTGGAGAGTTGTAG	0.373000														27			18		0	0	0.008871	0	0
FLG2	388698	broad.mit.edu	37	1	152328733	152328733	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152328733G>A	uc001ezw.4	-	2	1602	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	510	Ser-rich.						calcium ion binding|structural molecule activity	p.G509R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGAGACAGACCCATGCTG	0.517000														152			62		0	0	0.003610	0	0
ZNF549	256051	broad.mit.edu	37	19	58046596	58046596	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58046596C>T	uc002qpb.2	+	2	406	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	ZNF549_uc002qpa.2_Missense_Mutation_p.H40Y	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCCTGTATCATGATGTGAT	0.498000														63			38		0	0	0.004878	0	0
LRMP	4033	broad.mit.edu	37	12	25259884	25259884	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:25259884G>A	uc001rgh.3	+	19	2250	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	LRMP_uc010sja.2_Missense_Mutation_p.D386N|LRMP_uc010sjc.2_Missense_Mutation_p.D386N|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.D333N|LRMP_uc010sjd.2_Missense_Mutation_p.D333N	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	442					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CAGAACTAAAGATGACTCAGA	0.313000														5			3		0	0	0.004672	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403596	69403596	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:69403596G>A	uc021xov.1	-	5	1383	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	447					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATGAATTCTTGATAATTTCAT	0.383000														10			32		0	0	0.003271	0	0
HDAC9	9734	broad.mit.edu	37	7	18875168	18875168	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18875168G>A	uc003sui.3	+	18	2586	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	HDAC9_uc003sue.3_Missense_Mutation_p.D846N|HDAC9_uc011jyd.2_Missense_Mutation_p.D846N|HDAC9_uc003suh.3_Missense_Mutation_p.D846N|HDAC9_uc003suj.3_Missense_Mutation_p.D805N|HDAC9_uc003suk.3_Missense_Mutation_p.D94N	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	846	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCATCGCTATGATGAAGGGAA	0.453000														22			14		0	0	0.002450	0	0
LCE1D	353134	broad.mit.edu	37	1	152770349	152770349	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152770349C>T	uc021ozh.1	+	0	79	c.79C>T	c.(79-81)Cct>Tct	p.P27S	LCE1D_uc009wnp.3_Missense_Mutation_p.P27S	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	27	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgcCCCGCCCCTAAATGTCC	0.647000														3			25		0	0	0.003330	0	0
HPSE	10855	broad.mit.edu	37	4	84240539	84240539	+	Silent	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:84240539G>T	uc003hoj.4	-	2	556	c.457C>A	c.(457-459)Cga>Aga	p.R153R	HPSE_uc003hoi.3_Silent_p.R153R|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.P10Q|HPSE_uc003hok.4_Silent_p.R153R|HPSE_uc011cct.2_Silent_p.R153R|HPSE_uc021xpr.1_Silent_p.R153R	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	153					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TAGTGTTCTCGGAGTAGCAAT	0.443000														40			18		1.01871e-10	1.21433e-10	0.008871	1	0
GPR128	84873	broad.mit.edu	37	3	100373862	100373862	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:100373862C>T	uc003duc.3	+	11	1831	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	GPR128_uc011bhc.2_Silent_p.I222I|GPR128_uc003dud.3_Silent_p.I44I	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	521					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCATTAACATCCCGAATCCCA	0.428000														29			44		0	0	0.003610	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784110	24784110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:24784110C>T	uc001iru.4	+	7	2222	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	KIAA1217_uc001irs.3_Missense_Mutation_p.H527Y|KIAA1217_uc001irt.4_Missense_Mutation_p.H572Y|KIAA1217_uc010qcy.2_Missense_Mutation_p.H572Y|KIAA1217_uc010qcz.2_Missense_Mutation_p.H572Y|KIAA1217_uc001irv.1_Missense_Mutation_p.H422Y|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.H290Y|KIAA1217_uc001irz.3_Missense_Mutation_p.H290Y|KIAA1217_uc001irx.3_Missense_Mutation_p.H290Y|KIAA1217_uc001iry.3_Missense_Mutation_p.H290Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	607					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAACAGGAACCACACAGATAG	0.423000														13			7		0	0	0.004482	0	0
MBD5	55777	broad.mit.edu	37	2	149240828	149240828	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:149240828C>T	uc002twm.4	+	9	3665	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	890						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAGTGATTTTCCTTTTGTTGG	0.498000														48			46		0	0	0.003214	0	0
MUC16	94025	broad.mit.edu	37	19	9072352	9072352	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9072352G>A	uc002mkp.3	-	2	15298	c.15094C>T	c.(15094-15096)Ccc>Tcc	p.P5032S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5034	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						TCCACAGAGGGAGGACTTGTC	0.483000														31			16		0	0	0.004007	0	0
UGT1A1	54658	broad.mit.edu	37	2	234681080	234681080	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:234681080G>A	uc002vuw.3	+	4	1480	c.1480G>A	c.(1480-1482)Ggt>Agt	p.G494S	UGT1A1_uc002vup.3_Missense_Mutation_p.G490S|UGT1A1_uc002vur.3_Missense_Mutation_p.G490S|UGT1A1_uc002vus.3_Missense_Mutation_p.G490S|UGT1A1_uc002vut.3_Missense_Mutation_p.G490S|UGT1A1_uc002vuu.3_Missense_Mutation_p.G225S|UGT1A1_uc002vuv.4_Missense_Mutation_p.G492S|UGT1A1_uc002vux.3_Missense_Mutation_p.G494S|UGT1A1_uc002vuy.3_Missense_Mutation_p.G494S|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Missense_Mutation_p.G493S	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	493					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGACGTGATTGGTTTCCTCTT	0.547000														45			36		0	0	0.004878	0	0
DSC1	1823	broad.mit.edu	37	18	28728536	28728536	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:28728536C>T	uc002kwn.3	-	5	959	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	DSC1_uc002kwm.3_Missense_Mutation_p.E233K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	233	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTATCATCTTCAATTTTGATG	0.373000														41			12		0	0	0.001855	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501662	140501662	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140501662G>A	uc003lip.1	+	0	82	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	28					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTCGCCTCGAGCCTATTCG	0.517000														34			17		0	0	0.007413	0	0
TP63	8626	broad.mit.edu	37	3	189587144	189587144	+	Missense_Mutation	SNP	G	A	A	rs140374868		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:189587144G>A	uc003fry.2	+	8	1250	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	TP63_uc003frx.2_Missense_Mutation_p.M387I|TP63_uc003frz.2_Missense_Mutation_p.M387I|TP63_uc010hzc.1_Missense_Mutation_p.M387I|TP63_uc003fsa.2_Missense_Mutation_p.M293I|TP63_uc003fsb.2_Missense_Mutation_p.M293I|TP63_uc003fsc.2_Missense_Mutation_p.M293I|TP63_uc003fsd.2_Missense_Mutation_p.M293I|TP63_uc021xir.1_Missense_Mutation_p.M293I|TP63_uc010hzd.1_Missense_Mutation_p.M208I|TP63_uc003fse.1_Missense_Mutation_p.M264I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	387	Interaction with HIPK2.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|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	p.M387I(2)		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)		GTATCCAGATGACATCCATCA	0.398000										HNSCC(45;0.13)				15			13		0	0	0.008871	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605391	140605391	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140605391C>T	uc003ljb.3	+	0	2314	c.2314C>T	c.(2314-2316)Ccc>Tcc	p.P772S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGATTATCCCCAATTTTCA	0.428000														42			16		0	0	0.004990	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177651689	177651689	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:177651689G>A	uc003miz.3	-	4	707	c.455C>T	c.(454-456)cCc>cTc	p.P152L	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.P111L|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	152						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GAACTTGTAGGGACTGATGTC	0.612000														25			8		0	0	0.006214	0	0
SCN5A	6331	broad.mit.edu	37	3	38646229	38646230	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:38646229_38646230GG>AC	uc021wvo.1	-	9	1560_1561	c.1508_1509CC>GT	c.(1507-1509)ccc>cGT	p.P503R	SCN5A_uc021wvk.1_Missense_Mutation_p.P503R|SCN5A_uc021wvl.1_Missense_Mutation_p.P503R|SCN5A_uc021wvm.1_Missense_Mutation_p.P503R|SCN5A_uc021wvn.1_Missense_Mutation_p.P503R|SCN5A_uc021wvp.1_Missense_Mutation_p.P503R|SCN5A_uc021wvq.1_Missense_Mutation_p.P503R|SCN5A_uc021wvr.1_Missense_Mutation_p.P503R|SCN5A_uc021wvs.1_Missense_Mutation_p.P503R|SCN5A_uc021wvt.1_Missense_Mutation_p.P503R|SCN5A_uc021wvu.1_Missense_Mutation_p.P503R|SCN5A_uc021wvv.1_Missense_Mutation_p.P503R|SCN5A_uc021wvj.1_Missense_Mutation_p.P369R|SCN5A_uc021wvi.1_Missense_Mutation_p.P369R|SCN5A_uc021wvw.1_Missense_Mutation_p.P114R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	503					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCATTGCTCTGGGACCATCTTC	0.535000														8			9		0	0	0.004672	0	0
XKR4	114786	broad.mit.edu	37	8	56270244	56270244	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:56270244C>T	uc003xsf.3	+	1	845	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	271						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTAGATATTTCCACACAATAT	0.388000														19			13		0	0	0.002450	0	0
FCN1	2219	broad.mit.edu	37	9	137805459	137805459	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:137805459C>T	uc004cfi.3	-	5	397	c.308_splice	c.e5-1	p.G103_splice		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	103					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCAGCGTCTCCTGTGTGGGG	0.582000														2			15		0	0	0.006122	0	0
SDK1	221935	broad.mit.edu	37	7	4014170	4014170	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:4014170G>A	uc003smx.3	+	12	2126	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	663	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCCGGCTGGAAGTGATGTG	0.562000														15			5		0	0	0.000602	0	0
RYR2	6262	broad.mit.edu	37	1	237780706	237780706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:237780706G>A	uc001hyl.1	+	37	5956	c.5836G>A	c.(5836-5838)Gaa>Aaa	p.E1946K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1946	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGATACAACGAAGTCATGCA	0.453000														27			34		0	0	0.006999	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	G	G	rs143004725	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:12885059C>G	uc001auk.2	-	3	1248	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	351								p.C351S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532000														126			6		0	0	0.001168	0	0
CPSF3	51692	broad.mit.edu	37	2	9607863	9607863	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:9607863T>C	uc002qzo.1	+	15	1849	c.1814T>C	c.(1813-1815)tTa>tCa	p.L605S	CPSF3_uc002qzp.1_Missense_Mutation_p.L568S	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	605					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTAAAAAATTAGAAATGCAC	0.388000														28			17		0	0	0.007413	0	0
OR2M5	127059	broad.mit.edu	37	1	248308992	248308992	+	Silent	SNP	C	T	T	rs141891339		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248308992C>T	uc010pze.2	+	0	543	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F181F(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTGTGACTTCCCTTCCCTAC	0.423000														195			78		0	0	0.003610	0	0
NUP133	55746	broad.mit.edu	37	1	229623248	229623248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:229623248G>A	uc001htn.3	-	9	1399	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	436					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGGGGAAGAGAAAATTTCCC	0.403000														72			21		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179586847	179586847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179586847G>A	uc021vsy.1	-	74	19036	c.18811C>T	c.(18811-18813)Ccc>Tcc	p.P6271S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2932S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7198	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAAGAAGGGAGATTTCTTG	0.388000														87			57		0	0	0.003610	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45706921	45706921	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:45706921G>A	uc001zve.3	+	3	1696	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	529						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TCGTTTCAGTGAGTGGAGCTG	0.443000														35			18		0	0	0.002299	0	0
STAG1	10274	broad.mit.edu	37	3	136139954	136139954	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:136139954G>A	uc003era.1	-	19	2381	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	STAG1_uc003erb.1_Missense_Mutation_p.R697W|STAG1_uc003erc.1_Missense_Mutation_p.R471W|STAG1_uc010hua.1_Missense_Mutation_p.R560W	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	697					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GAAGTTAACCGCTTTAATGTA	0.378000														68			12		0	0	0.001855	0	0
SHQ1	55164	broad.mit.edu	37	3	72891553	72891553	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:72891553C>T	uc003dpf.3	-	3	316	c.209_splice	c.e3-1	p.G70_splice	SHQ1_uc010hod.3_Splice_Site	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	70	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GGTAAAAATTCCTTAAAGATA	0.418000														25			4		0	0	0.000248	0	0
PLAC1L	219990	broad.mit.edu	37	11	59812158	59812158	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:59812158A>C	uc001nol.3	+	2	443	c.258A>C	c.(256-258)gaA>gaC	p.E86D		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	86						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TTTCTGAGGAAACTCTCCTTT	0.408000														3			7		0	0	0.003080	0	0
ZMYM4	9202	broad.mit.edu	37	1	35847216	35847216	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35847216C>T	uc001byt.3	+	8	1506	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	ZMYM4_uc009vuu.3_Missense_Mutation_p.R444C|ZMYM4_uc001byu.3_Missense_Mutation_p.R152C|ZMYM4_uc009vuv.3_Missense_Mutation_p.R215C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	476					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTAAGTTTCGTTCTGCTAA	0.423000														58			27		0	0	0.005443	0	0
CAPSL	133690	broad.mit.edu	37	5	35910511	35910511	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35910511C>T	uc003jjt.1	-	2	367	c.272G>A	c.(271-273)gGa>gAa	p.G91E	CAPSL_uc003jju.1_Missense_Mutation_p.G91E	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	91	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGTTCCATTTCCATCTTTATC	0.373000														46			22		0	0	0.002299	0	0
TTLL2	83887	broad.mit.edu	37	6	167754880	167754880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:167754880C>T	uc003qvs.1	+	2	1580	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	498					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.F497V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAGGATTTTCATCTGTCAAC	0.557000														8			14		0	0	0.002450	0	0
ZNF101	94039	broad.mit.edu	37	19	19790846	19790846	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19790846C>T	uc002nni.2	+	3	1158	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	ZNF101_uc010ecg.2_Missense_Mutation_p.P230S|ZNF101_uc002nnj.2_Missense_Mutation_p.P230S	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTTCAATTATCCCAGTTGTTT	0.408000														16			13		0	0	0.002450	0	0
CDYL	9425	broad.mit.edu	37	6	4954232	4954232	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:4954232C>T	uc003mwi.3	+	8	1870	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	CDYL_uc003mwj.3_Missense_Mutation_p.S526L|CDYL_uc003mwk.3_Missense_Mutation_p.S291L|CDYL_uc011dhx.2_Missense_Mutation_p.S394L|CDYL_uc011dhy.2_Missense_Mutation_p.S394L	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	580					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.S580L(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ATCTGGGGCTCGGCCCAGGGG	0.572000														16			13		0	0	0.002450	0	0
OBFC2A	64859	broad.mit.edu	37	2	192550392	192550393	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:192550392_192550393CC>TT	uc002usx.3	+	5	993_994	c.513_514CC>TT	c.(511-516)ggccgg>ggTTgg	p.R172W	OBFC2A_uc021vuf.1_Non-coding_Transcript|OBFC2A_uc002usw.3_Missense_Mutation_p.R92W|OBFC2A_uc002usy.3_Non-coding_Transcript|OBFC2A_uc021vug.1_Missense_Mutation_p.R69W	NM_001031716	NP_001241665	Q96AH0	SOSB2_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A), transcript variant 1, mRNA.	172					G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	single-stranded DNA binding			kidney(2)|large_intestine(2)|lung(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			GAAGCAATGGCCGGGGACTTAT	0.416000														14			5		0	0	0.004672	0	0
GALNT14	79623	broad.mit.edu	37	2	31154962	31154962	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:31154962G>A	uc002rns.3	-	10	1685	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	GALNT14_uc002rnq.3_Missense_Mutation_p.P324S|GALNT14_uc010ymr.2_Missense_Mutation_p.P309S|GALNT14_uc002rnr.3_Missense_Mutation_p.P344S|GALNT14_uc010ezo.2_Missense_Mutation_p.P311S|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	344						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTTCCATCAGGGAAAACGTAG	0.607000														13			15		0	0	0.003163	0	0
LRP2	4036	broad.mit.edu	37	2	170096222	170096222	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:170096222C>T	uc002ues.3	-	25	4322	c.4109G>A	c.(4108-4110)gGg>gAg	p.G1370E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1370	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.F1369C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCATTTAGCCCCAAAGGGCTC	0.403000														36			20		0	0	0.008871	0	0
AQPEP	206338	broad.mit.edu	37	5	115320281	115320281	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115320281G>A	uc003kro.3	+	2	1017	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	AQPEP_uc003krp.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	285					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTCTGAAAAAGAAGATGTGAA	0.363000														12			9		0	0	0.000978	0	0
PRKCG	5582	broad.mit.edu	37	19	54403501	54403501	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54403501C>T	uc002qcq.1	+	11	1578	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PRKCG_uc010yeg.1_Silent_p.F432F|PRKCG_uc010yeh.1_Silent_p.F319F	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	432	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCCTGTATTTCGTGATGGAGT	0.537000														26			17		0	0	0.007413	0	0
SCAND3	114821	broad.mit.edu	37	6	28540229	28540229	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:28540229C>T	uc003nlo.3	-	3	4055	c.3437G>A	c.(3436-3438)aGa>aAa	p.R1146K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1146					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgtagaaattctgtttttcca	0.308000														48			19		0	0	0.007413	0	0
GRPR	2925	broad.mit.edu	37	X	16170386	16170386	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:16170386C>T	uc004cxj.3	+	2	1426	c.773C>T	c.(772-774)tCc>tTc	p.S258F		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	258					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TAGATTGAATCCCGGAAGCGA	0.502000														55			21		0	0	0.001882	0	0
SPATA16	83893	broad.mit.edu	37	3	172642095	172642095	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:172642095G>A	uc003fin.4	-	7	1425	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	414					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CAGACCGAAAGGTGTTTTATG	0.333000														24			27		0	0	0.008361	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207639	116207639	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:116207639C>T	uc021pyx.1	-	15	1834	c.1735_splice	c.e15+1	p.G579_splice	ABLIM1_uc021pyw.1_Splice_Site_p.G579_splice|ABLIM1_uc021pyy.1_Splice_Site_p.G547_splice|ABLIM1_uc021pyz.1_Splice_Site_p.G513_splice|ABLIM1_uc021pza.1_Splice_Site_p.G519_splice|ABLIM1_uc021pze.1_Intron|ABLIM1_uc021pzf.1_Splice_Site_p.G543_splice|ABLIM1_uc021pyv.1_Splice_Site_p.G249_splice|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Splice_Site_p.G195_splice|ABLIM1_uc021pzd.1_Splice_Site_p.G392_splice|ABLIM1_uc021pyu.1_Splice_Site_p.G256_splice	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	579					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGTTGCATACCTACGACAGCA	0.483000														23			4		0	0	0.000602	0	0
TTLL4	9654	broad.mit.edu	37	2	219617875	219617876	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219617875_219617876CC>TT	uc002viy.3	+	17	3595_3596	c.3225_3226CC>TT	c.(3223-3228)ttccac>ttTTac	p.H1076Y	TTLL4_uc010zkl.1_Missense_Mutation_p.H911Y|TTLL4_uc010fvx.3_Missense_Mutation_p.H1012Y|TTLL4_uc010zkm.1_3'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1076					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACAAAGGGTTCCACATGGGAGT	0.520000														119			63		0	0	0.004672	0	0
NFXL1	152518	broad.mit.edu	37	4	47886373	47886373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:47886373G>A	uc010igh.3	-	14	2083	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	NFXL1_uc003gxp.3_Missense_Mutation_p.P636S|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.P636S	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	636						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATAGGAATAGGAACTTGACAT	0.353000														18			17		0	0	0.007413	0	0
C8orf34	116328	broad.mit.edu	37	8	69434197	69434197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:69434197C>T	uc010lyz.3	+	5	1220	c.929C>T	c.(928-930)cCt>cTt	p.P310L	C8orf34_uc010lyy.2_Missense_Mutation_p.P310L|C8orf34_uc003xyb.3_Missense_Mutation_p.P199L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	224					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGCTCTAGTCCTGCAGGAAGG	0.408000														22			10		0	0	0.008291	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891565	18891565	+	Silent	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:18891565T>A	uc001rdy.3	+	0	521	c.363T>A	c.(361-363)ctT>ctA	p.L121L	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	121					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAGTTGTTCTTCTGTGCGCCT	0.383000														22			12		0	0	0.000978	0	0
PCDH18	54510	broad.mit.edu	37	4	138451272	138451272	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:138451272G>A	uc003ihe.4	-	0	2358	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	PCDH18_uc003ihf.4_Silent_p.I650I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I437I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	657	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTCCTGAATGATAACTGACA	0.423000														60			60		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10412885	10412885	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10412885C>T	uc002gmo.3	-	14	1598	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	502	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TTGTACTCCTCCTGCTCCAGC	0.488000														52			20		0	0	0.001882	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617253	77617253	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77617253G>A	uc003yau.2	+	1	1317	c.930G>A	c.(928-930)caG>caA	p.Q310Q	ZFHX4_uc003yat.1_Silent_p.Q310Q|ZFHX4_uc003yaw.1_Silent_p.Q310Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	310						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGAGGAGCAGAAGCTCCTCA	0.413000										HNSCC(33;0.089)				36			31		0	0	0.002445	0	0
PIGT	51604	broad.mit.edu	37	20	44049272	44049272	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44049272C>T	uc002xoh.2	+	7	1062	c.972C>T	c.(970-972)gcC>gcT	p.A324A	PIGT_uc010ghb.2_Silent_p.A314A|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Silent_p.A231A|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Silent_p.A287A|PIGT_uc010ghf.2_Silent_p.A277A|PIGT_uc010zwz.2_Silent_p.A62A|PIGT_uc010zww.2_Silent_p.A268A|PIGT_uc010zwy.2_Silent_p.A222A|PIGT_uc002xoj.2_Silent_p.A324A|PIGT_uc010zwu.2_Silent_p.A62A|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Silent_p.A62A|PIGT_uc010zwx.2_Silent_p.A159A|PIGT_uc010zxa.2_Silent_p.A162A|PIGT_uc002xol.1_Silent_p.A180A|PIGT_uc010zxb.1_5'UTR	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	324					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTGACACCGCCATGATCAACA	0.537000														19			33		0	0	0.002445	0	0
HDAC9	9734	broad.mit.edu	37	7	18705844	18705844	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18705844G>A	uc003sui.3	+	10	1517	c.1476G>A	c.(1474-1476)tcG>tcA	p.S492S	HDAC9_uc003sue.3_Silent_p.S489S|HDAC9_uc011jyd.2_Silent_p.S489S|HDAC9_uc003suh.3_Silent_p.S489S|HDAC9_uc003suj.3_Silent_p.S448S|HDAC9_uc011jya.2_Silent_p.S487S|HDAC9_uc003sua.1_Silent_p.S467S|HDAC9_uc003sud.2_Silent_p.S489S|HDAC9_uc011jyc.2_Silent_p.S448S|HDAC9_uc011jyb.2_Silent_p.S445S|HDAC9_uc003suf.2_Silent_p.S520S|HDAC9_uc010kud.2_Silent_p.S492S|HDAC9_uc011jye.2_Silent_p.S461S|HDAC9_uc011jyf.2_Silent_p.S412S|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	489					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCTGCTTTCGAAATCTATTG	0.448000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			23		0	0	0.002780	0	0
XIST	7503	broad.mit.edu	37	X	73069151	73069151	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73069151G>A	uc004ebm.1	-	0		c.3438C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TCCAACAAAAGACGGGTTGTC	0.438000														15			18		0	0	0.001523	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716012	170716012	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:170716012G>A	uc003fhe.1	-	9	1653	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SLC2A2_uc003fhf.1_Silent_p.F275F|SLC2A2_uc011bpu.1_Silent_p.F321F	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	448					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.F448F(2)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAGCTACAATGAAATTGCAGG	0.458000														22			31		0	0	0.002445	0	0
FREM1	158326	broad.mit.edu	37	9	14746954	14746954	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:14746954C>T	uc003zlm.3	-	34	6921	c.6105G>A	c.(6103-6105)ggG>ggA	p.G2035G	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.G571G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2035					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCCAGGCGATCCCATTGCACT	0.488000														3			3		0	0	0.000248	0	0
PSG2	5670	broad.mit.edu	37	19	43570732	43570732	+	Missense_Mutation	SNP	G	A	A	rs1142259		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43570732G>A	uc002ovr.3	-	4	1157	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	329					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGGAGAGGAAGAAGTCCTATT	0.413000														44			20		0	0	0.008871	0	0
CAP1	10487	broad.mit.edu	37	1	40525125	40525125	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:40525125C>T	uc009vvz.3	+	1	321	c.107C>T	c.(106-108)tCa>tTa	p.S36L	CAP1_uc010ojd.1_Non-coding_Transcript|CAP1_uc010oje.2_Nonsense_Mutation_p.Q6*|CAP1_uc001cfa.4_Missense_Mutation_p.S36L|CAP1_uc001cey.4_Missense_Mutation_p.S36L|CAP1_uc001cez.4_Missense_Mutation_p.S36L	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	36					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAGTCCTTCAAAAGGTAAG	0.483000														34			26		0	0	0.003954	0	0
LRRC15	131578	broad.mit.edu	37	3	194080247	194080247	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:194080247G>A	uc003ftt.3	-	2	1669	c.1544C>T	c.(1543-1545)aCc>aTc	p.T515I	LRRC15_uc003ftu.3_Missense_Mutation_p.T509I|LRRC15_uc021xiy.1_Missense_Mutation_p.T509I	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	509						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CACAGGGCTGGTTAGCTCAGT	0.572000														28			6		0	0	0.001168	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138946	22138946	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:22138946G>A	uc003xbn.2	+	3	491	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PIWIL2_uc011kzf.1_Missense_Mutation_p.E115K|PIWIL2_uc010ltv.2_Missense_Mutation_p.E115K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	115					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGACAGGGAGGAACTCTCTCC	0.507000														67			24		0	0	0.003954	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594389	140594389	+	Missense_Mutation	SNP	G	A	A	rs143547458		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140594389G>A	uc003lja.1	+	0	881	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	232	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATCGAAGTCCTGGA	0.532000														129			23		0	0	0.002445	0	0
DCDC5	100506627	broad.mit.edu	37	11	30932947	30932947	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:30932947T>C	uc009yjk.1	-	15	2087	c.2018A>G	c.(2017-2019)aAc>aGc	p.N673S	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.N332S	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	304					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AAGGTCAGGGTTACTCACAAG	0.428000														4			5		0	0	0.001984	0	0
SSX3	10214	broad.mit.edu	37	X	48209480	48209480	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48209480C>T	uc004djd.1	-	5	502	c.408G>A	c.(406-408)ggG>ggA	p.G136G	SSX3_uc004dje.3_Silent_p.G136G	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						ACAGCTGTTTCCCATCGTTTT	0.473000														129			41		0	0	0.002522	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969226	140969226	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:140969226G>A	uc011mwp.2	+	3	553	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	185	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTATACACTGGATGAAAAGGT	0.443000														17			31		0	0	0.008361	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21216002G>A	uc021rom.1	+	0	263	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EDDM3A_uc001vyc.3_Missense_Mutation_p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	88					sperm displacement	extracellular space		p.R88Q(2)|p.R88R(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453000														7			7		0	0	0.003080	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247300	55247300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:55247300G>A	uc002qgu.1	+	6	1086	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	KIR2DL1_uc002qgx.3_5'Flank|KIR2DL1_uc010erw.1_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	356						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTGTAATGGACCAAGAGC	0.522000														9			29		0	0	0.003755	0	0
C7	730	broad.mit.edu	37	5	40945390	40945390	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:40945390C>T	uc003jmh.3	+	6	772	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	220	MACPF.		R -> Q (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCATCTAGTCGGAAGCGCTC	0.313000														13			11		0	0	0.008291	0	0
KARS	3735	broad.mit.edu	37	16	75670389	75670389	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:75670389C>T	uc002feq.3	-	3	493	c.445G>A	c.(445-447)Gga>Aga	p.G149R	KARS_uc002fer.3_Missense_Mutation_p.G177R|KARS_uc010cgz.3_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	149					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ACCCCCTCTCCTCGAAGATCA	0.453000														109			62		0	0	0.003610	0	0
CDCA7	83879	broad.mit.edu	37	2	174228142	174228142	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:174228142G>A	uc002uic.1	+	3	704	c.573G>A	c.(571-573)atG>atA	p.M191I	CDCA7_uc002uid.1_Missense_Mutation_p.M112I|CDCA7_uc010zej.1_Missense_Mutation_p.M147I|CDCA7_uc010zek.1_Missense_Mutation_p.M70I	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	112					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAAGTGGAATGAATTTTTTGG	0.403000														22			22		0	0	0.002780	0	0
AFF1	4299	broad.mit.edu	37	4	88036097	88036097	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:88036097C>T	uc011ccz.2	+	11	2387	c.2112C>T	c.(2110-2112)acC>acT	p.T704T	AFF1_uc003hqj.4_Silent_p.T697T|AFF1_uc003hqk.4_Silent_p.T697T|AFF1_uc011cda.2_Silent_p.T335T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	697						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGGACAGGACCCCTGAGCACT	0.637000														32			6		0	0	0.001984	0	0
EPHA7	2045	broad.mit.edu	37	6	93982080	93982080	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:93982080G>A	uc003poe.3	-	5	1626	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	EPHA7_uc003pof.3_Missense_Mutation_p.S462F|EPHA7_uc011eac.2_Missense_Mutation_p.S462F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	462	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCCTGCCAGGAAAGCTCGAC	0.433000														64			38		0	0	0.006999	0	0
CFH	3075	broad.mit.edu	37	1	196883739	196883739	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:196883739G>A	uc001gtp.3	+	7	1432	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G431E|CFH_uc001gto.3_Missense_Mutation_p.G185E	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	782	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCAGTTATGGAAACACCACA	0.378000														35			10		0	0	0.008291	0	0
PLCE1	51196	broad.mit.edu	37	10	96044656	96044656	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:96044656G>A	uc001kjk.3	+	21	5603	c.4969G>A	c.(4969-4971)Gaa>Aaa	p.E1657K	PLCE1_uc010qnx.2_Missense_Mutation_p.E1641K|PLCE1_uc001kjm.3_Missense_Mutation_p.E1349K|PLCE1_uc001kjp.3_Missense_Mutation_p.E15K|LOC100128054_uc001kjo.2_Intron	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1657					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAATAAAAAGGAAAGCAGACA	0.338000														12			13		0	0	0.001855	0	0
TRPM2	7226	broad.mit.edu	37	21	45786782	45786782	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:45786782T>A	uc010gpt.1	+	3	669	c.569T>A	c.(568-570)tTc>tAc	p.F190Y	TRPM2_uc002zet.1_Missense_Mutation_p.F190Y|TRPM2_uc002zeu.1_Missense_Mutation_p.F190Y|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.F190Y|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	190						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AAGAGCATTTTCCGCAGAGGC	0.642000														14			5		0	0	0.001168	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460438	32460438	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:32460438G>A	uc021qfr.1	+	0		c.964G>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ATGCAGAGGCGAGGACAGCCC	0.532000														11			8		0	0	0.003080	0	0
RASSF4	83937	broad.mit.edu	37	10	45485153	45485153	+	Silent	SNP	C	T	T	rs11540204	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:45485153C>T	uc001jbp.3	+	6	2311	c.762C>T	c.(760-762)atC>atT	p.I254I	RASSF4_uc001jbo.3_Silent_p.I223I|RASSF4_uc009xmn.3_Silent_p.I153I|RASSF4_uc001jbq.3_Silent_p.I120I|RASSF4_uc001jbt.3_Silent_p.I180I			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	223	Ras-associating.				cell cycle|signal transduction		protein binding	p.A253T(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CACTCTACATCGTTCACGAGT	0.557000														24			17		0	0	0.007413	0	0
KCNN3	3782	broad.mit.edu	37	1	154698442	154698442	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:154698442C>T	uc021pah.1	-	5	2010	c.1696G>A	c.(1696-1698)Gcg>Acg	p.A566T	KCNN3_uc001ffo.3_Missense_Mutation_p.A246T|KCNN3_uc001ffp.3_Missense_Mutation_p.A551T	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	556	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGCTTCTCCGCTTTGGTGAGT	0.567000														44			17		0	0	0.008871	0	0
CILP2	148113	broad.mit.edu	37	19	19655723	19655723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19655723G>A	uc002nmw.4	+	7	2472	c.2387G>A	c.(2386-2388)gGc>gAc	p.G796D	CILP2_uc002nmv.4_Missense_Mutation_p.G790D	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	790						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCCAATGGCGCCTGCCTC	0.741000														10			3		0	0	0.000602	0	0
OR4K2	390431	broad.mit.edu	37	14	20344485	20344485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20344485C>T	uc001vwh.1	+	0	59	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCTAATTCCTGGGAACTA	0.403000														94			14		0	0	0.003163	0	0
FAM3D	131177	broad.mit.edu	37	3	58622068	58622068	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:58622068C>T	uc003dkq.3	-	8	835	c.538G>A	c.(538-540)Gtc>Atc	p.V180I		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	180					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCTATGAAGACCCAGCTGTCC	0.547000														22			19		0	0	0.008871	0	0
TPTE	7179	broad.mit.edu	37	21	10941939	10941939	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:10941939C>T	uc002yip.1	-	13	1132	c.764G>A	c.(763-765)gGa>gAa	p.G255E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G237E|TPTE_uc002yir.1_Missense_Mutation_p.G217E|TPTE_uc010gkv.1_Missense_Mutation_p.G117E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	255	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G255E(1)|p.G237E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGACTGCCTTCCAGAAGATGG	0.289000														81			18		0	0	0.001882	0	0
NSRP1	84081	broad.mit.edu	37	17	28511669	28511669	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:28511669C>T	uc002heu.3	+	6	682	c.654C>T	c.(652-654)tcC>tcT	p.S218S	NSRP1_uc002hev.3_Silent_p.S164S|NSRP1_uc010wbl.2_Silent_p.S164S|NSRP1_uc010wbm.2_Silent_p.S164S|NSRP1_uc002hex.3_Silent_p.S164S	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	218					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGGGCTTCTCCAATGAAGTAA	0.348000														20			18		0	0	0.001882	0	0
PSG9	5678	broad.mit.edu	37	19	43762592	43762592	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43762592G>A	uc002owd.4	-	4	1104	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	PSG9_uc002owe.4_Silent_p.P242P|PSG9_uc010xwm.2_Silent_p.P242P|PSG9_uc002owf.4_Silent_p.P149P|PSG9_uc002owg.2_Silent_p.P242P	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	335	Ig-like C2-type 3.				female pregnancy	extracellular region		p.L334I(1)|p.P335H(1)|p.L334L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAAATTCTGGGGAGGTCTG	0.478000														82			66		0	0	0.003610	0	0
POU2F2	5452	broad.mit.edu	37	19	42603737	42603737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42603737G>A	uc002osp.3	-	6	505	c.443C>T	c.(442-444)cCt>cTt	p.P148L	POU2F2_uc002osn.3_Missense_Mutation_p.P148L|POU2F2_uc002osq.3_Missense_Mutation_p.P148L|POU2F2_uc002osr.2_Missense_Mutation_p.P148L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	148					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTTTGCTGAGGTAGCTGGAA	0.597000														17			17		0	0	0.006122	0	0
NRAS	4893	broad.mit.edu	37	1	115258718	115258718	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:115258718G>T	uc009wgu.3	-	1	318	c.64C>A	c.(64-66)Cag>Aag	p.Q22K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	22					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGATTAGCTGGATTGTCAGT	0.498000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				25			29		1.26612e-14	1.51296e-14	0.003271	1	0
ZNF599	148103	broad.mit.edu	37	19	35251315	35251315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:35251315G>A	uc010edn.1	-	3	779	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	ZNF599_uc010edm.2_Nonsense_Mutation_p.Q94*	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCCTTCCTGAATTTTTATT	0.453000														43			32		0	0	0.002836	0	0
MYH4	4622	broad.mit.edu	37	17	10348346	10348346	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10348346C>T	uc002gmn.3	-	36	5524	c.5413G>A	c.(5413-5415)Gag>Aag	p.E1805K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1805					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCAGCTGCTCAGCCTCATCC	0.567000														67			30		0	0	0.002445	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920074	5920074	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:5920074A>G	uc003zjq.4	-	7	6138	c.5922T>C	c.(5920-5922)agT>agC	p.S1974S	KIAA2026_uc010mht.3_Silent_p.S1149S	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1974										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGGGTATAGAACTTGCATTCC	0.388000														11			39		0	0	0.006230	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657436	139657436	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:139657436C>T	uc011kqv.2	+	8	1068	c.833C>T	c.(832-834)tCa>tTa	p.S278L	TBXAS1_uc003vvh.3_Missense_Mutation_p.S232L|TBXAS1_uc010lne.3_Missense_Mutation_p.S164L|TBXAS1_uc011kqu.2_Missense_Mutation_p.S183L|TBXAS1_uc003vvi.3_Missense_Mutation_p.S232L|TBXAS1_uc011kqw.2_Missense_Mutation_p.S212L|TBXAS1_uc003vvj.3_Missense_Mutation_p.S232L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	231					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TTTCAAGTATCATTTCCATCC	0.453000														34			25		0	0	0.005443	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640176	94640176	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:94640176C>T	uc001dqj.4	-	22	3404	c.3035G>A	c.(3034-3036)aGg>aAg	p.R1012K	ARHGAP29_uc009wdq.1_Non-coding_Transcript	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1012					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AATCTTGGTCCTTGGAGTATG	0.403000														38			28		0	0	0.006320	0	0
RYR2	6262	broad.mit.edu	37	1	237754053	237754053	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:237754053G>A	uc001hyl.1	+	30	4041	c.3921G>A	c.(3919-3921)ccG>ccA	p.P1307P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1307	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGCATGCCGATCGAGTGCG	0.507000														151			59		0	0	0.003610	0	0
PRDM16	63976	broad.mit.edu	37	1	3328487	3328487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:3328487G>A	uc001akf.3	+	8	1808	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	PRDM16_uc001ake.3_Missense_Mutation_p.E576K|PRDM16_uc009vlh.3_Missense_Mutation_p.E277K|PRDM16_uc001akc.3_Missense_Mutation_p.E576K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	576					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)		TGCGGGGCCCGAGGAGAAGTT	0.662000			T	EVI1	"""MDS, AML"""									27			16		0	0	0.003163	0	0
DNAH7	56171	broad.mit.edu	37	2	196722428	196722428	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196722428G>A	uc002utj.4	-	43	8188	c.8087C>T	c.(8086-8088)tCc>tTc	p.S2696F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2696	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTCTTCATGGATTTTACCAC	0.358000														12			10		0	0	0.001368	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630441	51630442	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:51630441_51630442CC>TT	uc010yct.2	+	3	998_999	c.903_904CC>TT	c.(901-906)aacccg>aaTTcg	p.P302S	SIGLEC9_uc002pvu.3_Missense_Mutation_p.P302S	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	302	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGCCCTCAAACCCGGGGGTGCT	0.619000														42			30		0	0	0.004672	0	0
CADM1	23705	broad.mit.edu	37	11	115047285	115047285	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:115047285C>T	uc001ppi.4	-	9	1367	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Missense_Mutation_p.G385E|CADM1_uc001ppj.4_Missense_Mutation_p.G414E|CADM1_uc001pph.4_Missense_Mutation_p.G176E	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	413					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTCATCGGCTCCTTTGGCTTC	0.463000														16			37		0	0	0.007835	0	0
FAT4	79633	broad.mit.edu	37	4	126411517	126411517	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126411517A>G	uc003ifj.4	+	16	13540	c.13540A>G	c.(13540-13542)Acc>Gcc	p.T4514A	FAT4_uc011cgp.2_Missense_Mutation_p.T2755A|FAT4_uc003ifi.1_Missense_Mutation_p.T1991A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4514					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCTGCGCAACCGTCTTGGC	0.567000														30			9		0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61894123	61894123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61894123G>A	uc001jky.3	-	24	3085	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	ANK3_uc001jkw.3_Missense_Mutation_p.S50F|ANK3_uc009xpa.3_Missense_Mutation_p.S50F|ANK3_uc001jkx.3_Missense_Mutation_p.S94F|ANK3_uc010qih.2_Missense_Mutation_p.S917F|ANK3_uc001jkz.4_Missense_Mutation_p.S910F|ANK3_uc001jla.1_5'Flank|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	916					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R915L(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAACTGAAGGAGCGGAGGCT	0.418000														7			10		0	0	0.000978	0	0
PEG3	5178	broad.mit.edu	37	19	57327204	57327204	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:57327204T>A	uc002qnu.2	-	6	2957	c.2606A>T	c.(2605-2607)aAt>aTt	p.N869I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N840I|PEG3_uc002qnv.2_Missense_Mutation_p.N869I|PEG3_uc002qnw.2_Missense_Mutation_p.N745I|PEG3_uc002qnx.2_Missense_Mutation_p.N743I|PEG3_uc010etr.2_Missense_Mutation_p.N869I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	869					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGCTTATCATTAAGGTCTGA	0.438000														32			27		0	0	0.008361	0	0
TAPBP	6892	broad.mit.edu	37	6	33281529	33281529	+	Silent	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:33281529T>G	uc003odx.2	-	1	496	c.150A>C	c.(148-150)ggA>ggC	p.G50G	TAPBP_uc010jut.2_Silent_p.G50G|TAPBP_uc003odz.3_Silent_p.G50G|TAPBP_uc003ody.3_Silent_p.G50G|TAPBP_uc011drc.2_Silent_p.G50G	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	50					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GTTCCCCCGGTCCCTGGCGCA	0.672000														45			11		0	0	0.000978	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840383	130840383	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:130840383A>G	uc003kvn.2	-	10	1396	c.1190T>C	c.(1189-1191)gTt>gCt	p.V397A	RAPGEF6_uc003kvp.2_Missense_Mutation_p.V447A|RAPGEF6_uc003kvo.2_Missense_Mutation_p.V397A|RAPGEF6_uc010jdi.2_Missense_Mutation_p.V397A|RAPGEF6_uc010jdj.2_Missense_Mutation_p.V397A|RAPGEF6_uc003kvq.3_Missense_Mutation_p.V114A|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.V397A|RAPGEF6_uc010jdk.3_Missense_Mutation_p.V397A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	397					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGTACCATAACAATTTCTCC	0.398000														28			21		0	0	0.002299	0	0
UNC13C	440279	broad.mit.edu	37	15	54914599	54914599	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:54914599C>T	uc021smr.1	+	28	6175	c.6175C>T	c.(6175-6177)Cat>Tat	p.H2059Y	UNC13C_uc021sms.1_Missense_Mutation_p.H2061Y|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2061	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2059R(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACGGGAGATCATAAAGTCAC	0.438000														40			28		0	0	0.008361	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861614	27861614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:27861614C>T	uc003nkc.1	+	0	412	c.374C>T	c.(373-375)tCc>tTc	p.S125F	HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.	125					nucleosome assembly	nucleosome|nucleus	DNA binding										TACACCAGCTCCAAGTGAGCT	0.597000														37			14		0	0	0.002450	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808870	80808870	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:80808870G>A	uc010ysh.2	+	12	1938	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CTNNA2_uc010yse.2_Missense_Mutation_p.E645K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E645K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E645K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E277K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	645					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTTGAGCAGGAAGATTATGA	0.458000														29			20		0	0	0.003954	0	0
MLL3	58508	broad.mit.edu	37	7	151877015	151877015	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:151877015G>A	uc003wla.3	-	36	7565	c.7346C>T	c.(7345-7347)cCt>cTt	p.P2449L	MLL3_uc003wkz.3_Missense_Mutation_p.P1510L|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2449	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCCTAAAGGAGGGGCAACAGG	0.502000			N		medulloblastoma									30			23		0	0	0.003330	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:55955863G>A	uc003has.3	-	23	3601	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	KDR_uc003hat.1_Missense_Mutation_p.S1100F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1100	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				78			28		0	0	0.007291	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800816	26800816	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:26800816C>T	uc001iss.3	+	6	993	c.672C>T	c.(670-672)atC>atT	p.I224I	APBB1IP_uc009xks.1_Silent_p.I224I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	224	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.I224V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTATGAAATCTACCCGGAAC	0.458000														25			16		0	0	0.004007	0	0
FAM135B	51059	broad.mit.edu	37	8	139163736	139163736	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:139163736A>T	uc003yuy.3	-	12	3153	c.2982T>A	c.(2980-2982)caT>caA	p.H994Q	FAM135B_uc003yux.3_Missense_Mutation_p.H895Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.H556Q|FAM135B_uc003yvb.3_Missense_Mutation_p.H556Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	994										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACCTGGGAATGAACGGAAT	0.502000										HNSCC(54;0.14)				21			14		0	0	0.001855	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443451	5443451	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:5443451C>T	uc010qzd.2	+	0	111	c.21C>T	c.(19-21)acC>acT	p.T7T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACTAACACCACACAAGAAG	0.468000														11			27		0	0	0.007291	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480851	140480851	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140480851G>A	uc003lio.3	+	0	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	206	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q205Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGCCGGAACTCAGCT	0.567000														18			18		0	0	0.007413	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95454691	95454691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95454691G>A	uc001kiz.2	-	4	421	c.223C>T	c.(223-225)Caa>Taa	p.Q75*	FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Nonsense_Mutation_p.Q75*|FRA10AC1_uc009xuh.1_Nonsense_Mutation_p.Q76*	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	75						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						GTATGTCTTTGATACTGAAAT	0.318000														29			29		0	0	0.005443	0	0
RCAN2	10231	broad.mit.edu	37	6	46216487	46216487	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:46216487C>T	uc003oyc.2	-	2	525	c.372G>A	c.(370-372)ggG>ggA	p.G124G	RCAN2_uc003oyb.2_Silent_p.G78G|RCAN2_uc003oyd.2_Silent_p.G124G	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	78					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTAATTTTTTCCCTCTGAATT	0.353000														30			4		0	0	0.000248	0	0
TMEM130	222865	broad.mit.edu	37	7	98449069	98449069	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:98449069G>A	uc003upo.3	-	5	1170	c.981C>T	c.(979-981)taC>taT	p.Y327Y	TMEM130_uc011kiq.2_Silent_p.Y308Y|TMEM130_uc011kir.2_Silent_p.Y327Y|TMEM130_uc003upn.3_Silent_p.Y225Y	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	327						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGATCTTGTGGTACTGATGTG	0.577000														42			17		0	0	0.004990	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032414	21032414	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:21032414G>A	uc010sil.2	+	8	1245	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	SLCO1B3_uc001rek.3_Missense_Mutation_p.G394R|SLCO1B3_uc001rel.3_Missense_Mutation_p.G394R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	394					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)					GTTTTTAGGAGGATTTATCAT	0.284000														13			13		0	0	0.001368	0	0
FAM47C	442444	broad.mit.edu	37	X	37026802	37026802	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37026802C>T	uc004ddl.2	+	0	371	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	107										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTTTTCCAAGCTCTCGCCAGC	0.532000														33			29		0	0	0.007291	0	0
KIAA1549	57670	broad.mit.edu	37	7	138555992	138555992	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:138555992G>A	uc011kql.2	-	12	4511	c.4462C>T	c.(4462-4464)Ctt>Ttt	p.L1488F	KIAA1549_uc011kqi.2_Missense_Mutation_p.L272F|KIAA1549_uc011kqk.2_Missense_Mutation_p.L272F|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1488F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1488						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGGCGATAAGCTGGATCTTA	0.602000			O	BRAF	pilocytic astrocytoma									35			17		0	0	0.004990	0	0
LPO	4025	broad.mit.edu	37	17	56345158	56345158	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:56345158G>A	uc002ivt.3	+	12	2258	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	LPO_uc010wns.2_Missense_Mutation_p.E589K|LPO_uc010dcp.3_Missense_Mutation_p.E565K|LPO_uc010dcq.3_Missense_Mutation_p.E319K|LPO_uc010dcr.3_Missense_Mutation_p.E211K	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	648					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GTTCTGGTGGGAAAACCCTGG	0.567000														21			18		0	0	0.001523	0	0
TSGA10	80705	broad.mit.edu	37	2	99695147	99695147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:99695147G>A	uc002szg.4	-	9	1485	c.857C>T	c.(856-858)tCc>tTc	p.S286F	TSGA10_uc002szh.4_Missense_Mutation_p.S286F|TSGA10_uc002szi.4_Missense_Mutation_p.S286F|TSGA10_uc010fin.1_Missense_Mutation_p.S286F|TSGA10_uc010yvn.1_Missense_Mutation_p.S286F	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	286					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCTCCAAGGGATGCAATATT	0.353000														22			10		0	0	0.001855	0	0
MYH1	4619	broad.mit.edu	37	17	10399641	10399641	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10399641C>T	uc002gmo.3	-	33	4976	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1628						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						ATTTCCATTTCATTGAGGTCT	0.498000														49			41		0	0	0.008740	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735873	55735873	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:55735873A>C	uc010rit.2	-	0	67	c.67T>G	c.(67-69)Tta>Gta	p.L23V		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TACATAAGTAAAAATATACTA	0.323000														10			16		0	0	0.004007	0	0
CXorf22	170063	broad.mit.edu	37	X	35944275	35944275	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:35944275C>T	uc004ddj.3	+	1	457	c.391C>T	c.(391-393)Cct>Tct	p.P131S	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	131										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGAAATTCCTCTAATTGG	0.318000														17			3		0	0	0.004672	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490926	141490926	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141490926C>T	uc003vwr.1	+	0	910	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	255					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CCAGTGTCTTCATCTGGGAGA	0.488000														78			44		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219870227	219870228	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219870227_219870228GG>AT	uc002vjl.1	-	31	5063_5064	c.4979_4980CC>AT	c.(4978-4980)tcc>tAT	p.S1660Y		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1660						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTGTTAGGGGATTTTTCCTC	0.550000														26			20		0	0	0.004672	0	0
SHE	126669	broad.mit.edu	37	1	154459014	154459014	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:154459014C>T	uc001ffb.3	-	3	1194	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	390										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGCTTCTCCAGGGGCAGGC	0.572000														82			11		0	0	0.001368	0	0
PRB2	653247	broad.mit.edu	37	12	11545984	11545984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:11545984C>T	uc010shk.1	-	2	1063	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G343E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.597000														62			60		0	0	0.003610	0	0
KIF17	57576	broad.mit.edu	37	1	21014191	21014191	+	Missense_Mutation	SNP	G	A	A	rs140327262		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:21014191G>A	uc001bdr.4	-	7	1746	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Missense_Mutation_p.S543L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	543					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCTTCGAGCGAGGATGACTC	0.572000														31			14		0	0	0.002450	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368316	86368316	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:86368316C>T	uc001vll.1	-	1	2787	c.2328G>A	c.(2326-2328)agG>agA	p.R776R	SLITRK6_uc021rla.1_Silent_p.R776R	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	776						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAATGTTTTTCCTTAGGTATT	0.413000														35			34		0	0	0.003271	0	0
OPRK1	4986	broad.mit.edu	37	8	54141976	54141976	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:54141976G>A	uc003xrh.1	-	2	1399	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	OPRK1_uc022aup.1_Missense_Mutation_p.R222W|OPRK1_uc003xri.1_Missense_Mutation_p.R342W|OPRK1_uc010lyc.1_Missense_Mutation_p.R253W	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	342					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R342L(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CAGAAGTCCCGGAAACACCGC	0.493000														14			6		0	0	0.001168	0	0
COL4A4	1286	broad.mit.edu	37	2	227979412	227979412	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:227979412C>T	uc021vxr.1	-	7	591	c.490_splice	c.e7-1	p.G164_splice	COL4A4_uc021vxs.1_Splice_Site_p.G164_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	164	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGATGGCCCTGAAAATAA	0.299000														25			8		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	14	106518850	106518850	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106518850C>T	uc021ser.1	-	2194		c.39204G>A								Parts of antibodies, mostly variable regions.																		AGCCCCAATTCCATGGTGAGT	0.498000														37			42		0	0	0.003610	0	0
EGLN2	112398	broad.mit.edu	37	19	41307069	41307069	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:41307069C>T	uc010ehd.3	+	7	1640	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	EGLN2_uc002opg.4_Silent_p.L198L|EGLN2_uc002oph.3_Silent_p.L198L|EGLN2_uc002opi.3_Silent_p.L198L	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	Homo sapiens egl nine homolog 2 (C. elegans) (EGLN2), transcript variant 3, mRNA.	198					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	L-ascorbic acid binding|ferrous iron binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGACAGCTTCCTGGGGGCAGC	0.692000														76			40		0	0	0.003214	0	0
NAA25	80018	broad.mit.edu	37	12	112467425	112467426	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:112467425_112467426CC>TT	uc001ttm.3	-	23	2886_2887	c.2828_2829GG>AA	c.(2827-2829)ggg>gAA	p.G943E	NAA25_uc001ttn.4_Non-coding_Transcript	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	943						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTGCACCTTCCCTTGCACAGT	0.386000														17			5		0	0	0.004672	0	0
FAM193A	8603	broad.mit.edu	37	4	2648459	2648459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:2648459C>T	uc010ick.3	+	5	939	c.938C>T	c.(937-939)aCc>aTc	p.T313I	FAM193A_uc003gfd.3_Missense_Mutation_p.T113I|FAM193A_uc011bvm.2_Missense_Mutation_p.T113I|FAM193A_uc011bvn.2_Missense_Mutation_p.T113I|FAM193A_uc010icl.3_Missense_Mutation_p.T113I|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	113										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACATACAGTACCTTGCTGCAG	0.567000														12			45		0	0	0.002852	0	0
FNBP4	23360	broad.mit.edu	37	11	47774550	47774550	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:47774550G>A	uc009ylv.3	-	3	708	c.555C>T	c.(553-555)acC>acT	p.T185T	FNBP4_uc001ngj.3_Silent_p.T92T|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	185										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAGAAGAAAGGGTAGATGTTG	0.493000														12			15		0	0	0.004007	0	0
NEBL	10529	broad.mit.edu	37	10	21169768	21169768	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:21169768G>A	uc001iqi.3	-	4	832	c.435C>T	c.(433-435)ccC>ccT	p.P145P	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	145					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAACCTCAGGGGGCTCCTTCA	0.403000														56			25		0	0	0.007291	0	0
RBM44	375316	broad.mit.edu	37	2	238726791	238726791	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:238726791C>T	uc002vxi.4	+	2	1364	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	410							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTAGATTTTTCTGCTATGCTA	0.388000														19			14		0	0	0.001855	0	0
PARD3B	117583	broad.mit.edu	37	2	206165332	206165332	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:206165332C>T	uc002var.2	+	16	2471	c.2264C>T	c.(2263-2265)gCc>gTc	p.A755V	PARD3B_uc010fub.2_Missense_Mutation_p.A755V|PARD3B_uc002vao.2_Missense_Mutation_p.A755V|PARD3B_uc002vap.2_Missense_Mutation_p.A693V|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	755					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTGCAGTGGCCGAGGTCAGG	0.522000														54			42		0	0	0.006999	0	0
LIMCH1	22998	broad.mit.edu	37	4	41678479	41678479	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:41678479G>A	uc003gvz.4	+	23	3936	c.3519_splice	c.e23+1	p.Q1173_splice	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Splice_Site_p.Q789_splice|LIMCH1_uc003gvv.4_Splice_Site_p.Q789_splice|LIMCH1_uc003gvw.4_Splice_Site_p.Q788_splice|LIMCH1_uc003gvx.4_Splice_Site_p.Q801_splice|LIMCH1_uc003gvy.4_Splice_Site_p.Q617_splice|LIMCH1_uc003gwa.4_Splice_Site_p.Q629_splice|LIMCH1_uc011byu.2_Splice_Site_p.Q622_splice|LIMCH1_uc003gwc.4_Splice_Site_p.Q634_splice|LIMCH1_uc003gwd.4_Splice_Site_p.Q622_splice|LIMCH1_uc011byv.2_Splice_Site_p.Q539_splice|LIMCH1_uc011byw.2_Splice_Site_p.Q88_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	789					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTTGCTCCAGGTAGGATGGA	0.423000														25			4		0	0	0.000602	0	0
CCNB3	85417	broad.mit.edu	37	X	50094635	50094635	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:50094635C>T	uc004dox.4	+	12	4419	c.4121C>T	c.(4120-4122)gCc>gTc	p.A1374V	CCNB3_uc004doy.3_Missense_Mutation_p.A1374V|CCNB3_uc004doz.3_Missense_Mutation_p.A270V|CCNB3_uc010njq.3_Missense_Mutation_p.A266V|CCNB3_uc004dpa.3_Missense_Mutation_p.A213V	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1374					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAATCCCTGCCTTGGATATG	0.483000														22			13		0	0	0.002450	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389469	150389469	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:150389469G>A	uc003who.3	+	2	183	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	32						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAAAACAGGAACTGGCAAA	0.498000														10			5		0	0	0.000602	0	0
FREM2	341640	broad.mit.edu	37	13	39343797	39343797	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:39343797C>T	uc001uwv.3	+	3	5802	c.5493C>T	c.(5491-5493)ggC>ggT	p.G1831G	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1831	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAACCCAGGCCAGACCAGGG	0.507000														14			11		0	0	0.000978	0	0
IGSF10	285313	broad.mit.edu	37	3	151171355	151171355	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:151171355A>G	uc011bod.2	-	2	532	c.532T>C	c.(532-534)Tac>Cac	p.Y178H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	178					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCTGGAGGTAGCTCAAAGAG	0.438000														21			6		0	0	0.001984	0	0
OVGP1	5016	broad.mit.edu	37	1	111963999	111963999	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:111963999G>A	uc001eba.3	-	7	858	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	OVGP1_uc001eaz.3_Missense_Mutation_p.R230C|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	268					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGAGGAGGCGAAAGGTACGT	0.502000														18			40		0	0	0.008740	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:130762527G>A	uc003qcb.3	+	1	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	320						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)		GTAGGTCAAGGAATTTGTCAA	0.428000														9			12		0	0	0.000978	0	0
SEPN1	57190	broad.mit.edu	37	1	26131722	26131722	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:26131722C>T	uc021ojk.1	+	3	548	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SEPN1_uc021ojl.1_Silent_p.L131L	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	165						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCAGCCTCTGCTCCCGGA	0.592000														35			16		0	0	0.004990	0	0
CARD10	29775	broad.mit.edu	37	22	37914095	37914095	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:37914095G>C	uc003asx.1	-	1	273	c.256C>G	c.(256-258)Cgc>Ggc	p.R86G	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asy.1_Missense_Mutation_p.R86G	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	86	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCACGGCAGCGCAAGATGTCC	0.642000														21			21		0	0	0.003954	0	0
ZNF569	148266	broad.mit.edu	37	19	37905286	37905286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37905286G>A	uc002ogj.3	-	8	1278	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Nonsense_Mutation_p.Q92*	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q116P(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTCTGTCCTGGTTTTTCTGA	0.308000														28			20		0	0	0.008871	0	0
HERC2	8924	broad.mit.edu	37	15	28491205	28491205	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:28491205G>A	uc001zbj.3	-	22	3505	c.3399C>T	c.(3397-3399)ctC>ctT	p.L1133L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1133					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTCTGGAAGGAGAACACCTA	0.368000														17			8		0	0	0.000978	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090351	115090351	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:115090351C>T	uc001vuv.3	+	2	1366	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	CHAMP1_uc010tko.2_Missense_Mutation_p.P345L|CHAMP1_uc010ahb.3_Missense_Mutation_p.P345L|CHAMP1_uc021rmx.1_Missense_Mutation_p.P345L	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	345	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TCTGTGTCTCCTGGACCTTGG	0.517000														43			12		0	0	0.001368	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497973	20497973	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:20497973G>A	uc010bwe.3	+	14	1946	c.1707G>A	c.(1705-1707)aaG>aaA	p.K569K	ACSM2A_uc002dhf.4_Silent_p.K569K|ACSM2A_uc002dhg.4_Silent_p.K569K|ACSM2A_uc010vay.2_Silent_p.K490K|ACSM2A_uc002dhh.4_Silent_p.K199K|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	569					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGGAGTGGAAGATGTCCGGAA	0.468000														64			51		0	0	0.003610	0	0
GABRA4	2557	broad.mit.edu	37	4	46994956	46994956	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:46994956C>T	uc003gxg.3	-	1	1077	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	GABRA4_uc021xnz.1_Missense_Mutation_p.E13K|GABRA4_uc021xoa.1_Missense_Mutation_p.E13K	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTGGGGATTCGTTTAAACTG	0.448000														19			15		0	0	0.003163	0	0
PFAS	5198	broad.mit.edu	37	17	8172023	8172023	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:8172023C>T	uc002gkr.3	+	26	3696	c.3555C>T	c.(3553-3555)tcC>tcT	p.S1185S	PFAS_uc010vuv.2_Silent_p.S761S|PFAS_uc002gks.3_Silent_p.S264S	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1185	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCCTGACTCCCAGCCAGCCC	0.672000														29			16		0	0	0.003163	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:183756374G>A	uc011bqv.2	+	6	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_uc003fmj.3_Missense_Mutation_p.G191E|HTR3D_uc011bqu.2_Missense_Mutation_p.G316E|HTR3D_uc010hxp.3_Missense_Mutation_p.G145E	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000														14			4		0	0	0.000248	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283601	40283601	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:40283601G>A	uc003ayg.3	-	1	403	c.152C>T	c.(151-153)tCa>tTa	p.S51L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	51	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATAATCTCTGAGAGAGAAAT	0.418000														46			30		0	0	0.002836	0	0
CNGA3	1261	broad.mit.edu	37	2	99008427	99008427	+	Missense_Mutation	SNP	C	T	T	rs138958917		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:99008427C>T	uc010fij.3	+	6	820	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	CNGA3_uc002syt.3_Missense_Mutation_p.R223W|CNGA3_uc002syu.3_Missense_Mutation_p.R205W			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	223					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGTACGAGCTCGGACAGGTGA	0.602000														16			20		0	0	0.002299	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794271	140794271	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140794271C>T	uc003lkl.2	+	0	1529	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.S510F|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATACATATCCATCAACTCA	0.527000														68			40		0	0	0.006230	0	0
OPTC	26254	broad.mit.edu	37	1	203472695	203472695	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:203472695C>T	uc001gzu.1	+	6	962	c.846C>T	c.(844-846)acC>acT	p.T282T		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	282						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGATAGAGACCATGCAGAGAG	0.557000														49			19		0	0	0.001523	0	0
HLX	3142	broad.mit.edu	37	1	221057727	221057728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:221057727_221057728CC>TT	uc001hmv.4	+	3	1605_1606	c.1148_1149CC>TT	c.(1147-1149)tcc>tTT	p.S383F		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	383	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E382*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GACTCCGAGTCCCTGGACATGG	0.639000														29			16		0	0	0.004672	0	0
BCL10	8915	broad.mit.edu	37	1	85733512	85733512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:85733512G>A	uc021opd.1	-	2	1052	c.500C>T	c.(499-501)tCt>tTt	p.S167F		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	167					T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AGAATTAGTAGAAAAAAAGGG	0.443000			T	IGH@	MALT									23			9		0	0	0.008291	0	0
NFU1	27247	broad.mit.edu	37	2	69650786	69650787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:69650786_69650787CC>TT	uc002sfk.3	-	2	435_436	c.229_230GG>AA	c.(229-231)gga>AAa	p.G77K	NFU1_uc002sfl.3_Intron|NFU1_uc002sfm.3_Intron|NFU1_uc010fdi.3_Intron|NFU1_uc002sfj.3_Missense_Mutation_p.G53K|NFU1_uc002sfn.2_Missense_Mutation_p.G77K	NM_001002755	NP_001002755	Q9UMS0	NFU1_HUMAN	Homo sapiens NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) (NFU1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	77					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AACTGGTTTTCCTGGTATAAAC	0.366000														12			6		0	0	0.004672	0	0
OR9K2	441639	broad.mit.edu	37	12	55523903	55523903	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55523903C>T	uc010spe.2	+	0	351	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I117I(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACAAGTCTATCTCCTTTGCAG	0.448000														36			19		0	0	0.001523	0	0
GLDN	342035	broad.mit.edu	37	15	51689759	51689759	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:51689759C>T	uc002aba.3	+	5	950	c.781C>T	c.(781-783)Cct>Tct	p.P261S	GLDN_uc002abb.3_Missense_Mutation_p.P137S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	261	Pro-rich.				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)		AGCCAAAGGCCCTCGGCAGCC	0.637000														28			11		0	0	0.008291	0	0
FAM83B	222584	broad.mit.edu	37	6	54804969	54804969	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:54804969C>T	uc003pck.3	+	4	1316	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	400										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCATACCTCCTGCTTAATA	0.443000														43			22		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179597199	179597199	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179597199C>T	uc021vsy.1	-	52	13082	c.12857G>A	c.(12856-12858)gGg>gAg	p.G4286E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G947E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5213							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4286T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATTCCACCCCTCCAGCGAC	0.383000														28			17		0	0	0.004007	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407826	105407826	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:105407826T>C	uc010axc.1	-	6	14082	c.13962A>G	c.(13960-13962)ggA>ggG	p.G4654G	AHNAK2_uc021sen.1_Silent_p.G51G|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.G4554G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4654						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGTAACATTTCCTTCGATTT	0.428000														19			18		0	0	0.006122	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239695	65239696	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65239695_65239696CC>TT	uc002aoa.3	+	12	1262_1263	c.1233_1234CC>TT	c.(1231-1236)ctccgt>ctTTgt	p.R412C	ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.R289C	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	412					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CACAGCAGCTCCGTTCTGTGCT	0.584000														20			7		0	0	0.004672	0	0
HINFP	25988	broad.mit.edu	37	11	119001629	119001629	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:119001629C>T	uc001pvp.3	+	3	620	c.376C>T	c.(376-378)Cct>Tct	p.P126S	HINFP_uc010rzb.2_Missense_Mutation_p.P126S|HINFP_uc021qrj.1_Missense_Mutation_p.P126S|HINFP_uc001pvq.3_Missense_Mutation_p.P126S|HINFP_uc001pvr.3_5'Flank	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	126					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCTGATATCCCTGACCACTT	0.582000														6			22		0	0	0.002299	0	0
CRISP2	7180	broad.mit.edu	37	6	49660530	49660530	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:49660530C>T	uc003ozn.2	-	9	924	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CRISP2_uc003ozr.2_Missense_Mutation_p.E230K|CRISP2_uc003ozo.2_Missense_Mutation_p.E230K|CRISP2_uc003ozm.2_Missense_Mutation_p.E265K|CRISP2_uc003ozp.2_Missense_Mutation_p.E230K|CRISP2_uc003ozq.2_Missense_Mutation_p.E230K|CRISP2_uc003ozl.2_Missense_Mutation_p.E230K	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	230						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCACTTTTCCTTGAGTAAC	0.393000														24			23		0	0	0.003330	0	0
CFH	3075	broad.mit.edu	37	1	196683013	196683013	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:196683013G>A	uc001gtj.4	+	9	1725	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	495	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACATGTGGGAAAGATGGAT	0.333000														24			25		0	0	0.007291	0	0
ACO2	50	broad.mit.edu	37	22	41913580	41913580	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:41913580C>T	uc003bac.3	+	6	907	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	295					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCACCACTTCCGTGTTCCCTT	0.622000											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			12		0	0	0.001368	0	0
TET3	200424	broad.mit.edu	37	2	74274556	74274557	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:74274556_74274557CC>TT	uc002skb.4	+	0	1107_1108	c.1107_1108CC>TT	c.(1105-1110)tcccct>tcTTct	p.P370S	TET3_uc010fez.2_Missense_Mutation_p.P370S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	370							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGCCCCATCCCCTGTACTTCA	0.653000														9			9		0	0	0.004672	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000														24			4		0	0	0.000602	0	0
EYA2	2139	broad.mit.edu	37	20	45725732	45725732	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:45725732C>T	uc002xsm.3	+	8	1187	c.813C>T	c.(811-813)ttC>ttT	p.F271F	EYA2_uc010ghp.3_Silent_p.F271F|EYA2_uc002xsq.3_Silent_p.F271F	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	271					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.V270V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGCGTGTGTTCGTGTGGGACT	0.423000														38			46		0	0	0.003610	0	0
CCKBR	887	broad.mit.edu	37	11	6292458	6292458	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:6292458T>A	uc001mcp.3	+	4	1284	c.1029T>A	c.(1027-1029)ttT>ttA	p.F343L	CCKBR_uc001mcq.3_Missense_Mutation_p.F271L|CCKBR_uc001mcr.3_Missense_Mutation_p.F343L|CCKBR_uc001mcs.3_Missense_Mutation_p.F412L|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	343					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCTTTTTTTTCTGTGTTGGT	0.597000														10			22		0	0	0.001882	0	0
KIF15	56992	broad.mit.edu	37	3	44881882	44881882	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:44881882G>A	uc003cnx.4	+	27	3503	c.3354G>A	c.(3352-3354)aaG>aaA	p.K1118K	KIF15_uc010hiq.3_Silent_p.K1021K|KIF15_uc010hir.3_Silent_p.K166K	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1118					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AACAGAAGAAGAATGAATATA	0.368000														15			25		0	0	0.006320	0	0
EYA4	2070	broad.mit.edu	37	6	133802709	133802709	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:133802709C>T	uc011ecs.2	+	11	1413	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	EYA4_uc011ecq.2_Missense_Mutation_p.P306L|EYA4_uc011ecr.2_Missense_Mutation_p.P312L|EYA4_uc003qec.4_Missense_Mutation_p.P360L|EYA4_uc003qed.4_Missense_Mutation_p.P360L|EYA4_uc003qee.4_Missense_Mutation_p.P337L|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	360					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAAAATAATCCCTCCCCGCCT	0.448000														16			34		0	0	0.006230	0	0
ERBB4	2066	broad.mit.edu	37	2	212587137	212587137	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:212587137G>A	uc002veg.1	-	6	962	c.864C>T	c.(862-864)ttC>ttT	p.F288F	ERBB4_uc002veh.1_Silent_p.F288F|ERBB4_uc010zji.1_Silent_p.F288F|ERBB4_uc010zjj.1_Silent_p.F288F|ERBB4_uc010fut.1_Silent_p.F288F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	288	Cys-rich.				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)		TCTTGACACAGAATGCTCCAT	0.338000										TSP Lung(8;0.080)				21			9		0	0	0.008291	0	0
GNAI2	2771	broad.mit.edu	37	3	50293650	50293650	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:50293650C>T	uc003cyq.1	+	4	612	c.491C>T	c.(490-492)gCa>gTa	p.A164V	GNAI2_uc003cyo.1_Missense_Mutation_p.A148V|GNAI2_uc003cyp.1_Missense_Mutation_p.A148V|GNAI2_uc010hlg.1_Missense_Mutation_p.A83V|GNAI2_uc011bdn.2_Missense_Mutation_p.A127V|GNAI2_uc003cyr.1_Missense_Mutation_p.A83V	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	164					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAGCGTATTGCACAGAGTGAC	0.597000														18			8		0	0	0.003080	0	0
CGNL1	84952	broad.mit.edu	37	15	57731779	57731779	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:57731779C>T	uc010bfw.3	+	2	1775	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	CGNL1_uc002aeg.3_Missense_Mutation_p.P528S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	528	Head.					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)		GAAGACATTTCCTTCGGCCTC	0.453000														16			10		0	0	0.006214	0	0
OR8B12	219858	broad.mit.edu	37	11	124412706	124412706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:124412706G>A	uc010sam.2	-	0	845	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTTTAACACGGGGACTATTAT	0.428000														8			11		0	0	0.002450	0	0
GOLT1A	127845	broad.mit.edu	37	1	204172104	204172104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:204172104C>T	uc001has.1	-	1	223	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	GOLT1A_uc001hat.1_Missense_Mutation_p.G13R	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	13					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CCGGTGATCCCCACACCAATC	0.567000														14			25		0	0	0.003954	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261429	21261430	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:21261429_21261430CC>TT	uc010bwp.1	+	1	585_586	c.542_543CC>TT	c.(541-543)tcc>tTT	p.S181F	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	181								p.S181S(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GGTACCTTCTCCAGATCATCCC	0.465000														33			18		0	0	0.004672	0	0
VIPR1	7433	broad.mit.edu	37	3	42576497	42576497	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:42576497C>T	uc003clf.2	+	10	1165	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	VIPR1_uc021wwl.1_Silent_p.I306I|VIPR1_uc011azn.2_Silent_p.I320I|VIPR1_uc011azl.1_Silent_p.I299I|VIPR1_uc011azm.1_Silent_p.I137I|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	347					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.L346L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCTGCTGATCCCCCTGTTTG	0.527000														41			7		0	0	0.001984	0	0
GRAMD4	23151	broad.mit.edu	37	22	47064595	47064596	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:47064595_47064596GG>AA	uc003bhx.3	+	10	989_990	c.940_941GG>AA	c.(940-942)ggg>AAg	p.G314K	GRAMD4_uc010had.3_Missense_Mutation_p.G253K	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	314					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAACCTTTTCGGGAAGATGGCT	0.649000														102			43		0	0	0.004672	0	0
FAM47C	442444	broad.mit.edu	37	X	37028267	37028268	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37028267_37028268CC>TT	uc004ddl.2	+	0	1836_1837	c.1784_1785CC>TT	c.(1783-1785)ccc>cTT	p.P595L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	595										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCAGTCTCCCCCCGGAGCCCC	0.649000														28			4		0	0	0.004672	0	0
CHD5	26038	broad.mit.edu	37	1	6188969	6188969	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:6188969G>A	uc001amb.2	-	22	3659	c.3548C>T	c.(3547-3549)tCc>tTc	p.S1183F	CHD5_uc001alz.2_Missense_Mutation_p.S40F|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1183	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGGTCATGGACCCCGACTT	0.652000														24			12		0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71753380	71753380	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:71753380G>A	uc010fen.3	+	12	1321	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	DYSF_uc010fei.3_Missense_Mutation_p.E393K|DYSF_uc010feh.3_Missense_Mutation_p.E362K|DYSF_uc002sig.4_Missense_Mutation_p.E362K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E393K|DYSF_uc010fee.3_Missense_Mutation_p.E362K|DYSF_uc010fef.3_Missense_Mutation_p.E393K|DYSF_uc002sie.3_Missense_Mutation_p.E362K|DYSF_uc010feo.3_Missense_Mutation_p.E394K|DYSF_uc010fej.3_Missense_Mutation_p.E363K|DYSF_uc010fel.3_Missense_Mutation_p.E363K|DYSF_uc010fem.3_Missense_Mutation_p.E363K|DYSF_uc002sif.3_Missense_Mutation_p.E363K|DYSF_uc010fek.3_Missense_Mutation_p.E394K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	362	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGACAAGGAGGACATTGA	0.537000														99			67		0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54860014	54860014	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:54860014G>A	uc021smr.1	+	27	5969	c.5969G>A	c.(5968-5970)gGa>gAa	p.G1990E	UNC13C_uc021sms.1_Missense_Mutation_p.G1992E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1992	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCATGCAGGAGGAAATGGC	0.363000														5			5		0	0	0.000602	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374038	37374039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:37374038_37374039GG>AA	uc010ynh.2	-	3	754_755	c.197_198CC>TT	c.(196-198)gcc>gTT	p.A66V	EIF2AK2_uc010fab.2_Missense_Mutation_p.A66V|EIF2AK2_uc010yng.2_Missense_Mutation_p.A66V|EIF2AK2_uc010fac.3_Missense_Mutation_p.A66V|EIF2AK2_uc010fad.2_Missense_Mutation_p.A66V	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	66	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ATTTGGCTGCGGCATTTTTTGC	0.332000														30			11		0	0	0.004672	0	0
COQ7	10229	broad.mit.edu	37	16	19083279	19083279	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19083279C>T	uc002dfr.3	+	1	173	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	COQ7_uc021tee.1_5'UTR|COQ7_uc002dfs.3_Missense_Mutation_p.R21C	NM_016138	NP_001177912	Q99807	COQ7_HUMAN	Homo sapiens coenzyme Q7 homolog, ubiquinone (yeast) (COQ7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TGTCAGATTTCGCAGTTCAGG	0.428000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			34		0	0	0.004878	0	0
TSIX	9383	broad.mit.edu	37	X	73043857	73043857	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73043857G>A	uc004ebn.2	+	0		c.31818G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTTCAATAATGATAATAAATG	0.333000														5			8		0	0	0.003080	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841613	208841613	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:208841613G>A	uc002vcl.2	-	2	1798	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	PLEKHM3_uc002vcm.2_Silent_p.L436L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	436	PH 2.				intracellular signal transduction		metal ion binding	p.L436L(3)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCAGCTCGGAGGCGAAGGA	0.547000														25			17		0	0	0.004990	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001263	13001263	+	Silent	SNP	C	T	T	rs150586267		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:13001263C>T	uc001auq.2	-	2	506	c.420G>A	c.(418-420)agG>agA	p.R140R	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	140								p.P139Q(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTCTCATCCTTGGACAGT	0.507000														211			86		0	0	0.003610	0	0
KLHL1	57626	broad.mit.edu	37	13	70681625	70681625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:70681625C>T	uc001vip.3	-	0	1001	c.207G>A	c.(205-207)tgG>tgA	p.W69*	KLHL1_uc010thm.2_Nonsense_Mutation_p.W69*|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	69	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		aagGCTTCTTCCAGAAAGTGC	0.587000														30			8		0	0	0.003080	0	0
PRSS37	136242	broad.mit.edu	37	7	141540847	141540847	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141540847C>T	uc003vws.2	-	0	375	c.3G>A	c.(1-3)atG>atA	p.M1I	PRSS37_uc011krl.2_Missense_Mutation_p.M1I|PRSS37_uc011krk.2_5'UTR|PRSS37_uc003vwt.2_5'UTR	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	1					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGACATATTTCATGGTGATCC	0.483000														29			21		0	0	0.003330	0	0
PCSK5	5125	broad.mit.edu	37	9	78804140	78804140	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:78804140G>A	uc004akc.2	+	19	3048	c.2510_splice	c.e19+1	p.K837_splice	PCSK5_uc004ajz.3_Splice_Site_p.K837_splice|PCSK5_uc004aka.3_Splice_Site|PCSK5_uc004akb.3_Splice_Site_p.K111_splice	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	837	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCTGCAAAAAGTAAGTGGATC	0.403000														28			27		0	0	0.007291	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839204	93839204	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:93839204G>A	uc001pep.2	+	16	3110	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	985	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATAATGAACGAAGATACAAT	0.338000														5			11		0	0	0.001368	0	0
TPSG1	25823	broad.mit.edu	37	16	1272209	1272209	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1272209C>T	uc002ckw.2	-	4	646	c.644G>A	c.(643-645)gGg>gAg	p.G215E		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	215	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GCAGGCATCCCCGGGGCCCCG	0.692000														27			19		0	0	0.006122	0	0
NBPF1	55672	broad.mit.edu	37	1	16893737	16893737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:16893737G>A	uc009vos.1	-	24	3664	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S	NBPF1_uc009vot.1_Missense_Mutation_p.P384S|NBPF1_uc001ayz.1_Missense_Mutation_p.P384S|NBPF1_uc010oce.1_Missense_Mutation_p.P655S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	926	NBPF 5.					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)		CTTCTGTAGGGCTGGCATGAG	0.478000														782			26		0	0	0.005443	0	0
PTPN14	5784	broad.mit.edu	37	1	214556954	214556954	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:214556954G>A	uc001hkk.2	-	12	2897	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P	PTPN14_uc021piy.1_Silent_p.P512P|PTPN14_uc010pty.2_Silent_p.P649P	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	748					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACTCAGGCGGGGGCTTGTTGG	0.657000														49			18		0	0	0.006122	0	0
CHODL	140578	broad.mit.edu	37	21	19629303	19629303	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:19629303G>A	uc002ykv.3	+	2	797	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	CHODL_uc002ykr.3_Missense_Mutation_p.E95K|CHODL_uc002yks.3_Missense_Mutation_p.E95K|CHODL_uc021whr.1_Missense_Mutation_p.E95K|CHODL_uc002ykt.3_Missense_Mutation_p.E95K|CHODL_uc002yku.3_Missense_Mutation_p.E95K|CHODL_uc021whs.1_Missense_Mutation_p.E117K	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	136	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.E136*(2)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GTACACAGATGAACCTTCCTG	0.463000														34			5		0	0	0.001168	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449693	91449693	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:91449693C>T	uc010bnz.2	+	5	916	c.801C>T	c.(799-801)ctC>ctT	p.L267L	MAN2A2_uc010boa.3_Silent_p.L309L|MAN2A2_uc002bqc.3_Silent_p.L267L|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	267					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGACCAGCTCATCGAAGGAC	0.577000														179			116		0	0	0.003610	0	0
MUC3A	4584	broad.mit.edu	37	7	100551602	100551602	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:100551602C>T	uc003uxl.1	+	0	853	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAATCAGTTCCTTTAGCACA	0.493000														166			90		0	0	0.003610	0	0
KCND1	3750	broad.mit.edu	37	X	48823477	48823477	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48823477C>T	uc004dlx.1	-	1	2731	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	KCND1_uc004dlw.1_Silent_p.K9K	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	386						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACCCGAAAATCTTGCCAGCAA	0.572000														19			8		0	0	0.006214	0	0
LGI1	9211	broad.mit.edu	37	10	95556941	95556941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95556941C>T	uc001kjc.4	+	7	1391	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.S304L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	352					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GCTGACAGTTCAAAAGCTGGT	0.373000														24			12		0	0	0.001368	0	0
WDR1	9948	broad.mit.edu	37	4	10117765	10117765	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:10117765C>T	uc021xlv.1	-	1	393	c.110G>A	c.(109-111)gGa>gAa	p.G37E	WDR1_uc021xlw.1_Missense_Mutation_p.G37E|5S_rRNA_uc021xlz.1_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	37					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GACGCACTTTCCATTGGTGTA	0.592000														10			13		0	0	0.001855	0	0
CASS4	57091	broad.mit.edu	37	20	55027160	55027160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:55027160C>T	uc002xxp.2	+	5	1153	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CASS4_uc002xxq.4_Missense_Mutation_p.P310S|CASS4_uc010zze.1_Missense_Mutation_p.P256S|CASS4_uc002xxr.2_Missense_Mutation_p.P310S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	310					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCCAGAAATTCCTTCTTATGG	0.463000														15			25		0	0	0.003330	0	0
TPTE	7179	broad.mit.edu	37	21	10921986	10921986	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:10921986C>T	uc002yip.1	-	17	1405	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G328E|TPTE_uc002yir.1_Missense_Mutation_p.G308E|TPTE_uc010gkv.1_Missense_Mutation_p.G208E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACCATAGTTCCTGTTCTATC	0.328000														37			5		0	0	0.001168	0	0
OR7A10	390892	broad.mit.edu	37	19	14952173	14952173	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:14952173C>T	uc002mzx.1	-	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGGGATTTCCATGTGTGTA	0.433000														31			9		0	0	0.004482	0	0
ZNF573	126231	broad.mit.edu	37	19	38230610	38230610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38230610G>A	uc002ohe.3	-	4	850	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	ZNF573_uc010efs.2_Missense_Mutation_p.L174F|ZNF573_uc002ohd.3_Missense_Mutation_p.L259F|ZNF573_uc002ohf.3_Missense_Mutation_p.L203F|ZNF573_uc002ohg.3_Missense_Mutation_p.L173F|ZNF573_uc021utv.1_Missense_Mutation_p.L173F	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGAATTCTAAGATGTCCACCT	0.423000														32			22		0	0	0.002780	0	0
ZNF366	167465	broad.mit.edu	37	5	71756150	71756150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:71756150G>A	uc003kce.1	-	1	1360	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGTTGTACTGGATGGGGCCC	0.612000														22			8		0	0	0.006214	0	0
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248486965C>T	uc010pzk.2	-	0	906	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTAAGATTTTCATTAATGCTC	0.403000														28			11		0	0	0.001368	0	0
ENAM	10117	broad.mit.edu	37	4	71509927	71509927	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:71509927C>T	uc011caw.1	+	8	3065	c.2784C>T	c.(2782-2784)atC>atT	p.I928I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	928					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAACAAGCATCCTACCAGGCC	0.478000														36			10		0	0	0.008291	0	0
FAM9C	171484	broad.mit.edu	37	X	13057999	13057999	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:13057999C>T	uc004cvh.2	-	5	693	c.366G>A	c.(364-366)ccG>ccA	p.P122P	FAM9C_uc004cvg.3_Silent_p.P122P	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA.	122						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CAAGGACATTCGGCAACTTCA	0.363000														48			18		0	0	0.002299	0	0
HCFC1	3054	broad.mit.edu	37	X	153224842	153224842	+	Silent	SNP	G	A	A	rs114030669	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153224842G>A	uc004fjp.3	-	8	2073	c.1545C>T	c.(1543-1545)acC>acT	p.T515T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	515					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGTCACGGTGACAGGGG	0.612000														42			27		0	0	0.006320	0	0
ASTN2	23245	broad.mit.edu	37	9	119188351	119188351	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:119188351G>A	uc004bjt.2	-	21	3747	c.3646C>T	c.(3646-3648)Cta>Tta	p.L1216L	ASTN2_uc022bml.1_Silent_p.L912L|ASTN2_uc022bmm.1_Silent_p.L916L|ASTN2_uc004bjp.2_Silent_p.L368L|ASTN2_uc011lxr.2_Silent_p.L319L|ASTN2_uc011lxs.2_Silent_p.L319L|ASTN2_uc011lxt.2_Silent_p.L319L|ASTN2_uc004bjq.2_Silent_p.L319L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1267						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTCGCCGTAGAATCAGGTGG	0.512000														4			11		0	0	0.001368	0	0
SCN7A	6332	broad.mit.edu	37	2	167262832	167262832	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:167262832C>T	uc002udu.2	-	24	4437	c.4307G>A	c.(4306-4308)tGg>tAg	p.W1436*	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1436					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATCCCATCCCAACCAGCAAA	0.393000														92			40		0	0	0.002222	0	0
FHL3	2275	broad.mit.edu	37	1	38463360	38463360	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:38463360G>A	uc001cck.3	-	4	863	c.684C>T	c.(682-684)atC>atT	p.I228I	FHL3_uc001ccm.3_Silent_p.I120I	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	228	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCCACCTACGATGGGGCGCT	0.582000														31			21		0	0	0.002299	0	0
NUP210	23225	broad.mit.edu	37	3	13378289	13378289	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:13378289C>T	uc003bxv.1	-	26	3765	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1228					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)					TTACCTACCTCGTGGTGCCGC	0.647000														15			20		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	14	106967404	106967404	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106967404C>T	uc021ser.1	-	263		c.10096G>A								Parts of antibodies, mostly variable regions.																		TGGAAAAAATCCCTTCCTCAG	0.547000														23			20		0	0	0.001523	0	0
LILRB5	10990	broad.mit.edu	37	19	54754934	54754934	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54754934A>G	uc010yer.1	-	12	1812	c.1701T>C	c.(1699-1701)tcT>tcC	p.S567S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	368					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATTCCCCAGACAGTGGGG	0.592000														15			3		0	0	0.000602	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475556	140475556	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140475556C>T	uc003lil.3	+	0	1320	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	PCDHB2_uc003lim.1_Silent_p.F55F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	394	Cadherin 4.				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)			TTCCTTTTTTCTTGAAACCTT	0.493000														28			17		0	0	0.006122	0	0
CADPS	8618	broad.mit.edu	37	3	62423808	62423808	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:62423808C>T	uc003dll.2	-	27	4108	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	CADPS_uc003dlj.1_Missense_Mutation_p.E205K|CADPS_uc003dlk.1_Missense_Mutation_p.E698K|CADPS_uc003dlm.2_Missense_Mutation_p.E1211K|CADPS_uc003dln.2_Missense_Mutation_p.E1171K|CADPS_uc021wzv.1_Missense_Mutation_p.E1241K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1250	Mediates targeting and association with DCVs (By similarity).			E -> G (in Ref. 1; AAM61861 and 5; CAD38751).	exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E1211K(1)|p.E1250K(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TACATCTCCTCATTGACCTTA	0.453000														31			8		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13876829	13876829	+	Silent	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13876829A>T	uc003jfd.2	-	21	3402	c.3360T>A	c.(3358-3360)gtT>gtA	p.V1120V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1120	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)					TAAGCACAGAAACTAATTTTA	0.383000									Kartagener syndrome					26			11		0	0	0.008291	0	0
RBL1	5933	broad.mit.edu	37	20	35683995	35683995	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:35683995C>T	uc002xgi.3	-	10	1507	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	RBL1_uc002xgj.1_Missense_Mutation_p.M476I	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	476	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTTCCTGAACCATTACAGTCT	0.388000														25			17		0	0	0.006122	0	0
DNAH7	56171	broad.mit.edu	37	2	196825422	196825422	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196825422G>A	uc002utj.4	-	17	2554	c.2453C>T	c.(2452-2454)cCa>cTa	p.P818L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	818	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P818L(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATGCATATGGAGAATCATG	0.393000														52			33		0	0	0.001786	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922296	43922296	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:43922296C>T	uc010wka.2	+	0	41	c.24C>T	c.(22-24)ctC>ctT	p.L8L	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	8						integral to membrane	aspartic-type endopeptidase activity										GCTTCCTCCTCCCCGTGGGCT	0.627000														22			15		0	0	0.007413	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995461	140995461	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:140995461G>A	uc004fbt.3	+	3	2595	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.Q416Q	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	757							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCCCCAGAGTTTCCCTG	0.542000										HNSCC(15;0.026)				30			71		0	0	0.003610	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677772	219677772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219677772G>A	uc002viz.4	+	4	1404	c.970G>A	c.(970-972)Gag>Aag	p.E324K		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	324					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CAGTCCTCGGGAGGCCATGGG	0.637000														20			14		0	0	0.003163	0	0
L1CAM	3897	broad.mit.edu	37	X	153137769	153137769	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153137769C>G	uc004fjb.3	-	3	346	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	L1CAM_uc004fjc.3_Missense_Mutation_p.E80Q|L1CAM_uc010nuo.3_Missense_Mutation_p.E75Q|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.E75Q	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	80	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.K79N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCTCTTCCTTGGGTTTG	0.607000														23			5		0	0	0.001168	0	0
KCNS2	3788	broad.mit.edu	37	8	99440889	99440889	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:99440889G>A	uc003yin.3	+	1	1032	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	KCNS2_uc022azb.1_Missense_Mutation_p.E228K	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	228						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E228fs*9(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCTAGGTTCGAAATCGTGGA	0.547000														29			26		0	0	0.005443	0	0
OR6T1	219874	broad.mit.edu	37	11	123813961	123813961	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:123813961C>T	uc010sab.2	-	0	585	c.585G>A	c.(583-585)ctG>ctA	p.L195L		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCACCAGTTTCAGCAGGTGGG	0.547000														11			24		0	0	0.004656	0	0
PSMB10	5699	broad.mit.edu	37	16	67969926	67969926	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67969926G>T	uc002eux.2	-	3	451	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_002801	NP_002792	P40306	PSB10_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA.	108					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|humoral immune response|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCGGCCCGTAGATAACGCGTG	0.662000														22			22		8.10497e-08	9.63768e-08	0.001523	1	0
SELP	6403	broad.mit.edu	37	1	169580879	169580879	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169580879C>T	uc001ggi.4	-	6	1063	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SELP_uc001ggh.3_Missense_Mutation_p.G168E|SELP_uc009wvr.3_Missense_Mutation_p.G333E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	333	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.G333G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCATGGTTCCTTCACTGGG	0.517000														58			57		0	0	0.003610	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899269	52899269	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:52899269G>A	uc001wzs.3	-	20	2680	c.2231C>T	c.(2230-2232)cCa>cTa	p.P744L	TXNDC16_uc010tqu.2_Missense_Mutation_p.P739L|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	744					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATCATAAGCTGGAAGAGGAGG	0.378000														13			12		0	0	0.001855	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829206	31829206	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:31829206C>T	uc002wyt.4	+	5	667	c.597C>T	c.(595-597)ccC>ccT	p.P199P	BPIFA1_uc002wyu.4_Silent_p.P199P|BPIFA1_uc002wyv.3_Silent_p.P199P	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	199					innate immune response	extracellular region	lipid binding										GCCCCCTCCCCATTCAAGGTC	0.552000														86			128		0	0	0.003610	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299400	117299400	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:117299400T>A	uc001prh.1	-	32	5988	c.5986A>T	c.(5986-5988)Acc>Tcc	p.T1996S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1936	Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGTGGTAGGTTCGAGCCAGG	0.667000														7			9		0	0	0.006214	0	0
PPP1R21	129285	broad.mit.edu	37	2	48681813	48681813	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:48681813T>C	uc002rwm.3	+	2	391	c.206T>C	c.(205-207)cTt>cCt	p.L69P	PPP1R21_uc002rwi.1_Missense_Mutation_p.L69P|PPP1R21_uc002rwj.3_Missense_Mutation_p.L69P|PPP1R21_uc002rwl.3_Missense_Mutation_p.L23P|PPP1R21_uc002rwk.3_Missense_Mutation_p.L69P|PPP1R21_uc010yok.2_Missense_Mutation_p.L69P	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	69										endometrium(2)|kidney(4)|lung(9)	15						AATCTGCAGCTTGCCAAGAGG	0.398000														27			18		0	0	0.008871	0	0
ALPK2	115701	broad.mit.edu	37	18	56247653	56247653	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:56247653C>A	uc002lhj.4	-	3	569	c.355G>T	c.(355-357)Gat>Tat	p.D119Y		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	119							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCCTGTCATCTTCCAGGTTA	0.428000														115			19		1.50039e-11	1.7907e-11	0.001882	1	0
LOC401010	401010	broad.mit.edu	37	2	132201672	132201672	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:132201672G>A	uc002tst.2	-	0	796	c.330C>T	c.(328-330)tcC>tcT	p.S110S						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CTGCCACACAGGACACTAGCT	0.612000														9			6		0	0	0.001168	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862105	128862105	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:128862105G>A	uc003kvb.1	+	3	1024	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	342	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCCTATCATGGAGCAGATGC	0.393000														32			12		0	0	0.001368	0	0
PRSS38	339501	broad.mit.edu	37	1	228003849	228003849	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:228003849G>A	uc001hrh.3	+	1	207	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCCGAGAGGAAGTGGCCGT	0.667000														94			28		0	0	0.006320	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72197010	72197010	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:72197010C>A	uc001xms.3	+	17	5277	c.4916C>A	c.(4915-4917)tCg>tAg	p.S1639*	SIPA1L1_uc001xmt.3_Nonsense_Mutation_p.S1618*|SIPA1L1_uc001xmu.3_Nonsense_Mutation_p.S1618*|SIPA1L1_uc001xmv.3_Nonsense_Mutation_p.S1639*|SIPA1L1_uc010ttm.2_Nonsense_Mutation_p.S1093*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1639					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAATGAAATCGCTGCATGGT	0.567000														19			24		3.65163e-15	4.36891e-15	0.006320	1	0
TMEM45B	120224	broad.mit.edu	37	11	129725643	129725643	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:129725643G>A	uc001qfe.1	+	3	487	c.426G>A	c.(424-426)ctG>ctA	p.L142L	TMEM45B_uc001qff.1_Silent_p.L142L	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	142						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GGCCTCCGCTGGACCAGCACA	0.542000														21			23		0	0	0.002780	0	0
KIAA0240	23506	broad.mit.edu	37	6	42828037	42828037	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:42828037A>G	uc003osn.1	+	10	2443	c.2292A>G	c.(2290-2292)ctA>ctG	p.L764L	KIAA0240_uc011duw.1_Silent_p.L764L|KIAA0240_uc003osp.1_Silent_p.L764L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	764										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CTCAGCTCCTAAAAAGGACCC	0.378000														112			35		0	0	0.008740	0	0
FAM135B	51059	broad.mit.edu	37	8	139163864	139163864	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:139163864C>T	uc003yuy.3	-	12	3025	c.2854G>A	c.(2854-2856)Ggc>Agc	p.G952S	FAM135B_uc003yux.3_Missense_Mutation_p.G853S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G514S|FAM135B_uc003yvb.3_Missense_Mutation_p.G514S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	952										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTGCTGGCCTGTTGAGTTC	0.493000										HNSCC(54;0.14)				56			15		0	0	0.004007	0	0
NLRP12	91662	broad.mit.edu	37	19	54313799	54313799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54313799C>T	uc002qcj.4	-	2	1334	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E372K|NLRP12_uc002qci.4_Missense_Mutation_p.E372K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E372K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	372	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGAAGTATTCCTTCCTTTCT	0.557000														109			55		0	0	0.003610	0	0
RECQL	5965	broad.mit.edu	37	12	21636367	21636367	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:21636367G>C	uc001rex.3	-	6	991	c.643C>G	c.(643-645)Cga>Gga	p.R215G	RECQL_uc001rey.3_Missense_Mutation_p.R215G	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	215	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGCAATTCGAGTAAATCTC	0.383000								Other identified genes with known or suspected DNA repair function						17			19		0	0	0.001882	0	0
MIB1	57534	broad.mit.edu	37	18	19424197	19424197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:19424197G>A	uc002ktq.3	+	14	2194	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	MIB1_uc002ktp.3_Missense_Mutation_p.E371K	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	732					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTGCCTGGGAGCCATCCAA	0.438000														18			7		0	0	0.001984	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353924	77353924	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:77353924G>A	uc002ffc.4	-	15	2773	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S373F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S481F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S785S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTAACTGGAGGAAACCTGCAG	0.537000														40			15		0	0	0.003163	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032512	21032512	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:21032512C>T	uc010sil.2	+	8	1343	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	SLCO1B3_uc001rek.3_Silent_p.F426F|SLCO1B3_uc001rel.3_Silent_p.F426F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	426					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)					TTCTATATTTCCCTCTAATCT	0.313000														37			5		0	0	0.001984	0	0
MAP3K15	389840	broad.mit.edu	37	X	19416401	19416401	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:19416401C>T	uc022btq.1	-	14	2009	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	MAP3K15_uc004czj.2_Missense_Mutation_p.R105Q|MAP3K15_uc004czk.2_Missense_Mutation_p.R145Q	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	670	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.V670L(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTCAGATCTCGGCCAGCATA	0.502000														111			36		0	0	0.006230	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437383	110437383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110437383C>T	uc003yne.3	+	23	2871	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	923			H -> R (in dbSNP:rs4735133).		immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.K923I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAAAAATTCATATTCAAAG	0.318000										HNSCC(38;0.096)				10			4		0	0	0.000248	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:197404165G>A	uc001gtz.3	+	8	3381	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1058	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGACAACGAAACACCTTT	0.443000														56			27		0	0	0.007291	0	0
ANPEP	290	broad.mit.edu	37	15	90347601	90347601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:90347601C>T	uc002bop.4	-	5	1354	c.1062G>A	c.(1060-1062)atG>atA	p.M354I		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	354	Metalloprotease.|Substrate binding (By similarity).				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCCAGTTCTCCATGGCGCCGG	0.622000														22			25		0	0	0.003330	0	0
HERPUD2	64224	broad.mit.edu	37	7	35712846	35712846	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:35712846G>A	uc003tes.4	-	2	849	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	HERPUD2_uc003tet.3_Missense_Mutation_p.P64S	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	64	Ubiquitin-like.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGATGATCGGGAAGCAGTCTG	0.378000														20			21		0	0	0.002780	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063266	41063266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:41063266C>T	uc002ony.3	+	25	5713	c.5627C>T	c.(5626-5628)aCc>aTc	p.T1876I	SPTBN4_uc002onx.3_Missense_Mutation_p.T1876I|SPTBN4_uc002onz.3_Missense_Mutation_p.T1876I|SPTBN4_uc010egx.3_Missense_Mutation_p.T619I|SPTBN4_uc002ooa.3_Missense_Mutation_p.T552I	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1876					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCAGCGGACCCTGAGAGCC	0.682000														38			19		0	0	0.002780	0	0
PAK7	57144	broad.mit.edu	37	20	9543656	9543656	+	Missense_Mutation	SNP	C	T	T	rs140682624		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:9543656C>T	uc002wnl.2	-	6	2043	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	PAK7_uc002wnk.2_Missense_Mutation_p.D500N|PAK7_uc002wnj.2_Missense_Mutation_p.D500N|PAK7_uc010gby.1_Missense_Mutation_p.D500N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	500	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.D500N(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGTGGTAATCCCGCATGATC	0.458000														36			94		0	0	0.003610	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35932273	35932273	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35932273G>A	uc001byx.3	-	6	1395	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	KIAA0319L_uc010ohv.1_Silent_p.F21F|KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_3'UTR	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	379	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAATCACTTTGAATTCATACA	0.438000														36			19		0	0	0.002299	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654752	99654753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99654752_99654753GG>AA	uc003uso.3	+	1	267_268	c.123_124GG>AA	c.(121-126)ctggag>ctAAag	p.E42K	ZSCAN21_uc011kje.1_Missense_Mutation_p.E41K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E41K	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	42					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCCTAGCCTGGAGATGTTCCG	0.599000														47			32		0	0	0.004672	0	0
OR5M8	219484	broad.mit.edu	37	11	56257929	56257929	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:56257929C>T	uc001nix.1	-	0	918	c.918G>A	c.(916-918)atG>atA	p.M306I	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGTATATCTTCATTGACAGCT	0.299000														4			5		0	0	0.000602	0	0
TPTE	7179	broad.mit.edu	37	21	10996093	10996093	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:10996093C>T	uc002yis.1	-	11		c.2093G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTGGTTTTCCCTTGCCCAG	0.383000														24			12		0	0	0.000978	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670582	101670582	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:101670582G>A	uc010fiv.3	-	3	705	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	TBC1D8_uc010yvw.2_Silent_p.L207L|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	192	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCCTTGCCCAGGAAGAAGGAG	0.592000														10			10		0	0	0.001368	0	0
FTHL17	53940	broad.mit.edu	37	X	31089935	31089935	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:31089935C>T	uc004dcl.1	-	0	236	c.136G>A	c.(136-138)Gac>Aac	p.D46N		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	46	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGGCCACGTCGTCCCGGTTG	0.587000														53			10		0	0	0.000978	0	0
RIPK4	54101	broad.mit.edu	37	21	43171321	43171321	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:43171321A>G	uc002yzn.1	-	2	607	c.559T>C	c.(559-561)Tac>Cac	p.Y187H		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	187						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGGGAGGTAGGCGATTGTG	0.582000														27			25		0	0	0.003954	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090447	238090447	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:238090447C>T	uc010pyc.2	+	11		c.1953C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TGCTGCTGATCGAGGCCTGCC	0.577000														26			7		0	0	0.001984	0	0
LRRC30	339291	broad.mit.edu	37	18	7231687	7231688	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:7231687_7231688CC>TT	uc010wzk.2	+	0	551_552	c.551_552CC>TT	c.(550-552)tcc>tTT	p.S184F		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	184										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGTGTGTTCTCCCTGAAGGAAC	0.554000														20			55		0	0	0.004672	0	0
TMEM143	55260	broad.mit.edu	37	19	48863344	48863344	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:48863344G>A	uc002pix.1	-	2	363	c.354C>T	c.(352-354)atC>atT	p.I118I	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Silent_p.I118I|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzp.1_Silent_p.I118I|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	118						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCGGGCCAGGATTTGGTGGT	0.592000														34			19		0	0	0.008871	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525526	176525526	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:176525526A>G	uc001gkz.3	+	1	1232	c.68A>G	c.(67-69)aAc>aGc	p.N23S	PAPPA2_uc001gky.1_Missense_Mutation_p.N23S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	23					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.N23I(3)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTTCTGCCAACTCTGAGCTG	0.512000														81			27		0	0	0.004656	0	0
LPHN2	23266	broad.mit.edu	37	1	82433739	82433739	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:82433739C>T	uc001dit.4	+	12	2509	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.S776S|LPHN2_uc001div.3_Silent_p.S776S|LPHN2_uc009wcd.3_Silent_p.S776S|LPHN2_uc001diw.3_Silent_p.S360S|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	789					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAAACTGCTCCTTCTGGAACT	0.388000														31			12		0	0	0.002450	0	0
UMODL1	89766	broad.mit.edu	37	21	43531690	43531690	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:43531690G>A	uc002zag.1	+	10	2358	c.2358G>A	c.(2356-2358)tgG>tgA	p.W786*	UMODL1_uc002zad.1_Nonsense_Mutation_p.W586*|UMODL1_uc002zae.1_Nonsense_Mutation_p.W714*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.W658*	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	711	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTCCTGTGGCATGCCACCC	0.612000														23			7		0	0	0.001984	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128651	126128651	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:126128651G>A	uc001uhe.1	+	5	1460	c.1452G>A	c.(1450-1452)gtG>gtA	p.V484V	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	484						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATTTTTGTGAATGGGAAGG	0.468000														27			12		0	0	0.001855	0	0
SDK2	54549	broad.mit.edu	37	17	71394260	71394260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:71394260G>A	uc010dfm.3	-	23	3268	c.3268C>T	c.(3268-3270)Cag>Tag	p.Q1090*	SDK2_uc002jjt.4_Nonsense_Mutation_p.Q249*|SDK2_uc010dfn.2_Nonsense_Mutation_p.Q769*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1090					cell adhesion	integral to membrane		p.Q1090H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCAGGGTCTGGATCTTTCTA	0.627000														25			14		0	0	0.002450	0	0
KIF1B	23095	broad.mit.edu	37	1	10316325	10316325	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:10316325C>T	uc001aqx.4	+	2	329	c.127C>T	c.(127-129)Cca>Tca	p.P43S	KIF1B_uc001aqv.4_Missense_Mutation_p.P43S|KIF1B_uc001aqw.4_Missense_Mutation_p.P43S|KIF1B_uc001aqy.3_Missense_Mutation_p.P43S|KIF1B_uc001aqz.3_Missense_Mutation_p.P43S|KIF1B_uc001ara.3_Missense_Mutation_p.P43S|KIF1B_uc001arb.3_Missense_Mutation_p.P43S|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	43	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCAAAGAATCCAAAGGAAGC	0.388000														25			22		0	0	0.001523	0	0
NCKAP5	344148	broad.mit.edu	37	2	133531389	133531389	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:133531389C>T	uc002ttp.3	-	16	5502	c.5128_splice	c.e16+1	p.E1710_splice	NCKAP5_uc002ttq.3_Splice_Site_p.E391_splice	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1710							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATTTTTACCTATGATGTGG	0.368000														46			27		0	0	0.001786	0	0
AV1S4A1N1T	0	broad.mit.edu	37	14	22322620	22322620	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22322620C>T	uc001wcc.3	+	3	509	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 414.																		AGCACACTGTCTTCTACCTTT	0.403000														18			18		0	0	0.008871	0	0
GJB4	127534	broad.mit.edu	37	1	35227548	35227548	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35227548C>T	uc001bxw.4	+	0	693	c.693C>T	c.(691-693)ccC>ccT	p.P231P	GJB4_uc001bxv.1_Silent_p.P231P	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	231					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATGCCTACCCGATACGTGCC	0.622000														46			21		0	0	0.001882	0	0
LILRB5	10990	broad.mit.edu	37	19	54754776	54754776	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54754776G>A	uc010yer.1	-	12	1970	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P550P|LILRB5_uc002qez.3_Silent_p.P450P|LILRB5_uc002qex.3_Silent_p.P549P|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	0					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACATCCTGGGGGGCTTCAG	0.632000														25			26		0	0	0.007291	0	0
VPS41	27072	broad.mit.edu	37	7	38797964	38797964	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:38797964G>A	uc003tgy.3	-	17	1566	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	VPS41_uc003tgz.3_Silent_p.L489L|VPS41_uc010kxn.3_Silent_p.L425L	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	514					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AATTCTGCCAGGGTTTTAAGT	0.363000														14			13		0	0	0.001368	0	0
DOPEY1	23033	broad.mit.edu	37	6	83872626	83872626	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:83872626G>A	uc011dyy.2	+	37	7313	c.7053G>A	c.(7051-7053)cgG>cgA	p.R2351R	DOPEY1_uc003pjs.1_Silent_p.R2360R|DOPEY1_uc010kbl.1_Silent_p.R2351R|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2360					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTTCTTCGGAAAAGAGCAA	0.383000														44			39		0	0	0.002852	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55638912C>T	uc003pcq.3	-	3	1674	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_uc011dxf.2_Missense_Mutation_p.R321Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(2)|p.R321*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000														49			26		0	0	0.004656	0	0
TTC40	54777	broad.mit.edu	37	10	134646883	134646883	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:134646883G>A	uc021qbc.1	-	49	7197	c.7096C>T	c.(7096-7098)Cgc>Tgc	p.R2366C		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	527								p.R2366H(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTATGGAGGCGATTCCACAGC	0.403000														41			14		0	0	0.001855	0	0
TGFBR3	7049	broad.mit.edu	37	1	92178031	92178031	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:92178031C>T	uc001doh.3	-	12	2450	c.1935G>A	c.(1933-1935)tcG>tcA	p.S645S	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Silent_p.S603S|TGFBR3_uc001doi.3_Silent_p.S644S|TGFBR3_uc001doj.3_Silent_p.S644S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	645	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TATCAGGGTTCGAATATGGAG	0.378000														19			14		0	0	0.001855	0	0
FOXG1	2290	broad.mit.edu	37	14	29237936	29237936	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:29237936C>T	uc001wqe.3	+	0	1650	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	484					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGTCTTCTTCCAACCCTTTA	0.403000														15			9		0	0	0.000978	0	0
ZNF225	7768	broad.mit.edu	37	19	44635521	44635521	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:44635521A>G	uc002oyj.1	+	4	997	c.754A>G	c.(754-756)Aaa>Gaa	p.K252E	ZNF225_uc010ejf.1_Missense_Mutation_p.K252E	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGTTCATCGTAAATTACACAC	0.418000														36			26		0	0	0.004656	0	0
EPHA4	2043	broad.mit.edu	37	2	222298879	222298879	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:222298879C>T	uc002vmq.3	-	13	2521	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	EPHA4_uc002vmr.2_Missense_Mutation_p.D827N|EPHA4_uc010zlm.1_Missense_Mutation_p.D768N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	827	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGGACATATCCCAATAGGGC	0.418000														27			25		0	0	0.005443	0	0
PLCB4	5332	broad.mit.edu	37	20	9434098	9434098	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:9434098G>A	uc021wam.1	+	28	2964	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	PLCB4_uc010gbw.1_Missense_Mutation_p.M983I|PLCB4_uc010gbx.3_Missense_Mutation_p.M995I|PLCB4_uc021wal.1_Missense_Mutation_p.M983I|PLCB4_uc002wnh.3_Missense_Mutation_p.M830I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	983					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGAAGGCAATGAAGAAGAAGG	0.388000														9			19		0	0	0.008871	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167364	140167364	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140167364C>T	uc003lhb.2	+	0	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHAC2_uc003lha.2_Missense_Mutation_p.R497W|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R497W	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	511	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P496T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAACGGCGGGTGGG	0.672000														49			33		0	0	0.008740	0	0
MYH7	4625	broad.mit.edu	37	14	23899786	23899786	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:23899786C>T	uc001wjx.3	-	10	1088	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	328	Myosin head-like.		E -> G (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCATGAGCTCCTCAGCGTCA	0.552000														11			6		0	0	0.001984	0	0
OR9A4	130075	broad.mit.edu	37	7	141619534	141619534	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141619534C>T	uc003vwu.1	+	0	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTTCCTCAATCCTTTCATCTT	0.473000														39			14		0	0	0.002450	0	0
GCAT	23464	broad.mit.edu	37	22	38212689	38212689	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:38212689C>T	uc003aua.2	+	8	1365	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	GCAT_uc003atz.3_Silent_p.F408F	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	408					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGAGGCCTTCGTGGAAGTGG	0.622000														36			24		0	0	0.006320	0	0
MUC6	4588	broad.mit.edu	37	11	1017124	1017124	+	Missense_Mutation	SNP	G	C	C	rs71472140		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:1017124G>C	uc001lsw.2	-	30	5728	c.5677C>G	c.(5677-5679)Cca>Gca	p.P1893A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1893	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCATTGGTGGGGCTGTGTGG	0.562000														514			21		0	0	0.003610	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126630	100126630	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:100126630G>A	uc010avs.3	+	4	1454	c.1389G>A	c.(1387-1389)ccG>ccA	p.P463P	HHIPL1_uc001ygl.1_Silent_p.P463P	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	463					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.P463S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACTTGCTGCCGATTTTCGCCT	0.627000														24			12		0	0	0.001855	0	0
RGS6	9628	broad.mit.edu	37	14	72939580	72939580	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:72939580G>A	uc001xna.4	+	9	1060	c.537_splice	c.e9-1	p.K179_splice	RGS6_uc021rvv.1_Splice_Site_p.K144_splice|RGS6_uc010ttn.2_Splice_Site_p.K179_splice|RGS6_uc021rvw.1_Splice_Site_p.K179_splice|RGS6_uc021rvx.1_Splice_Site_p.K179_splice|RGS6_uc021rvy.1_Splice_Site_p.K179_splice|RGS6_uc021rvz.1_Splice_Site_p.K179_splice|RGS6_uc001xmy.4_Splice_Site_p.K179_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.K179_splice|RGS6_uc021rwa.1_Splice_Site_p.K179_splice|RGS6_uc021rwb.1_Splice_Site_p.K179_splice|RGS6_uc010ttp.1_Splice_Site_p.K110_splice|RGS6_uc021rwc.1_Splice_Site_p.K40_splice|RGS6_uc010arg.3_Splice_Site	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	179					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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACTCTTTCAGGATTGACCGGA	0.448000														89			22		0	0	0.003330	0	0
MR1	3140	broad.mit.edu	37	1	181022797	181022797	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:181022797G>A	uc001goq.2	+	5	1130	c.969G>A	c.(967-969)tgG>tgA	p.W323*	MR1_uc001gor.2_Nonsense_Mutation_p.W278*|MR1_uc001gos.2_Nonsense_Mutation_p.W231*|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	323					antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						TTCTAGTCTGGAGAAGAAGGC	0.522000														88			31		0	0	0.003271	0	0
ZNF500	26048	broad.mit.edu	37	16	4815911	4815911	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:4815911C>T	uc002cxp.1	-	1	316	c.69G>A	c.(67-69)ctG>ctA	p.L23L	ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Silent_p.L23L	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCTTCACAATCAGGATCTCTT	0.607000														40			25		0	0	0.003954	0	0
TOX2	84969	broad.mit.edu	37	20	42694485	42694485	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:42694485G>T	uc010ggo.3	+	6	1134	c.1094G>T	c.(1093-1095)cGc>cTc	p.R365L	TOX2_uc002xle.4_Missense_Mutation_p.R323L|TOX2_uc010ggp.3_Missense_Mutation_p.R323L|TOX2_uc002xlf.4_Missense_Mutation_p.R347L|TOX2_uc010zwk.2_Missense_Mutation_p.R243L	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGCCTTCCGCAGTGGGGCC	0.697000														65			19		1.28384e-07	1.52569e-07	0.001882	1	0
PDCD11	22984	broad.mit.edu	37	10	105184842	105184842	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:105184842G>A	uc001kwy.1	+	19	2952	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	955					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTCTCCCTGACCTCTCACC	0.557000														13			20		0	0	0.008871	0	0
TSC22D2	9819	broad.mit.edu	37	3	150129006	150129006	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:150129006C>T	uc003exv.3	+	0	2219	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Silent_p.S623S	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	623							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGCAGATTCCCTGGCAAACC	0.458000														19			21		0	0	0.001523	0	0
ULBP2	80328	broad.mit.edu	37	6	150263263	150263263	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:150263263C>T	uc003qno.3	+	0	128	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ULBP2_uc011eeh.1_Silent_p.L19L|ULBP2_uc010kij.3_Silent_p.L19L	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	19					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCTGCTCCTGCTGTCCGGCTG	0.647000														3			8		0	0	0.003080	0	0
MTFMT	123263	broad.mit.edu	37	15	65295427	65295427	+	Silent	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65295427A>C	uc002aof.4	-	8	1169	c.1143T>G	c.(1141-1143)acT>acG	p.T381T		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	381						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GCATAGCAACAGTTTTTTTCT	0.343000														9			8		0	0	0.006214	0	0
APC	324	broad.mit.edu	37	5	112175106	112175106	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:112175106C>T	uc003kpz.4	+	16	4008	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	APC_uc011cvt.2_Missense_Mutation_p.S1254L|APC_uc003kpy.4_Missense_Mutation_p.S1272L|APC_uc010jbz.3_Missense_Mutation_p.S989L|APC_uc010jca.3_Missense_Mutation_p.S572L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1272	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1272*(2)|p.S1272fs*4(2)|p.S1272fs*16(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATGTTTTTCAAGATGTAGT	0.373000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				21			15		0	0	0.004007	0	0
GRM8	2918	broad.mit.edu	37	7	126542643	126542643	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:126542643T>C	uc003vlr.2	-	4	1420	c.1109A>G	c.(1108-1110)aAg>aGg	p.K370R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.K370R|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.K91R	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	370					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATCCTAACTTGCAGCCAAA	0.368000										HNSCC(24;0.065)				17			19		0	0	0.007413	0	0
TRPC4	7223	broad.mit.edu	37	13	38211639	38211639	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:38211639C>T	uc010abx.3	-	10	2585	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	TRPC4_uc010abv.3_Missense_Mutation_p.E359K|TRPC4_uc001uwt.3_Missense_Mutation_p.E779K|TRPC4_uc001uws.3_Missense_Mutation_p.E779K|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.E606K|TRPC4_uc010aby.3_Missense_Mutation_p.E714K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	779	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACTCTTTTCATCTGAGTCT	0.423000														19			18		0	0	0.006122	0	0
FGA	2243	broad.mit.edu	37	4	155509998	155509998	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:155509998G>A	uc003iod.1	-	2	369	c.311C>T	c.(310-312)tCg>tTg	p.S104L	FGA_uc003ioe.1_Missense_Mutation_p.S104L|FGA_uc003iof.1_Missense_Mutation_p.S104L	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	104					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGTGGTCAACGAATGAGAATC	0.294000														75			23		0	0	0.004656	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446468	169446468	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446468A>G	uc001gge.4	-	1	936	c.732T>C	c.(730-732)tcT>tcC	p.S244S	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	244					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.S244Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GAAGGTGGTTAGAAGCTGGGG	0.483000														101			5		0	0	0.003080	0	0
TET1	80312	broad.mit.edu	37	10	70405456	70405456	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:70405456C>T	uc001jok.4	+	3	3475	c.2970C>T	c.(2968-2970)tcC>tcT	p.S990S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	990					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACCAAGCATCCACAAAGTCAC	0.348000														19			9		0	0	0.000978	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460296	32460296	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:32460296G>A	uc021sic.1	+	9	1340	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc001zft.3_Silent_p.G382G|CHRNA7_uc010baf.3_Silent_p.G201G|CHRNA7_uc010bak.3_Silent_p.G297G	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	382				RMACS -> AWPAP (in Ref. 9; CAA80672).	activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CCAGCAACGGGAACCTGCTGT	0.721000														35			10		0	0	0.004007	0	0
MECOM	2122	broad.mit.edu	37	3	168807957	168807957	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:168807957C>T	uc011bpj.1	-	14	3635	c.3232G>A	c.(3232-3234)Gat>Aat	p.D1078N	MECOM_uc010hwk.1_Missense_Mutation_p.D904N|MECOM_uc003ffj.3_Missense_Mutation_p.D955N|MECOM_uc003ffi.3_Missense_Mutation_p.D890N|MECOM_uc011bpi.1_Missense_Mutation_p.D882N|MECOM_uc003ffn.3_Missense_Mutation_p.D890N|MECOM_uc003ffk.2_Missense_Mutation_p.D881N|MECOM_uc003ffl.2_Missense_Mutation_p.D1041N|MECOM_uc011bpk.1_Missense_Mutation_p.D890N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTTCTTCATCATCCAGCAAG	0.348000														60			12		0	0	0.001855	0	0
GREB1	9687	broad.mit.edu	37	2	11741077	11741077	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:11741077A>G	uc002rbk.1	+	15	2785	c.2485A>G	c.(2485-2487)Atc>Gtc	p.I829V	GREB1_uc002rbo.1_Missense_Mutation_p.I463V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	829				I -> S (in Ref. 1; AAG39036).		integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACACCCTCATCAGCCCCTA	0.572000														38			21		0	0	0.003954	0	0
MYO7B	4648	broad.mit.edu	37	2	128354112	128354112	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:128354112C>T	uc002top.3	+	18	2373	c.2320C>T	c.(2320-2322)Ctt>Ttt	p.L774F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	774	IQ 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity	p.V773V(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGAAAGTCCTTCGGGGCTA	0.617000														7			7		0	0	0.003080	0	0
CACNA1B	774	broad.mit.edu	37	9	140946556	140946556	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:140946556G>A	uc004cog.3	+	24	3868	c.3723G>A	c.(3721-3723)ggG>ggA	p.G1241G	CACNA1B_uc022bqn.1_Silent_p.G1241G|CACNA1B_uc011mfd.2_Silent_p.G842G|CACNA1B_uc004coi.3_Silent_p.G455G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1241					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATCCAAAGGGAAAGACATCA	0.577000														0			10		0	0	0.000978	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566849	45566849	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:45566849G>A	uc010dnv.3	-	2	1132	c.696C>T	c.(694-696)tcC>tcT	p.S232S	ZBTB7C_uc002ldb.3_Silent_p.S210S|ZBTB7C_uc010dnu.3_Silent_p.S219S|ZBTB7C_uc010dnw.3_Silent_p.S210S|ZBTB7C_uc010dnx.1_Silent_p.S210S|ZBTB7C_uc010dny.1_Silent_p.S210S|ZBTB7C_uc010dnz.1_Silent_p.S232S|ZBTB7C_uc010doi.1_Silent_p.S210S|ZBTB7C_uc010doj.1_Silent_p.S219S|ZBTB7C_uc010dok.1_Silent_p.S259S|ZBTB7C_uc010dol.1_Silent_p.S219S|ZBTB7C_uc010doa.1_Silent_p.S232S|ZBTB7C_uc010dob.1_Silent_p.S210S|ZBTB7C_uc010doc.1_Silent_p.S219S|ZBTB7C_uc010dod.1_Silent_p.S232S|ZBTB7C_uc010doe.1_Silent_p.S210S|ZBTB7C_uc010dof.1_Silent_p.S210S|ZBTB7C_uc010dog.1_Silent_p.S210S|ZBTB7C_uc010doh.1_Silent_p.S219S|ZBTB7C_uc010dom.1_Silent_p.S219S|ZBTB7C_uc010don.1_Silent_p.S218S|ZBTB7C_uc010dop.1_Silent_p.S210S|ZBTB7C_uc010doq.1_Silent_p.S219S|ZBTB7C_uc010dor.1_Silent_p.S232S|ZBTB7C_uc010dos.1_Silent_p.S210S|ZBTB7C_uc010dot.1_Silent_p.S210S|ZBTB7C_uc010doo.1_Silent_p.S210S|ZBTB7C_uc010dou.1_Silent_p.S219S	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	210						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						CAGCCTGGAAGGAGTCAGGGA	0.587000														23			30		0	0	0.008361	0	0
LCN2	3934	broad.mit.edu	37	9	130911873	130911873	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:130911873C>T	uc004bto.1	+	0	142	c.69C>T	c.(67-69)tcC>tcT	p.S23S	LCN2_uc010mxq.1_Silent_p.S23S|LCN2_uc011map.1_Silent_p.S23S	NM_005564	NP_005555	P80188	NGAL_HUMAN	Homo sapiens lipocalin 2 (LCN2), mRNA.	23					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.D22Y(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCAGGACTCCACCTCAGACC	0.637000														18			41		0	0	0.005524	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883979	19883979	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19883979G>A	uc010vav.2	-	1	498	c.267C>T	c.(265-267)gcC>gcT	p.A89A	GPRC5B_uc021tef.1_Silent_p.A55A|GPRC5B_uc002dgt.3_Silent_p.A63A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	63										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGCCCGCCCCGGCCACCGCCT	0.652000														20			12		0	0	0.001855	0	0
MECOM	2122	broad.mit.edu	37	3	168834378	168834378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:168834378C>T	uc011bpj.1	-	7	1685	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	MECOM_uc010hwk.1_Missense_Mutation_p.E263K|MECOM_uc003ffj.3_Missense_Mutation_p.E305K|MECOM_uc003ffi.3_Missense_Mutation_p.E240K|MECOM_uc011bpi.1_Missense_Mutation_p.E241K|MECOM_uc003ffn.3_Missense_Mutation_p.E240K|MECOM_uc003ffk.2_Missense_Mutation_p.E240K|MECOM_uc003ffl.2_Missense_Mutation_p.E400K|MECOM_uc011bpk.1_Missense_Mutation_p.E240K|MECOM_uc010hwn.2_Missense_Mutation_p.E428K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.G428V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTCTTGCCCTCACAAAACCTC	0.443000														56			7		0	0	0.001984	0	0
GRM4	2914	broad.mit.edu	37	6	34008342	34008342	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:34008342C>T	uc003oir.4	-	5	1715	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	GRM4_uc011dsn.2_Missense_Mutation_p.R404Q|GRM4_uc010jvh.3_Missense_Mutation_p.R451Q|GRM4_uc010jvi.3_Missense_Mutation_p.R143Q|GRM4_uc003oio.3_Missense_Mutation_p.R143Q|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R311Q|GRM4_uc003oiq.3_Missense_Mutation_p.R318Q|GRM4_uc011dsm.2_Missense_Mutation_p.R282Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	451					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTTGACGTTTCGGATGTACTT	0.662000														10			18		0	0	0.006122	0	0
RAI14	26064	broad.mit.edu	37	5	34811966	34811967	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:34811966_34811967GG>AA	uc003jis.3	+	10	1200_1201	c.661_662GG>AA	c.(661-663)gga>AAa	p.G221K	RAI14_uc003jir.3_Missense_Mutation_p.G218K|RAI14_uc010iur.3_Missense_Mutation_p.G218K|RAI14_uc011coj.2_Missense_Mutation_p.G218K|RAI14_uc010ius.1_Missense_Mutation_p.G147K|RAI14_uc003jit.3_Missense_Mutation_p.G218K|RAI14_uc011cok.2_Missense_Mutation_p.G210K	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	218						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTTGGATACAATGCC	0.391000														26			18		0	0	0.004672	0	0
LAIR1	3903	broad.mit.edu	37	19	54867598	54867598	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54867598C>T	uc002qfk.1	-	8	992	c.682G>A	c.(682-684)Gga>Aga	p.G228R	LAIR1_uc002qfl.1_Missense_Mutation_p.G211R|LAIR1_uc002qfm.1_Missense_Mutation_p.G227R|LAIR1_uc002qfn.1_Missense_Mutation_p.G210R|LAIR1_uc010yex.2_Missense_Mutation_p.G221R|LAIR1_uc002qfo.3_Missense_Mutation_p.G210R	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	228						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCAGGAAGTCCATTGACTGTG	0.488000														53			20		0	0	0.002299	0	0
USP5	8078	broad.mit.edu	37	12	6965958	6965958	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6965958C>T	uc001qri.4	+	5	731	c.672C>T	c.(670-672)ttC>ttT	p.F224F	USP5_uc001qrh.4_Silent_p.F224F	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	224	Substrate binding.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GACGCTACTTCGATGGCAGTG	0.577000														39			14		0	0	0.004007	0	0
PAQR5	54852	broad.mit.edu	37	15	69672243	69672243	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:69672243C>T	uc002arz.2	+	3	451	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	PAQR5_uc002asa.2_Silent_p.L25L	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	25					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	p.L25V(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GCAAGGCATCCTGTTCGGCTA	0.537000														108			60		0	0	0.003610	0	0
IL17B	27190	broad.mit.edu	37	5	148753994	148753994	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:148753994C>T	uc003lqo.3	-	2	531	c.481G>A	c.(481-483)Ggg>Agg	p.G161R		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	161					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAAGGCCCTGTGCGGGGC	0.682000														35			37		0	0	0.004878	0	0
CCDC69	26112	broad.mit.edu	37	5	150581166	150581166	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:150581166C>T	uc003ltq.3	-	2	331	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	70										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTCTTTTCCTCCTCATGT	0.502000														32			19		0	0	0.008871	0	0
ABCC4	10257	broad.mit.edu	37	13	95715076	95715076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:95715076G>A	uc001vmd.4	-	25	3367	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.S1036F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1083	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGAGATGAGGGAACTTTTTCC	0.403000														46			16		0	0	0.006122	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871590	51871590	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:51871590C>T	uc002xwo.3	+	1	2480	c.1593C>T	c.(1591-1593)gcC>gcT	p.A531A	TSHZ2_uc021wex.1_Silent_p.A528A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	531					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCAACAAAGCCCAAAACGGGG	0.542000														52			8		0	0	0.004482	0	0
KPNA2	3838	broad.mit.edu	37	17	66033503	66033503	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:66033503T>C	uc002jgk.3	+	2	237	c.105T>C	c.(103-105)aaT>aaC	p.N35N	KPNA2_uc002jgl.3_Silent_p.N35N	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	35	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAGGTCAATGTGGAGCTGA	0.438000														42			46		0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205273115	205273115	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:205273115C>T	uc001hce.3	-	6	1477	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	450					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCGGGGCTTCTTGAGAATGC	0.642000														26			11		0	0	0.008291	0	0
ABCA4	24	broad.mit.edu	37	1	94502345	94502345	+	Splice_Site	SNP	C	T	T	rs62645955		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:94502345C>T	uc001dqh.3	-	26	3918	c.3814_splice	c.e26-1	p.I1272_splice		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1272					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGAAAAATCTGTCAAGAAG	0.428000														50			26		0	0	0.006320	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097953	34097953	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:34097953C>T	uc001mvh.1	+	4	726	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CAPRIN1_uc001mvg.3_Silent_p.S179S|CAPRIN1_uc001mvi.2_Silent_p.S179S|CAPRIN1_uc001mvj.1_Silent_p.S98S	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	179					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CAATATTGTCCGAAGAGGAGT	0.398000														11			19		0	0	0.006122	0	0
USP53	54532	broad.mit.edu	37	4	120189539	120189539	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:120189539C>T	uc003ics.4	+	12	2318	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	USP53_uc003icr.4_Missense_Mutation_p.R418W|USP53_uc003icu.4_Missense_Mutation_p.R41W|USP53_uc003ict.3_Missense_Mutation_p.R41W	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	418					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATCATCTAATCGGAGCCACAG	0.358000														12			13		0	0	0.001855	0	0
ZNF337	26152	broad.mit.edu	37	20	25656124	25656124	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:25656124G>A	uc002wva.3	-	3	2322	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Silent_p.F568F|ZNF337_uc002wvc.3_Silent_p.F600F	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTACAGATGAAAGGCTTCT	0.478000														83			14		0	0	0.003163	0	0
USH2A	7399	broad.mit.edu	37	1	216262377	216262377	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216262377G>A	uc001hku.1	-	22	5250	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1621	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATCCAGAGTGATTTGGCCAA	0.353000										HNSCC(13;0.011)				72			19		0	0	0.007413	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735169	12735169	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:12735169G>A	uc004cuz.2	+	14	3097	c.2591G>A	c.(2590-2592)gGa>gAa	p.G864E	FRMPD4_uc011mij.2_Missense_Mutation_p.G856E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	864					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGAGAAGGGACTGGATAAT	0.542000														41			12		0	0	0.001855	0	0
TAS2R4	50832	broad.mit.edu	37	7	141479077	141479077	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141479077C>T	uc003vwq.1	+	0	789	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	263					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGACCAAATCCATTTGTCTGA	0.408000														45			32		0	0	0.002836	0	0
TDP1	55775	broad.mit.edu	37	14	90429758	90429758	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:90429758G>C	uc001xxy.3	+	2	599	c.300G>C	c.(298-300)atG>atC	p.M100I	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.M100I|TDP1_uc010atn.3_Missense_Mutation_p.M100I|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	100					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AACCAGAAATGCCGCAGAAGC	0.512000								Repair of DNA-protein crosslinks						58			8		0	0	0.003080	0	0
GABRQ	55879	broad.mit.edu	37	X	151820005	151820005	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151820005C>T	uc004ffp.1	+	7	938	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	306						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	p.L306P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAATGCTCATCCTGACCA	0.468000														65			16		0	0	0.004007	0	0
BCL6B	255877	broad.mit.edu	37	17	6928507	6928507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:6928507C>T	uc010clt.1	+	4	939	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	BCL6B_uc002geg.2_Missense_Mutation_p.R293C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	293						nucleus	zinc ion binding			skin(1)	1						TGAACGGGCTCGTCCACTACC	0.557000														77			49		0	0	0.003610	0	0
TGM1	7051	broad.mit.edu	37	14	24724431	24724431	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:24724431C>T	uc001wod.3	-	11	1798	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	TGM1_uc010tog.2_Silent_p.E116E	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	558					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGCTGCTGTCTCTACTGCCT	0.622000														35			13		0	0	0.001855	0	0
TMEM175	84286	broad.mit.edu	37	4	941545	941545	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:941545C>T	uc003gbq.3	+	1	116	c.18C>T	c.(16-18)acC>acT	p.T6T	TMEM175_uc021xkf.1_Silent_p.T6T|TMEM175_uc010ibl.1_Silent_p.T6T|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_5'UTR	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	6						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCCCCGGACCCCAGAGCAGG	0.687000														3			11		0	0	0.000978	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109382	145109383	+	RNA	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:145109382_145109383GG>AA	uc022cft.1	-	0		c.8_9CC>TT								Homo sapiens microRNA 891a (MIR891A), microRNA.																		TTCGTTGCAAGGATTAAGGAGA	0.376000														8			14		0	0	0.004672	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332660	99332660	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99332660C>T	uc003uru.3	-	0	160	c.57G>A	c.(55-57)ctG>ctA	p.L19L	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Silent_p.L19L	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	19					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L19L(2)|p.L19P(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGAGGAGTATCAGGCTGACAG	0.463000														33			14		0	0	0.007413	0	0
TM2D3	80213	broad.mit.edu	37	15	102186926	102186926	+	Splice_Site	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:102186926A>G	uc002bxi.3	-	4	532	c.502_splice	c.e4+1	p.G168_splice	TM2D3_uc010usg.1_Splice_Site_p.G142_splice|TM2D3_uc002bxh.3_Splice_Site_p.G103_splice|TM2D3_uc002bxj.3_Splice_Site_p.G142_splice|TM2D3_uc010ush.1_Silent_p.G168G	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.	168						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTCTGACCTACCCAAGCAGT	0.473000														19			13		0	0	0.001368	0	0
ZDBF2	57683	broad.mit.edu	37	2	207176154	207176154	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:207176154T>C	uc002vbp.2	+	4	7152	c.6902T>C	c.(6901-6903)gTt>gCt	p.V2301A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2301							nucleic acid binding|zinc ion binding	p.R2300P(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTTGCCGCGTTGCAAGAAGG	0.507000														8			3		0	0	0.000248	0	0
RIOK3	8780	broad.mit.edu	37	18	21044211	21044211	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:21044211G>A	uc002kui.4	+	3	984	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	RIOK3_uc010dls.3_Missense_Mutation_p.E123K|RIOK3_uc010xas.2_Missense_Mutation_p.E107K|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	123					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCATCCTTATGAAGACAGCGA	0.398000														17			6		0	0	0.001984	0	0
DTL	51514	broad.mit.edu	37	1	212273663	212273663	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:212273663C>T	uc009xdc.3	+	13	1645	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	DTL_uc010ptb.2_Missense_Mutation_p.S402F|DTL_uc001hiz.4_Missense_Mutation_p.S173F	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	444					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCCAATTCTTCCCCGTCATCC	0.517000														79			29		0	0	0.002836	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255069	140255069	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140255069C>T	uc003lic.2	+	0	139	c.12C>T	c.(10-12)atC>atT	p.I4I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.I4I	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGATTATCGGACCAAGAG	0.552000														13			7		0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618162	77618162	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77618162C>T	uc003yau.2	+	1	2226	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ZFHX4_uc003yat.1_Silent_p.I613I|ZFHX4_uc003yaw.1_Silent_p.I613I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	613						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G612V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGTGGCATCGAGTGTCCAA	0.557000										HNSCC(33;0.089)				39			8		0	0	0.003080	0	0
RNF213	57674	broad.mit.edu	37	17	78264462	78264462	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78264462C>T	uc002jyh.2	+	7	1496	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	RNF213_uc002jyf.3_Silent_p.I402I|RNF213_uc021uen.1_Silent_p.I402I|RNF213_uc002jyg.1_Silent_p.I133I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	402										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGTCTTCATCAGAGGAGGAG	0.522000														29			15		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179441334	179441334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179441334G>A	uc021vsy.1	-	273	62158	c.61933C>T	c.(61933-61935)Cgt>Tgt	p.R20645C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14340C|TTN_uc021vta.1_Missense_Mutation_p.R14273C|TTN_uc021vtb.1_Missense_Mutation_p.R14148C|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14148S(1)|p.R20643S(1)|p.R14340S(1)|p.R20645S(1)|p.R14273S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTGACACGGAATTCGTAG	0.443000														90			47		0	0	0.003610	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821216	5821216	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:5821216C>T	uc010ndi.3	-	5	2078	c.1614G>A	c.(1612-1614)atG>atA	p.M538I	NLGN4X_uc004crp.3_Missense_Mutation_p.M521I|NLGN4X_uc010ndh.3_Missense_Mutation_p.M501I|NLGN4X_uc004crq.3_Missense_Mutation_p.M501I|NLGN4X_uc004crr.3_Missense_Mutation_p.M501I|NLGN4X_uc010ndj.3_Missense_Mutation_p.M501I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	501					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGACCGATCATGGGGATGC	0.532000														23			28		0	0	0.004656	0	0
ZMYM4	9202	broad.mit.edu	37	1	35870710	35870710	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35870710G>A	uc001byt.3	+	23	3695	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L	ZMYM4_uc009vuu.3_Silent_p.L1173L|ZMYM4_uc001byu.3_Silent_p.L881L|ZMYM4_uc009vuv.3_Silent_p.L944L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1205					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGATGACACTGAAATACATGT	0.478000														36			17		0	0	0.004990	0	0
SPERT	220082	broad.mit.edu	37	13	46288366	46288366	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:46288366G>A	uc001van.1	+	2	1286	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	SPERT_uc001vao.2_Silent_p.E366E	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	402						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCTGTGGGAGAACAACAAGC	0.597000														13			5		0	0	0.001168	0	0
FAM126A	84668	broad.mit.edu	37	7	22985211	22985211	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:22985211A>T	uc003svm.4	-	10	1818	c.1563T>A	c.(1561-1563)gaT>gaA	p.D521E	FAM126A_uc003svn.4_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	521						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTACTAATTAATCTGTGGACA	0.373000														29			30		0	0	0.002836	0	0
CADM3	57863	broad.mit.edu	37	1	159163717	159163717	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159163717C>T	uc001ftl.2	+	4	757	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.S227L	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	193	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.S227L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTCAGCAGCTCGGTGACATTC	0.522000														30			8		0	0	0.003080	0	0
WDR49	151790	broad.mit.edu	37	3	167247019	167247019	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:167247019T>C	uc003fev.1	-	9	1475	c.1171A>G	c.(1171-1173)Aac>Gac	p.N391D	WDR49_uc003feu.1_Missense_Mutation_p.N216D|WDR49_uc011bpd.1_Missense_Mutation_p.N455D|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	391										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GATACCAGGTTAGCTCCTCCT	0.393000														12			16		0	0	0.004990	0	0
COMMD10	51397	broad.mit.edu	37	5	115469813	115469813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115469813C>T	uc003krt.1	+	4	471	c.448C>T	c.(448-450)Caa>Taa	p.Q150*		NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN	Homo sapiens COMM domain containing 10 (COMMD10), mRNA.	150	COMM.						protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TCACTCTGCTCAAGCAAAACT	0.398000														21			10		0	0	0.006214	0	0
GEM	2669	broad.mit.edu	37	8	95272478	95272478	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:95272478C>T	uc003ygi.3	-	1	378	c.254G>A	c.(253-255)gGg>gAg	p.G85E	GEM_uc003ygj.3_Missense_Mutation_p.G85E	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	85					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTGCCCACCCCCTGCTCCCC	0.607000														25			13		0	0	0.001855	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481283	142481283	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142481283C>T	uc011ksq.2	+	2	440	c.357C>T	c.(355-357)atC>atT	p.I119I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTGCCGTCATCAATGCCCATG	0.547000														7			11		0	0	0.001368	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700066	94700066	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:94700066G>A	uc001ycs.1	+	5	747	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	198						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAAATTTTAGGAAAATTGACC	0.313000														32			13		0	0	0.007413	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190809	185190809	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:185190809C>T	uc010hyf.3	+	11	1981	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	MAP3K13_uc011brt.2_Missense_Mutation_p.P357S|MAP3K13_uc011bru.2_Missense_Mutation_p.P420S|MAP3K13_uc003fpi.3_Missense_Mutation_p.P564S|MAP3K13_uc010hyg.3_Missense_Mutation_p.P254S	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	564					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAAGTGGCTCCCACTGCATC	0.507000														80			25		0	0	0.004656	0	0
DNAH7	56171	broad.mit.edu	37	2	196636429	196636429	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196636429C>T	uc002utj.4	-	60	11489	c.11388G>A	c.(11386-11388)ctG>ctA	p.L3796L	DNAH7_uc002uti.4_Silent_p.L279L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3796					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3796L(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATGGTCTTCAGTAACTTAT	0.383000														74			34		0	0	0.006999	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680362	18680362	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:18680362C>T	uc003zne.4	+	10	1341	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	ADAMTSL1_uc003znb.3_Nonsense_Mutation_p.Q380*|ADAMTSL1_uc003znc.4_Nonsense_Mutation_p.Q397*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	397	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGGCATCCAGAGCCGGGC	0.597000														8			22		0	0	0.001882	0	0
SLC17A8	246213	broad.mit.edu	37	12	100784871	100784871	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:100784871C>T	uc010svi.2	+	2	760	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SLC17A8_uc009ztx.3_Silent_p.F149F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	149					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.F149L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGGTGGTTTCATTTCAAACA	0.378000														22			7		0	0	0.003080	0	0
FAM59A	64762	broad.mit.edu	37	18	29867420	29867420	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:29867420G>A	uc002kxl.3	-	3	1196	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	FAM59A_uc002kxk.2_Silent_p.T380T	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	380								p.T380I(3)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GGAAGGACTGGGTGAGCTCAT	0.572000														38			5		0	0	0.000602	0	0
KIF22	3835	broad.mit.edu	37	16	29815380	29815380	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:29815380G>A	uc002dts.3	+	10	1694	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.K489K|KIF22_uc010vdw.1_Silent_p.K489K|KIF22_uc002frc.1_5'Flank|MAZ_uc010vdx.2_5'Flank|MAZ_uc002dtx.3_5'Flank|MAZ_uc002dty.3_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	557					DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AAGGCCGGAAGAGAAAGGTGA	0.542000														32			16		0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11597737	11597737	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:11597737C>T	uc002gne.3	+	21	4913	c.4845C>T	c.(4843-4845)atC>atT	p.I1615I	DNAH9_uc010coo.3_Silent_p.I909I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1615	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTTAGACATCCTTTCCAACG	0.567000														17			6		0	0	0.001168	0	0
C1orf173	127254	broad.mit.edu	37	1	75097441	75097441	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:75097441G>A	uc001dgg.3	-	6	994	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	C1orf173_uc001dgi.4_Missense_Mutation_p.R53C	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	259	Poly-Arg.							p.R259H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGTTGGACGAAATCTTCTC	0.363000														33			10		0	0	0.000978	0	0
CIITA	4261	broad.mit.edu	37	16	10997604	10997604	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:10997604C>T	uc002daj.4	+	8	925	c.792C>T	c.(790-792)gcC>gcT	p.A264A	CIITA_uc002dai.4_Silent_p.A263A|CIITA_uc002dak.4_Silent_p.A214A|CIITA_uc002dag.2_Silent_p.A263A|CIITA_uc002dah.2_Silent_p.A215A|CIITA_uc010bup.1_Silent_p.A263A	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	263					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	ATP binding|activating transcription factor 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						TGCCCCAGGCCAGCCAAGTAC	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									30			16		0	0	0.007413	0	0
CPE	1363	broad.mit.edu	37	4	166385634	166385634	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:166385634G>A	uc003irg.4	+	1	677	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	134					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTATGCAACGAATACCAGAA	0.473000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			14		0	0	0.004007	0	0
ITGAL	3683	broad.mit.edu	37	16	30500600	30500600	+	Missense_Mutation	SNP	G	A	A	rs35543036		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:30500600G>A	uc002dyi.4	+	10	1282	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	ITGAL_uc002dyj.4_Missense_Mutation_p.G286E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	369					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGGCAGTAGGAGCCAAGGAC	0.607000														38			22		0	0	0.002299	0	0
BBS10	79738	broad.mit.edu	37	12	76740717	76740717	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:76740717G>A	uc001syd.1	-	1	1132	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	350					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GGTACAAATGGAGAAAGACCA	0.383000									Bardet-Biedl syndrome					12			10		0	0	0.008291	0	0
PIGW	284098	broad.mit.edu	37	17	34893583	34893583	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:34893583C>T	uc002hmy.1	+	1	676	c.633C>T	c.(631-633)ttC>ttT	p.F211F	MYO19_uc010cuu.3_5'Flank|MYO19_uc010wcy.2_5'Flank|MYO19_uc002hmw.3_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.F211F|PIGW_uc021tvq.1_Silent_p.F211F	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class W (PIGW), mRNA.	211					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATTAGTCTTCCTAGGAATCG	0.373000														46			16		0	0	0.004990	0	0
A1CF	29974	broad.mit.edu	37	10	52603792	52603792	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:52603792G>A	uc001jjj.3	-	3	378	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	A1CF_uc010qho.2_Missense_Mutation_p.P72S|A1CF_uc010qhn.2_Missense_Mutation_p.P72S|A1CF_uc009xov.3_Missense_Mutation_p.P64S|A1CF_uc001jji.3_Missense_Mutation_p.P64S|A1CF_uc001jjh.3_Missense_Mutation_p.P72S|A1CF_uc001jjk.1_Missense_Mutation_p.P64S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	64	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGTCTCGGGGAAGTTTTCCA	0.398000														47			17		0	0	0.004007	0	0
PRSS1	5644	broad.mit.edu	37	7	142457350	142457350	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142457350G>A	uc003wak.2	+	0	32	c.15G>A	c.(13-15)ctG>ctA	p.L5L	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.L5L|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	5					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.L4F(1)|p.L4L(1)		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)			ATCCACTCCTGATCCTTACCT	0.567000														39			20		0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9073021	9073021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9073021C>T	uc002mkp.3	-	2	14629	c.14425G>A	c.(14425-14427)Gat>Aat	p.D4809N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4811	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						GATATGTCATCCAAAGTGTTG	0.463000														30			20		0	0	0.002299	0	0
KANK4	163782	broad.mit.edu	37	1	62739307	62739307	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:62739307G>A	uc001dah.4	-	2	1846	c.1469C>T	c.(1468-1470)tCt>tTt	p.S490F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	490										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTATGTACAGAGGAGGTAAG	0.572000														59			24		0	0	0.003330	0	0
PEX16	9409	broad.mit.edu	37	11	45935479	45935479	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:45935479G>A	uc001nbt.3	-	8	1090	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	PEX16_uc001nbu.3_Silent_p.L260L	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	260	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGTCACTCAGGAGGCTCAGG	0.667000														5			14		0	0	0.007413	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777680	43777680	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:43777680C>A	uc010skx.2	-	29	4553	c.4553G>T	c.(4552-4554)cGa>cTa	p.R1518L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1518	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAACAAGGTCGGGTGGACTG	0.493000														35			28		6.50621e-10	7.75081e-10	0.002836	1	0
HYDIN	54768	broad.mit.edu	37	16	71103368	71103368	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:71103368G>A	uc002ezr.3	-	13	1927	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	HYDIN_uc010cfz.2_Silent_p.T337T|HYDIN_uc021tkq.1_Silent_p.T592T|HYDIN_uc010vmc.2_Silent_p.T609T|HYDIN_uc010vmd.2_Silent_p.T619T|HYDIN_uc002ezw.4_Silent_p.T609T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	592										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATCAAAGAGGTATTATTGA	0.438000														21			10		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	107013057	107013057	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:107013057C>T	uc021ser.1	-	218		c.8819G>A								Parts of antibodies, mostly variable regions.																		GCGGCGTATTCTGTTGTCCCA	0.502000														28			23		0	0	0.003330	0	0
GP1BA	2811	broad.mit.edu	37	17	4837492	4837492	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:4837492G>A	uc021toc.1	-	0		c.365C>T			GP1BA_uc021tnz.1_Silent_p.L531L|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Silent_p.L531L			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TCCTCCCCCTGGGCTTCTATG	0.572000														36			24		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179569645	179569645	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179569645C>T	uc021vsy.1	-	100	26146	c.25921G>A	c.(25921-25923)Gaa>Aaa	p.E8641K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5302K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9568	Ig-like 69.						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)			GATACAAGTTCCTCAAATTCC	0.308000														58			37		0	0	0.007835	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559292	178559292	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:178559292C>T	uc003mjw.3	-	14	2331	c.2229G>A	c.(2227-2229)gaG>gaA	p.E743E		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	743	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F742L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGCAGGGATCTCAAACATCT	0.542000														19			15		0	0	0.006122	0	0
FBN2	2201	broad.mit.edu	37	5	127714575	127714575	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:127714575C>T	uc003kuu.3	-	11	2051	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	FBN2_uc003kuv.2_Missense_Mutation_p.E505K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	538	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGTGCATTCATCAACATCT	0.378000														43			29		0	0	0.003271	0	0
AADAC	13	broad.mit.edu	37	3	151535330	151535330	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:151535330G>A	uc003eze.3	+	1	405	c.315G>A	c.(313-315)agG>agA	p.R105R	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	105					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTAAGAAGGGGGTTGTTTT	0.433000														56			12		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13830773C>T	uc003jfd.2	-	35	6036	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1998	AAA 1 (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)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome					25			20		0	0	0.001523	0	0
ATG4A	115201	broad.mit.edu	37	X	107381055	107381055	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:107381055C>T	uc004enr.3	+	7	727	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ATG4A_uc004ens.3_Missense_Mutation_p.P106L|ATG4A_uc011msl.2_Missense_Mutation_p.P106L|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P190L	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	190					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CGTGTCCTTCCCTTGAGTGCT	0.468000														35			53		0	0	0.003610	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766714	19766714	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19766714G>A	uc002nnh.4	-	8	1270	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Silent_p.V296V	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	414					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGTCCGCAGGACGTAGGCCA	0.652000														5			4		0	0	0.000602	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:59483414G>A	uc002lih.1	-	1	695	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNF152_uc021ula.1_Missense_Mutation_p.P95S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000														32			9		0	0	0.004482	0	0
TM4SF18	116441	broad.mit.edu	37	3	149051063	149051063	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:149051063G>A	uc021xfl.1	-	0	197	c.107C>T	c.(106-108)tCc>tTc	p.S36F	TM4SF18_uc003exa.3_Missense_Mutation_p.S36F	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	36						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATGCATAGGAAGTTTGCCC	0.423000														16			28		0	0	0.008361	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316293	30316293	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:30316293C>T	uc009xle.2	-	2	2921	c.2784G>A	c.(2782-2784)tgG>tgA	p.W928*	KIAA1462_uc001iux.3_Nonsense_Mutation_p.W928*|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Nonsense_Mutation_p.W790*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	928										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGGATGGAGGCCAGGCACGTG	0.617000														24			14		0	0	0.002450	0	0
FAM24B	196792	broad.mit.edu	37	10	124609993	124609993	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:124609993G>A	uc001lgt.3	-	2	373	c.39C>T	c.(37-39)ctC>ctT	p.L13L	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Silent_p.L13L|LOC399815_uc001lgu.3_5'Flank	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	13						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTATCAGCAGGAGCAAGGCCG	0.448000														32			24		0	0	0.003330	0	0
SOAT2	8435	broad.mit.edu	37	12	53499366	53499366	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:53499366G>A	uc001sbv.3	+	3	385	c.297G>A	c.(295-297)ggG>ggA	p.G99G	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	99					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CATCCCTGGGGAAACAGAAAG	0.502000														10			8		0	0	0.006214	0	0
GPR108	56927	broad.mit.edu	37	19	6735965	6735965	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:6735965C>T	uc002mfp.3	-	2	291	c.245G>A	c.(244-246)gGg>gAg	p.G82E		NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	82						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGACTGAACCCCACCTGGTG	0.562000											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			4		0	0	0.000248	0	0
EDEM2	55741	broad.mit.edu	37	20	33703686	33703686	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:33703686G>A	uc002xbo.2	-	10	1387	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	EDEM2_uc010zus.1_Silent_p.F208F|EDEM2_uc002xbq.2_Silent_p.F392F|EDEM2_uc010zut.1_Silent_p.F388F|EDEM2_uc002xbn.2_Silent_p.F277F|EDEM2_uc010zuu.1_Silent_p.F153F	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	429					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCTCGGCCAGGAAGAACGACT	0.517000														14			38		0	0	0.002222	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743107	26743107	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:26743107G>A	uc001mra.2	-	0	468	c.155C>T	c.(154-156)cCt>cTt	p.P52L	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.P52L	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	52					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAGCCGACAGGGCCAAAGCT	0.522000														7			18		0	0	0.008871	0	0
ITGBL1	9358	broad.mit.edu	37	13	102366844	102366844	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:102366844G>A	uc001vpb.3	+	9	1555	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	ITGBL1_uc010agb.3_Missense_Mutation_p.E397K|ITGBL1_uc001vpc.4_Missense_Mutation_p.E305K	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	446	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTCTGGGGAGTTCTGTGA	0.398000														66			27		0	0	0.002096	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012188	160012189	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:160012188_160012189GG>TT	uc001fuw.2	-	1	374_375	c.134_135CC>AA	c.(133-135)gcc>gAA	p.A45E		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	45						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCGCTTGTCGGCAATGTGCTC	0.554000														98			43		0	0	0.004672	0	0
TNN	63923	broad.mit.edu	37	1	175066613	175066613	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:175066613C>T	uc001gkl.1	+	7	1762	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	550	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCACCATCTCCTGGGACCCG	0.537000														29			18		0	0	0.007413	0	0
ANGPT1	284	broad.mit.edu	37	8	108334194	108334194	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:108334194G>A	uc003ymn.3	-	3	1206	c.738C>T	c.(736-738)gtC>gtT	p.V246V	ANGPT1_uc011lhv.2_Silent_p.V46V|ANGPT1_uc003ymo.3_Silent_p.V246V|ANGPT1_uc003ymp.4_Silent_p.V46V	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	246					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTTCTGAAGGACACTGTTGT	0.428000														30			28		0	0	0.002836	0	0
UGT8	7368	broad.mit.edu	37	4	115544722	115544722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:115544722C>T	uc003ibs.2	+	1	1208	c.686C>T	c.(685-687)tCc>tTc	p.S229F	UGT8_uc003ibt.2_Missense_Mutation_p.S229F|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	229					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCAGAGAAGTCCATGTATGAT	0.453000														43			12		0	0	0.000978	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95443821	95443821	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95443821G>A	uc001kiz.2	-	9	858	c.660C>T	c.(658-660)ttC>ttT	p.F220F	FRA10AC1_uc001kiv.2_Non-coding_Transcript	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	220	Lys-rich.					nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ACCTGTGATGGAAATTTAATT	0.318000														50			55		0	0	0.003610	0	0
SCIMP	388325	broad.mit.edu	37	17	5114157	5114157	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:5114157T>G	uc002gbh.2	-	4	410	c.377A>C	c.(376-378)gAg>gCg	p.E126A	LOC100130950_uc002gbf.2_Intron|LOC100130950_uc002gbg.2_Intron|SCIMP_uc010clb.1_Missense_Mutation_p.E119A	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN	Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.	126						integral to membrane											ATCTTCAGGCTCAATGTAGCT	0.413000														27			25		0	0	0.003954	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998893	27998893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:27998893G>A	uc004dbx.1	-	0	674	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	187										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TACTGCAGGCGGAAACGCTGC	0.557000														7			7		0	0	0.003080	0	0
SLC2A3	6515	broad.mit.edu	37	12	8075447	8075447	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8075447G>A	uc001qtr.3	-	8	1504	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	414					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATCCGACTAGGAAGTTGGAGG	0.532000														28			23		0	0	0.004656	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115671	52115671	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52115671G>A	uc002pxe.3	-	8	1608	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	490					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCTTCCTGGAACCCTGAGT	0.478000														49			32		0	0	0.002096	0	0
SSPO	23145	broad.mit.edu	37	7	149498854	149498854	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:149498854C>T	uc010lpk.3	+	49	7297	c.7297C>T	c.(7297-7299)Ctc>Ttc	p.L2433F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2436					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTCCCTTCTCTCCCTGCCTT	0.597000														12			15		0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	137852488	137852488	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:137852488C>T	uc002tva.1	+	2	903	c.903C>T	c.(901-903)atC>atT	p.I301I	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.I191I	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		AGTCCTGCATCATGCCCAAAG	0.488000														44			31		0	0	0.002096	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892237	9892237	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:9892237C>T	uc010uym.2	-	11	2563	c.2253G>A	c.(2251-2253)ggG>ggA	p.G751G	GRIN2A_uc002czo.4_Silent_p.G751G|GRIN2A_uc010uyn.2_Silent_p.G594G|GRIN2A_uc002czr.4_Silent_p.G751G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	751					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	TGTACCCACTCCCGATGGTCA	0.522000														33			20		0	0	0.008871	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14965057	14965057	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:14965057G>A	uc001inn.3	-	11	1069	c.984C>T	c.(982-984)ttC>ttT	p.F328F	DCLRE1C_uc010qbx.2_Silent_p.F328F|DCLRE1C_uc001ink.3_5'UTR|DCLRE1C_uc001inl.3_Silent_p.F208F|DCLRE1C_uc001inr.3_Silent_p.F213F|DCLRE1C_uc009xji.3_Silent_p.F213F|DCLRE1C_uc001inm.3_Silent_p.F208F|DCLRE1C_uc001ino.3_Silent_p.F213F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Silent_p.F208F|DCLRE1C_uc001inq.3_Silent_p.F208F|DCLRE1C_uc021pni.1_Silent_p.F213F|DCLRE1C_uc009xjj.1_Non-coding_Transcript	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	328					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGTAGCTCAAGAAATCTTTAA	0.418000								Non-homologous end-joining						20			10		0	0	0.001855	0	0
EBF1	1879	broad.mit.edu	37	5	158223377	158223377	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:158223377G>A	uc010jip.3	-	8	1187	c.885C>T	c.(883-885)ttC>ttT	p.F295F	EBF1_uc011ddw.2_Silent_p.F163F|EBF1_uc011ddx.2_Silent_p.F296F|EBF1_uc003lxl.4_Silent_p.F264F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	295	IPT/TIG.				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)			GCATGGTACCGAATATGACCT	0.433000			T	HMGA2	lipoma									10			16		0	0	0.006122	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576430	33576430	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:33576430G>A	uc003jia.1	-	18	3864	c.3701C>T	c.(3700-3702)cCc>cTc	p.P1234L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1149L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1234	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCAACTCTGGGTGTCCCAGT	0.572000										HNSCC(64;0.19)				43			30		0	0	0.006320	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302326	186302326	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:186302326C>T	uc003fqi.3	+	8	1695	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	320					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTTGATAATCACTTTTGATG	0.443000														14			7		0	0	0.003080	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499273	34499273	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:34499273G>A	uc002hky.2	-	6	588	c.438C>T	c.(436-438)gaC>gaT	p.D146D	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	146	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.D146N(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTATGTCCCGGTCGATGCGCT	0.547000														350			45		0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79400700	79400700	+	Silent	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:79400700T>C	uc003hlb.2	+	55	8711	c.8271T>C	c.(8269-8271)ctT>ctC	p.L2757L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2752	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGTCATGCTTATTGATGACA	0.507000														31			12		0	0	0.003163	0	0
PRG4	10216	broad.mit.edu	37	1	186269336	186269336	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:186269336T>A	uc001gru.4	+	2	241	c.190T>A	c.(190-192)Tgc>Agc	p.C64S	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Intron|PRG4_uc009wyl.3_Missense_Mutation_p.C64S|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	64	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGAGAGTCTGCACTGCGGG	0.537000														88			33		0	0	0.002836	0	0
OR5B12	390191	broad.mit.edu	37	11	58206722	58206722	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:58206722C>T	uc010rkh.2	-	0	925	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K301N(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCTACAGTCTTTTTAAAGG	0.363000														4			7		0	0	0.003080	0	0
STK36	27148	broad.mit.edu	37	2	219563402	219563402	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219563402C>T	uc002viu.3	+	25	3414	c.3135C>T	c.(3133-3135)ccC>ccT	p.P1045P	STK36_uc002viv.3_Silent_p.P1024P|STK36_uc002vix.3_Silent_p.P90P	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	1045					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCATGGATCCCACCTCTCTCA	0.547000														98			63		0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645854	8645854	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:8645854G>A	uc002mkj.1	-	25	3509	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	ADAMTS10_uc002mki.1_Missense_Mutation_p.P566S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	1079	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCACCAGGGGGCAGTAGGCG	0.617000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			5		0	0	0.003080	0	0
NALCN	259232	broad.mit.edu	37	13	102051387	102051387	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:102051387G>A	uc001vox.1	-	1	280	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.L31F|NALCN_uc001vpa.2_Missense_Mutation_p.L31F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	31						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAATCCAGAGGATGTCAGCA	0.423000														27			8		0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	61831382	61831382	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61831382C>T	uc001jky.3	-	36	9595	c.9257G>A	c.(9256-9258)gGg>gAg	p.G3086E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3086					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G3086R(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATCTCTTTCCCTCCCTCTGT	0.418000														63			18		0	0	0.004990	0	0
TLR1	7096	broad.mit.edu	37	4	38799722	38799722	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:38799722G>A	uc003gtl.3	-	3	1005	c.731C>T	c.(730-732)cCa>cTa	p.P244L	TLR1_uc021xnn.1_Missense_Mutation_p.P244L	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	244					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGATAACTTTGGATTTGTTTG	0.338000														8			4		0	0	0.000248	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212883	132212883	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:132212883C>T	uc001uja.1	+	6	1131	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	SFSWAP_uc010tbn.1_Missense_Mutation_p.R331C|SFSWAP_uc001ujb.1_Missense_Mutation_p.R124C|SFSWAP_uc001uiz.1_Missense_Mutation_p.R205C	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	331					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding	p.R331C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTTGTTCGTAAGGCACA	0.552000														35			9		0	0	0.006214	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494891	1494891	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:1494891G>A	uc003jcm.3	-	2	534	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	139					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.Y138D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGATGGCGTCGAAGTAGGACG	0.652000														35			13		0	0	0.001855	0	0
COL10A1	1300	broad.mit.edu	37	6	116442510	116442510	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:116442510C>T	uc003pwm.3	-	2	865	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	257	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGCCCTCGTTCCCCAGGAGGG	0.592000														12			15		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736894	140736894	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140736894G>A	uc003ljq.2	+	0	2127	c.2127G>A	c.(2125-2127)acG>acA	p.T709T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.T709T|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTGTCACGGTGCTGCTAG	0.617000														14			9		0	0	0.004482	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050787	196050787	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:196050787G>A	uc010iad.2	-	4	685	c.527C>T	c.(526-528)tCt>tTt	p.S176F	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_Missense_Mutation_p.E18K|TM4SF19_uc003fwl.2_Silent_p.F177F|TM4SF19_uc021xjs.1_Missense_Mutation_p.S176F|TM4SF19_uc011btv.2_Silent_p.F151F	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAGGGCGGAGAAGAGGGACA	0.547000														18			21		0	0	0.001882	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678260	66678260	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:66678260G>A	uc002lkk.2	+	8	1576	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V	CCDC102B_uc002lki.2_Silent_p.V451V	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	451										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)				ACAACCGAGTGGATCAAAATG	0.368000														20			7		0	0	0.003080	0	0
ACSL6	23305	broad.mit.edu	37	5	131290047	131290047	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:131290047G>A	uc003kvx.2	-	20	2158	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	ACSL6_uc003kvv.1_Intron|ACSL6_uc003kwb.3_Silent_p.I648I|ACSL6_uc003kvy.2_Silent_p.I683I|ACSL6_uc003kvz.2_Silent_p.I583I|ACSL6_uc021ydh.1_Silent_p.I583I|ACSL6_uc010jdo.2_Silent_p.I658I|ACSL6_uc003kwa.2_Silent_p.I669I|ACSL6_uc003kvw.2_Silent_p.I304I|ACSL6_uc010jdn.2_Silent_p.I673I	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	658					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCAGAATGGATGTGAATGG	0.363000														14			10		0	0	0.008291	0	0
FA2H	79152	broad.mit.edu	37	16	74752922	74752922	+	Silent	SNP	G	A	A	rs146684287		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:74752922G>A	uc002fde.2	-	4	826	c.750C>T	c.(748-750)atC>atT	p.I250I	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	250					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AGTGCAGCATGATGAGGTAAT	0.632000														38			24		0	0	0.005443	0	0
TOP3A	7156	broad.mit.edu	37	17	18205274	18205274	+	Silent	SNP	G	A	A	rs34430764	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:18205274G>A	uc002gsx.1	-	7	1069	c.840C>T	c.(838-840)atC>atT	p.I280I	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.I178I|TOP3A_uc010cqa.1_Non-coding_Transcript	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	280					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.I280I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGAATTCTACGATACCATCTT	0.403000														15			6		0	0	0.001984	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157282	26157282	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:26157282C>T	uc022bub.1	+	0	180	c.180C>T	c.(178-180)atC>atT	p.I60I	MAGEB18_uc004dbq.2_Silent_p.I60I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	60							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACCTAGCATCCCTGAAGCGC	0.537000														25			9		0	0	0.008291	0	0
TCRA	0	broad.mit.edu	37	14	22636337	22636337	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22636337C>T	uc001wdi.2	+	0	45	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		GGAGACTCTCCTGAAAGTGCT	0.468000														68			69		0	0	0.003610	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455437	62455437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:62455437G>A	uc021qkm.1	-	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S	LRRN4CL_uc001nun.3_Missense_Mutation_p.P182S	NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	Homo sapiens LRRN4 C-terminal like (LRRN4CL), mRNA.	182						integral to membrane				cervix(1)|kidney(1)	2						CGGCTGCAAGGCCCGAAGGCA	0.721000														0			5		0	0	0.000602	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115900	75115900	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:75115900G>A	uc002ayt.1	+	12	1202	c.1200_splice	c.e12-1	p.R400_splice	LMAN1L_uc010bke.1_Splice_Site_p.R388_splice|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	400						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCGGTTAGGGATGCAGCTG	0.552000														47			21		0	0	0.002299	0	0
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:71804103C>T	uc011bge.2	+	0	903	c.903C>T	c.(901-903)gtC>gtT	p.V301V	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	301						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V301V(2)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.672000														26			5		0	0	0.001168	0	0
CPS1	1373	broad.mit.edu	37	2	211473172	211473172	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:211473172C>T	uc010fur.3	+	19	2380	c.2298C>T	c.(2296-2298)gcC>gcT	p.A766A	CPS1_uc002vee.4_Silent_p.A760A|CPS1_uc010fus.3_Silent_p.A309A	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	760					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGACATCAGCCTGTTTTGAAC	0.448000														46			29		0	0	0.008361	0	0
SYTL5	94122	broad.mit.edu	37	X	37913546	37913546	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37913546G>A	uc004ddx.3	+	1	556	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	SYTL5_uc004ddu.3_Missense_Mutation_p.C67Y|SYTL5_uc004ddv.3_Missense_Mutation_p.C67Y	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	67	RabBD.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTGTTCACTGTCACAGAAAC	0.498000														31			7		0	0	0.001984	0	0
ETFB	2109	broad.mit.edu	37	19	51850297	51850297	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:51850297G>A	uc002pwh.3	-	4	546	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	ETFB_uc002pwg.3_Nonsense_Mutation_p.Q243*	NM_001985	NP_001976	P38117	ETFB_HUMAN	Homo sapiens electron-transfer-flavoprotein, beta polypeptide (ETFB), transcript variant 1, mRNA.	152					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AGCGTCACCTGGGAGGCGAAT	0.607000														13			10		0	0	0.000978	0	0
ADAM28	10863	broad.mit.edu	37	8	24157543	24157543	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:24157543A>G	uc003xdy.3	+	1	186	c.103A>G	c.(103-105)Aga>Gga	p.R35G	ADAM28_uc003xdx.3_Missense_Mutation_p.R35G|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	35					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTATCCTATAAGACTTCATCC	0.368000														36			12		0	0	0.002450	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171149	4171149	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:4171149G>A	uc002lzl.3	+	7	1068	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	CREB3L3_uc002lzm.3_Missense_Mutation_p.A308T|CREB3L3_uc010xib.2_Missense_Mutation_p.A307T|CREB3L3_uc010xic.2_Missense_Mutation_p.S273N	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	318					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAAGTCAGCCCAGACAGG	0.607000														23			11		0	0	0.001855	0	0
TDRD3	81550	broad.mit.edu	37	13	61103108	61103108	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:61103108C>T	uc001vhz.4	+	10	2258	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	TDRD3_uc010aef.2_Silent_p.F315F|TDRD3_uc001via.3_Silent_p.F490F|TDRD3_uc010aeg.3_Silent_p.F583F|TDRD3_uc001vib.4_Silent_p.F489F	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	490					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GTAATAGTTTCATTGGTGTTC	0.348000														10			6		0	0	0.001168	0	0
COL6A2	1292	broad.mit.edu	37	21	47532471	47532471	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:47532471A>G	uc002zia.1	+	2	776	c.694A>G	c.(694-696)Aac>Gac	p.N232D	COL6A2_uc002zhz.1_Missense_Mutation_p.N232D|COL6A2_uc002zhy.1_Missense_Mutation_p.N232D	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	232	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGACACCATCAACCGCATCAT	0.682000														14			4		0	0	0.000248	0	0
GNB3	2784	broad.mit.edu	37	12	6952642	6952642	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6952642C>T	uc001qrd.3	+	6	788	c.383C>T	c.(382-384)tCc>tTc	p.S128F	GNB3_uc001qrc.3_Missense_Mutation_p.S84F|GNB3_uc009zfe.3_Missense_Mutation_p.S128F	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	128					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						AACCTCAAATCCCGTGAGGGC	0.592000														31			13		0	0	0.002450	0	0
NPTXR	23467	broad.mit.edu	37	22	39219155	39219155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:39219155G>A	uc003awk.3	-	3	1365	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	404	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GTTCTCACCGGAGCCCTGCAG	0.617000														47			23		0	0	0.005443	0	0
CERS3	204219	broad.mit.edu	37	15	101019668	101019668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:101019668C>T	uc002bwa.3	-	8	1085	c.514G>A	c.(514-516)Gac>Aac	p.D172N	CERS3_uc002bvz.3_Missense_Mutation_p.D161N|CERS3_uc002bwb.3_Missense_Mutation_p.D161N	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	161	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCCATAAGTCATATAGCCAA	0.383000														23			13		0	0	0.001855	0	0
OGDHL	55753	broad.mit.edu	37	10	50946014	50946014	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:50946014G>A	uc009xog.3	-	17	2611	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	OGDHL_uc001jie.3_Silent_p.I832I|OGDHL_uc010qgt.2_Silent_p.I775I|OGDHL_uc010qgu.2_Silent_p.I623I	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	832					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGGCAGCAGGATCTGCCGGC	0.642000														77			14		0	0	0.006122	0	0
ZNF157	7712	broad.mit.edu	37	X	47272815	47272815	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47272815G>A	uc004dhr.1	+	3	1412	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	448					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGTGAATGTGGAAATGCCTTC	0.433000														21			4		0	0	0.000602	0	0
CARS	833	broad.mit.edu	37	11	3050296	3050296	+	Silent	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:3050296A>G	uc001lxf.3	-	8	1045	c.961T>C	c.(961-963)Tta>Cta	p.L321L	CARS_uc010qxo.2_Silent_p.L321L|CARS_uc001lxe.3_Silent_p.L228L|CARS_uc001lxg.3_Silent_p.L238L|CARS_uc001lxh.3_Silent_p.L238L|CARS_uc010qxp.2_Silent_p.L251L|AX747870_uc001lxi.1_5'Flank	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	238					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACCCGGGTTAAGACATCTGGA	0.478000			T	ALK	ALCL									14			24		0	0	0.002780	0	0
SEC24A	10802	broad.mit.edu	37	5	134028336	134028336	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:134028336G>A	uc003kzs.3	+	11	2060	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	SEC24A_uc021ydr.1_Missense_Mutation_p.E590K|SEC24A_uc011cxu.2_Missense_Mutation_p.E354K	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	590					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACTTAAATGAAAGTAAAGA	0.244000														24			13		0	0	0.004990	0	0
CLSPN	63967	broad.mit.edu	37	1	36214053	36214053	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:36214053G>A	uc001bzi.3	-	12	2505	c.2425C>T	c.(2425-2427)Cct>Tct	p.P809S	CLSPN_uc009vux.3_Missense_Mutation_p.P745S	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	809					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGGGGAAGGAGATCTGAAT	0.488000														56			24		0	0	0.005443	0	0
INSRR	3645	broad.mit.edu	37	1	156812223	156812223	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156812223C>T	uc010pht.2	-	17	3503	c.3204G>A	c.(3202-3204)aaG>aaA	p.K1068K	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1068	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATGGCTCTTGAGGTCCC	0.597000														61			23		0	0	0.003330	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909364	909364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:909364G>A	uc001ace.3	+	12	1777	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	PLEKHN1_uc001acd.3_Missense_Mutation_p.R529K|PLEKHN1_uc001acf.3_Missense_Mutation_p.R494K	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	581										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGCAGTCCAGAGCCGCTCAG	0.706000														8			5		0	0	0.000602	0	0
BMP5	653	broad.mit.edu	37	6	55739275	55739275	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55739275G>A	uc003pcq.3	-	0	1101	c.389C>T	c.(388-390)tCt>tTt	p.S130F	BMP5_uc011dxf.2_Missense_Mutation_p.S130F	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	130					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGTCGTCCGAGATAACTGTAT	0.517000														22			15		0	0	0.004007	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503282	110503282	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110503282G>A	uc003yne.3	+	60	10170	c.10066G>A	c.(10066-10068)Gat>Aat	p.D3356N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3356					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D3358H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTGGGACAGATGGATTGGA	0.388000										HNSCC(38;0.096)				54			13		0	0	0.001368	0	0
OR13C8	138802	broad.mit.edu	37	9	107332344	107332344	+	Missense_Mutation	SNP	G	A	A	rs148995087	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:107332344G>A	uc011lvo.2	+	0	896	c.896G>A	c.(895-897)cGa>cAa	p.R299Q		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L298M(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATAGTCTGCGAAACAAGGAT	0.378000														3			41		0	0	0.006230	0	0
GPR116	221395	broad.mit.edu	37	6	46828529	46828529	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:46828529C>T	uc003oyo.3	-	15	2591	c.2302G>A	c.(2302-2304)Ggg>Agg	p.G768R	GPR116_uc011dwj.1_Missense_Mutation_p.G323R|GPR116_uc011dwk.1_Missense_Mutation_p.G197R|GPR116_uc003oyp.3_Missense_Mutation_p.G626R|GPR116_uc003oyq.3_Missense_Mutation_p.G768R|GPR116_uc010jzi.1_Missense_Mutation_p.G440R	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	768					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCCAGACTCCCAGGAGAAGAG	0.438000														29			15		0	0	0.004007	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749933	8749933	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:8749933G>A	uc003wsj.1	-	0	1199	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	212										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCCGGTTGCTGGACACGTCCA	0.692000														5			6		0	0	0.001168	0	0
SFI1	9814	broad.mit.edu	37	22	31979912	31979912	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:31979912G>A	uc003ale.3	+	12	1693	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	SFI1_uc003ald.1_Missense_Mutation_p.E410K|SFI1_uc003alf.3_Missense_Mutation_p.E403K|SFI1_uc003alg.3_Missense_Mutation_p.E352K|SFI1_uc011alp.2_Missense_Mutation_p.E352K|SFI1_uc011alq.2_Missense_Mutation_p.E379K|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	434					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCAGAAAAAGGAAAGAGAGCT	0.507000														112			53		0	0	0.003610	0	0
C1orf87	127795	broad.mit.edu	37	1	60456423	60456423	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:60456423G>A	uc001czs.2	-	11	1671	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	C1orf87_uc001czr.1_Silent_p.I113I	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	521							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCCTGGTCGATTTTCTGAG	0.483000														116			63		0	0	0.003610	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326656	74326656	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:74326656G>A	uc010wtb.1	-	4	467	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PRPSAP1_uc010wta.1_Silent_p.F185F	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	156					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACTGAAGCAGGAAAGGTGAGG	0.393000														34			15		0	0	0.004990	0	0
CDH23	64072	broad.mit.edu	37	10	73553033	73553033	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:73553033C>T	uc001jrx.4	+	45	6729	c.6339C>T	c.(6337-6339)ttC>ttT	p.F2113F	CDH23_uc001jsg.4_5'Flank|CDH23_uc001jsh.4_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2116	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGACCGCTTCCTCATTCATC	0.577000														18			11		0	0	0.008291	0	0
L1TD1	54596	broad.mit.edu	37	1	62672774	62672774	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:62672774G>A	uc021ooc.1	+	3	909	c.474G>A	c.(472-474)aaG>aaA	p.K158K	L1TD1_uc001dae.4_Silent_p.K158K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	158										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						atgatggtaagaaattacccc	0.338000														8			5		0	0	0.000602	0	0
KALRN	8997	broad.mit.edu	37	3	124397085	124397085	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:124397085G>A	uc003ehg.3	+	49	7369	c.7242G>A	c.(7240-7242)gtG>gtA	p.V2414V	KALRN_uc003ehk.3_Silent_p.V717V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2413					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGCGGAAGTGGAGAACACGG	0.483000														52			16		0	0	0.004007	0	0
ACSM4	341392	broad.mit.edu	37	12	7475910	7475910	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:7475910G>A	uc001qsx.1	+	8	1206	c.1206_splice	c.e8+1	p.Q402_splice		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGATGTCCAGGTAGGTTGAG	0.398000														7			3		0	0	0.004672	0	0
PMS2P3	5387	broad.mit.edu	37	7	75140349	75140349	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:75140349G>A	uc022agi.1	-	7		c.1284C>T			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						GGGGGTAGGGGGTTTCCTGGA	0.498000														59			29		0	0	0.008361	0	0
RAD23A	5886	broad.mit.edu	37	19	13063555	13063556	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:13063555_13063556GG>AA	uc002mvw.1	+	7	975_976	c.866_867GG>AA	c.(865-867)ggg>gAA	p.G289E	RAD23A_uc002mvz.1_Missense_Mutation_p.G288E|RAD23A_uc010xmw.1_Missense_Mutation_p.G124E	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	289					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAGCCCCCTGGGGAGCTGGCGG	0.619000								Nucleotide excision repair (NER)						31			12		0	0	0.004672	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481316	142481316	+	Silent	SNP	T	C	C	rs140068138	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142481316T>C	uc011ksq.2	+	2	473	c.390T>C	c.(388-390)acT>acC	p.T130T	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTCTGCCCACTGCCCCTCCAG	0.547000														12			3		0	0	0.004482	0	0
KRT75	9119	broad.mit.edu	37	12	52820623	52820623	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52820623C>T	uc001saj.2	-	7	1417	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	465	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGAAACTCCCTCTCCACTCA	0.493000														11			14		0	0	0.004990	0	0
KRT85	3891	broad.mit.edu	37	12	52760878	52760878	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52760878G>A	uc001sag.3	-	0	432	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	104	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGGCGTGAGGAGGCTCTCGT	0.652000														51			43		0	0	0.003610	0	0
CACNB1	782	broad.mit.edu	37	17	37340360	37340360	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:37340360G>A	uc002hrm.2	-	9	1030	c.822C>T	c.(820-822)tcC>tcT	p.S274S	CACNB1_uc002hrl.1_Silent_p.S46S|CACNB1_uc002hrn.3_Silent_p.S274S|CACNB1_uc002hro.3_Silent_p.S319S	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	274					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCTTAGCCAGGGAAATATCTG	0.582000														17			14		0	0	0.004990	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020668	58020668	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:58020668C>T	uc001spg.1	-	10	1893	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	B4GALNT1_uc010sru.2_Silent_p.L432L	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	487					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGGCAGCTTCAGTTTGGATG	0.587000														16			7		0	0	0.004482	0	0
HTR7	3363	broad.mit.edu	37	10	92503376	92503376	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:92503376G>A	uc001kha.3	-	2	1610	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	HTR7_uc001kgz.3_Intron|HTR7_uc001khb.3_Intron	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	456					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ATGGTCTGGAGATTGTAGCAC	0.488000														33			15		0	0	0.004990	0	0
VEGFC	7424	broad.mit.edu	37	4	177609040	177609040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:177609040C>T	uc003ius.1	-	4	1176	c.746G>A	c.(745-747)tGg>tAg	p.W249*		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	249					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTGATTATTCCACATGTAATT	0.463000														30			21		0	0	0.003330	0	0
PRKAG2	51422	broad.mit.edu	37	7	151261232	151261232	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:151261232C>T	uc003wkk.3	-	13	2127	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PRKAG2_uc003wki.3_Missense_Mutation_p.E265K|PRKAG2_uc011kvl.2_Missense_Mutation_p.E381K|PRKAG2_uc003wkj.3_Missense_Mutation_p.E462K|PRKAG2_uc003wkl.2_Missense_Mutation_p.E54K	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	506	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		ACAACACCTTCAAAATACTGT	0.463000														32			24		0	0	0.003330	0	0
OR5B17	219965	broad.mit.edu	37	11	58126414	58126414	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:58126414C>T	uc010rke.2	-	0	129	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G42E(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTAATATGATCATCCCCAGGT	0.473000														12			19		0	0	0.001523	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510755	110510755	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110510755C>T	uc003yne.3	+	65	10768	c.10664C>T	c.(10663-10665)cCt>cTt	p.P3555L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3555					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGATGATCCTAATATTGAA	0.348000										HNSCC(38;0.096)				19			18		0	0	0.002299	0	0
PLCB1	23236	broad.mit.edu	37	20	8639324	8639324	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:8639324G>A	uc002wnb.3	+	8	838	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB1_uc010zrb.1_Missense_Mutation_p.E178K|PLCB1_uc002wna.3_Missense_Mutation_p.E279K|PLCB1_uc002wnc.1_Missense_Mutation_p.E178K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	279					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGAAGTATGAACCCAACAA	0.433000														63			12		0	0	0.002450	0	0
ANKRD44	91526	broad.mit.edu	37	2	197870442	197870442	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:197870442G>A	uc021vuj.1	-	20	2516	c.2323C>T	c.(2323-2325)Ccg>Tcg	p.P775S	ANKRD44_uc002utz.4_Missense_Mutation_p.P482S|ANKRD44_uc021vuk.1_Missense_Mutation_p.P750S	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	775							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGTGCAGCGGCGTGTAGCCT	0.532000														36			31		0	0	0.002836	0	0
DGKI	9162	broad.mit.edu	37	7	137092653	137092653	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:137092653T>G	uc003vtt.3	-	30	2913	c.2912A>C	c.(2911-2913)aAc>aCc	p.N971T	DGKI_uc003vtu.3_Missense_Mutation_p.N640T	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	971					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AATCTCCCCGTTGCCGGTTTT	0.428000														36			29		0	0	0.008361	0	0
SENP1	29843	broad.mit.edu	37	12	48491808	48491808	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:48491808G>A	uc001rqx.3	-	2	550	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SENP1_uc001rqw.3_Missense_Mutation_p.P35L|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.P35L	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	35					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTGGTCCTCTGGAAAACCTGT	0.408000														11			4		0	0	0.000248	0	0
CBL	867	broad.mit.edu	37	11	119149279	119149279	+	Silent	SNP	C	T	T	rs148368481		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:119149279C>T	uc001pwe.3	+	8	1425	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	429	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.I429_F434del(2)|p.E366_K477del(2)|p.G397_I429del(2)|p.I429I(2)|p.K322_D460del(1)|p.P428L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGAACCCATCGTGGTAGATC	0.473000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					16			29		0	0	0.008361	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310695	61310695	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:61310695C>T	uc002ljf.3	-	1	203	c.117G>A	c.(115-117)ggG>ggA	p.G39G	SERPINB3_uc002lje.3_Silent_p.G39G|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	39					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGAGGACCATCCCTAATGCTG	0.423000														24			43		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167096042	167096042	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:167096042G>A	uc001geb.1	+	4	1690	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	558					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GATTTCACAAGAAAGACTTGG	0.552000														45			25		0	0	0.003330	0	0
RAET1K	646024	broad.mit.edu	37	6	150321297	150321297	+	RNA	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:150321297G>A	uc003qnq.3	-	2		c.922C>T								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		CATGGCTTTGGGTTGGGTTGT	0.552000														1			6		0	0	0.001984	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746675	90746675	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:90746675G>A	uc011lti.2	-	3	1306	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	426																	GTTAGGAGTGGAGACACTAAA	0.488000														59			77		0	0	0.003610	0	0
VIT	5212	broad.mit.edu	37	2	37036010	37036010	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:37036010C>T	uc002rpl.3	+	14	2087	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	VIT_uc002rpm.3_Silent_p.F580F|VIT_uc010ezv.3_Silent_p.F558F|VIT_uc010ezw.3_Silent_p.F559F	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	580	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCATCAACTTCGCCCTGGAGC	0.577000														30			15		0	0	0.004990	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174023	63174023	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:63174023G>A	uc001nww.3	+	6	1396	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	376					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGCATCTGGGGAACAATGTTT	0.443000														12			29		0	0	0.003755	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402363	47402363	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:47402363G>A	uc001cqp.4	-	3	534	c.483C>T	c.(481-483)ctC>ctT	p.L161L	CYP4A11_uc001cqq.2_Silent_p.L161L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	161					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGTCTGCCATGAGCCCCACAT	0.562000														22			15		0	0	0.004990	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337173	151337173	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:151337173G>A	uc010pcy.2	-	11	1521	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F	SELENBP1_uc001exx.3_Missense_Mutation_p.S422F|SELENBP1_uc010pcz.2_Missense_Mutation_p.S360F|SELENBP1_uc001eya.3_Missense_Mutation_p.S358F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	422					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCATCACAGAGCCTTCCCT	0.557000														87			29		0	0	0.007291	0	0
GALNT6	11226	broad.mit.edu	37	12	51773256	51773256	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:51773256C>T	uc001ryk.2	-	1	535	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E104K|GALNT6_uc010snh.1_Missense_Mutation_p.E104K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	104					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						GGTGGCCGTTCCCAGAAGGGC	0.567000														53			11		0	0	0.001368	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508427	37508427	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:37508427C>T	uc021ppc.1	+	33	3718	c.3619C>T	c.(3619-3621)Cta>Tta	p.L1207L	ANKRD30A_uc001iza.1_Silent_p.L1207L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCCAAAAGCCTAAAAATTAA	0.353000														9			8		0	0	0.004482	0	0
SLC12A2	6558	broad.mit.edu	37	5	127474346	127474346	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:127474346C>T	uc003kus.3	+	7	1630	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.S489F	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	489					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTTTCTTTTCTGTATTTGCC	0.358000														31			12		0	0	0.001855	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482344	140482344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140482344C>T	uc003lio.3	+	0	2111	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.692000														82			70		0	0	0.003610	0	0
ZNF839	55778	broad.mit.edu	37	14	102792712	102792712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:102792712C>T	uc010awk.1	+	1	686	c.679C>T	c.(679-681)Cca>Tca	p.P227S	ZNF839_uc001ylo.2_Missense_Mutation_p.P111S|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.P111S|ZNF839_uc001ylr.2_Missense_Mutation_p.P111S	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	111						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCAGCACATCCATTTATTTC	0.458000														5			3		0	0	0.004672	0	0
SBSN	374897	broad.mit.edu	37	19	36017803	36017803	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:36017803C>T	uc002oad.2	-	0	1451	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	118						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGTGAACTCCCTGGCCAAAC	0.602000														7			3		0	0	0.004672	0	0
IRX1	79192	broad.mit.edu	37	5	3599741	3599742	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:3599741_3599742AG>TA	uc003jde.3	+	1	731_732	c.679_680AG>TA	c.(679-681)agc>TAc	p.S227Y		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGACCTGGAAAGCATCGACATT	0.649000														17			17		0	0	0.004672	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117491	117491	+	RNA	SNP	G	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrGL000205.1:117491G>C	uc002kgk.4	+	0		c.869G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGCAGGTGGGCAGTGGCTAC	0.582000														17			3		0	0	0.004672	0	0
GIPC3	126326	broad.mit.edu	37	19	3589544	3589545	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3589544_3589545GG>TT	uc002lyd.4	+	3	723_724	c.696_697GG>TT	c.(694-699)gtggag>gtTTag	p.E233*		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	233										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCACagtggaggaagcggt	0.609000														33			17		0	0	0.004672	0	0
PLTP	5360	broad.mit.edu	37	20	44538677	44538677	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44538677G>A	uc002xqm.2	-	2	828	c.293C>T	c.(292-294)tCc>tTc	p.S98F	PLTP_uc002xql.2_5'UTR|PLTP_uc010zxj.2_Intron|PLTP_uc002xqq.2_Missense_Mutation_p.S47F|PLTP_uc002xqn.2_Missense_Mutation_p.S78F|PLTP_uc002xqo.2_Missense_Mutation_p.S78F	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	78					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				ATCGAGCTCGGAAGATGTCAG	0.547000														14			31		0	0	0.007291	0	0
OR1D2	4991	broad.mit.edu	37	17	2995575	2995575	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:2995575G>A	uc010vrb.2	-	0	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	239					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGCACAGGTGGAGAAGGCTTT	0.458000														47			36		0	0	0.003755	0	0
GSTCD	79807	broad.mit.edu	37	4	106755689	106755689	+	Silent	SNP	C	T	T	rs137883958	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:106755689C>T	uc003hxz.4	+	8	1674	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	GSTCD_uc003hxy.4_Silent_p.F447F|GSTCD_uc011cfb.2_Silent_p.F157F	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	534						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GGGCTTCCTTCGTCACATGCC	0.423000														52			13		0	0	0.002450	0	0
ZFR	51663	broad.mit.edu	37	5	32385739	32385739	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:32385739T>A	uc003jhr.1	-	14	2596	c.2516A>T	c.(2515-2517)aAg>aTg	p.K839M	ZFR_uc010ium.1_5'Flank|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	839	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.E838K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATGTCATACTTCTCAGGGCT	0.348000														34			12		0	0	0.000978	0	0
SCN9A	6335	broad.mit.edu	37	2	167137063	167137063	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:167137063C>T	uc010fpl.3	-	13	2455	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	716						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTGTGCAAATCTGTACCACCA	0.373000														7			5		0	0	0.001984	0	0
ATP10A	57194	broad.mit.edu	37	15	25967028	25967028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:25967028G>A	uc010ayu.3	-	6	1245	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	380					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AATTTCAATGGAAACGTATAA	0.448000														35			25		0	0	0.003330	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909488	24909488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:24909488G>A	uc001isb.2	-	8	1823	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Nonsense_Mutation_p.R446*|ARHGAP21_uc010qdc.1_Nonsense_Mutation_p.R281*|ARHGAP21_uc001isc.1_Nonsense_Mutation_p.R436*	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	445					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGGGCACTCGATCATGAGAG	0.493000														13			8		0	0	0.003163	0	0
TLE6	79816	broad.mit.edu	37	19	2987089	2987089	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:2987089C>T	uc002lwt.2	+	6	503	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	TLE6_uc002lwu.2_Missense_Mutation_p.L9F	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGACTGGCTCCGGCGGCC	0.627000														39			22		0	0	0.002299	0	0
OR10A7	121364	broad.mit.edu	37	12	55615224	55615224	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55615224C>T	uc010spf.2	+	0	416	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATGAACAGGTCCCTATGCTTG	0.468000														32			13		0	0	0.001368	0	0
SELE	6401	broad.mit.edu	37	1	169697230	169697230	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169697230C>T	uc001ggm.4	-	7	1405	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	416	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTCCCACTCCCCTGTGGGGC	0.458000														102			31		0	0	0.008361	0	0
PRR23B	389151	broad.mit.edu	37	3	138738740	138738740	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:138738740G>A	uc003esy.1	-	0	1029	c.764C>T	c.(763-765)cCg>cTg	p.P255L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	255	Pro-rich.							p.P254L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCTTGCACGGAGGGCGTTC	0.677000														32			9		0	0	0.006214	0	0
XIRP2	129446	broad.mit.edu	37	2	168101944	168101944	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:168101944C>T	uc002udx.3	+	8	4131	c.4042C>T	c.(4042-4044)Cga>Tga	p.R1348*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.R1173*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.R1126*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1173					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						TGGAGATGTGCGAGGAACAAG	0.383000														19			11		0	0	0.000978	0	0
TMEM74	157753	broad.mit.edu	37	8	109797304	109797304	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:109797304C>T	uc003ymy.1	-	1	129	c.24G>A	c.(22-24)aaG>aaA	p.K8K	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.K8K	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	8					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGTTGCTCTTCTTAGCAAGGT	0.537000														15			9		0	0	0.004482	0	0
SERPINA6	866	broad.mit.edu	37	14	94780718	94780718	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:94780718G>T	uc001ycv.3	-	1	372	c.268C>A	c.(268-270)Ctc>Atc	p.L90I	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	90					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGGCCCTGGAGAAGCTGGGCC	0.547000														11			8		0.00307968	0.00363758	0.003080	1	0
CD96	10225	broad.mit.edu	37	3	111264049	111264049	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111264049C>T	uc003dxw.3	+	1	388	c.218C>T	c.(217-219)cCc>cTc	p.P73L	CD96_uc003dxv.3_Missense_Mutation_p.P73L|CD96_uc003dxx.3_Missense_Mutation_p.P73L|CD96_uc010hpy.1_Missense_Mutation_p.P73L	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	73	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GTCTATCATCCCCAATACGGC	0.478000									Opitz Trigonocephaly syndrome					51			17		0	0	0.004007	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800768	26800768	+	Silent	SNP	C	T	T	rs149483004	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:26800768C>T	uc001iss.3	+	6	945	c.624C>T	c.(622-624)ttC>ttT	p.F208F	APBB1IP_uc009xks.1_Silent_p.F208F	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	208	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACAACCTTTTCGAGAAAACTC	0.483000														30			22		0	0	0.003330	0	0
AKR1C4	1109	broad.mit.edu	37	10	5254636	5254636	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:5254636G>A	uc001ihw.2	+	5	661	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	210					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CAAGTCAAAAGACATTGTTCT	0.388000														28			5		0	0	0.000602	0	0
SEC24D	9871	broad.mit.edu	37	4	119659432	119659432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:119659432G>A	uc003ici.4	-	18	2752	c.2480C>T	c.(2479-2481)cCt>cTt	p.P827L	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.P828L|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	827					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGCTGCAGAAGGACTTGCACA	0.423000														45			12		0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38718300	38718300	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:38718300A>G	uc021yzh.1	+	8	1451	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	DNAH8_uc003ooe.2_Missense_Mutation_p.K231E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGAATCCAAAGATAATGT	0.313000														42			15		0	0	0.008871	0	0
DTNBP1	84062	broad.mit.edu	37	6	15651588	15651589	+	Missense_Mutation	DNP	AA	CC	CC			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:15651588_15651589AA>CC	uc003nbm.3	-	2	305_306	c.116_117TT>GG	c.(115-117)gtt>gGG	p.V39G	DTNBP1_uc003nbl.3_5'UTR|DTNBP1_uc010jph.3_Missense_Mutation_p.V26G|DTNBP1_uc003nbp.3_Missense_Mutation_p.V39G	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	39					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAAAAATGGAACAGTCCTGCC	0.322000									Hermansky-Pudlak syndrome					93			25		0	0	0.004672	0	0
GABRA1	2554	broad.mit.edu	37	5	161300146	161300147	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:161300146_161300147CC>AT	uc010jiw.3	+	5	747_748	c.279_280CC>AT	c.(277-282)ttccgt>ttATgt	p.93_94FR>LC	GABRA1_uc010jix.3_Missense_Mutation_p.93_94FR>LC|GABRA1_uc010jiy.3_Missense_Mutation_p.93_94FR>LC|GABRA1_uc003lyx.4_Missense_Mutation_p.93_94FR>LC|GABRA1_uc010jiz.3_Missense_Mutation_p.93_94FR>LC|GABRA1_uc010jja.3_Missense_Mutation_p.93_94FR>LC|GABRA1_uc010jjb.3_Missense_Mutation_p.93_94FR>LC	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	93					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R94C(2)|p.R94H(2)|p.F93F(2)|p.R94L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATGTATTTTTCCGTCAAAGCTG	0.371000														48			25		0	0	0.004672	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509589	125509589	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:125509589C>T	uc001uha.1	+	2	512	c.369C>T	c.(367-369)gcC>gcT	p.A123A	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	123						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GCAGCCCGGCCCGCGCGCTCC	0.652000														12			7		0	0	0.003080	0	0
TECTA	7007	broad.mit.edu	37	11	121000383	121000383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:121000383C>T	uc010rzo.2	+	8	2404	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	802	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTTTCCATCCTTCGGGGAA	0.428000														15			34		0	0	0.002836	0	0
ATP2B4	493	broad.mit.edu	37	1	203689771	203689771	+	Missense_Mutation	SNP	G	A	A	rs147313187		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:203689771G>A	uc001gzw.3	+	15	3398	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	ATP2B4_uc001gzv.3_Missense_Mutation_p.R834Q|ATP2B4_uc009xaq.3_Missense_Mutation_p.R834Q|ATP2B4_uc001gzx.3_5'Flank|ATP2B4_uc009xar.3_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	834					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGTGGGGACGAAATGTCTAT	0.512000														39			11		0	0	0.008291	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800856	185800856	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:185800856G>A	uc002uph.3	+	3	1327	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	245						intracellular	zinc ion binding	p.G245R(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGTGGGAAAAGGATTTAGCAG	0.423000														34			17		0	0	0.006122	0	0
ATP1A3	478	broad.mit.edu	37	19	42492102	42492102	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42492102G>A	uc002osh.3	-	3	497	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	ATP1A3_uc010xwf.2_Missense_Mutation_p.P126S|ATP1A3_uc010xwg.2_Missense_Mutation_p.P85S|ATP1A3_uc002osg.3_Missense_Mutation_p.P115S|ATP1A3_uc010xwh.2_Missense_Mutation_p.P128S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	115					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCACCAGAGGGGTCGTCCTCG	0.602000														51			29		0	0	0.008361	0	0
NEB	4703	broad.mit.edu	37	2	152359377	152359377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:152359377C>T	uc021vrb.1	-	137	18784	c.18755G>A	c.(18754-18756)gGg>gAg	p.G6252E	NEB_uc002txr.3_Intron|NEB_uc002txu.3_Missense_Mutation_p.G7953E|NEB_uc021vrc.1_Missense_Mutation_p.G7953E|NEB_uc010fnx.3_Missense_Mutation_p.G6240E|NEB_uc021vrd.1_Missense_Mutation_p.G6252E|RIF1_uc002txp.3_Intron|NEB_uc002txq.3_Missense_Mutation_p.G38E|NEB_uc010zca.2_Intron|NEB_uc010zcb.2_Intron|NEB_uc002txt.4_Intron	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6252					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTCCTTTCCCCAAATTTTC	0.418000														10			8		0	0	0.008291	0	0
SPG21	51324	broad.mit.edu	37	15	65262507	65262507	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65262507G>A	uc002aod.3	-	5	599	c.506C>T	c.(505-507)tCa>tTa	p.S169L	SPG21_uc002aoe.3_Missense_Mutation_p.S169L|SPG21_uc010bhb.3_Missense_Mutation_p.S142L	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	169					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGGGCCAGATGAAAAATTTCC	0.398000														144			72		0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134000	233134000	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:233134000T>C	uc001hvl.2	-	31	6023	c.5788A>G	c.(5788-5790)Aca>Gca	p.T1930A	PCNXL2_uc001hvk.1_Missense_Mutation_p.T582A|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1930						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CACCCACCTGTTCTCTGTGTC	0.552000														10			6		0	0	0.001984	0	0
SCN9A	6335	broad.mit.edu	37	2	167055491	167055491	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:167055491C>T	uc010fpl.3	-	26	5966	c.5625G>A	c.(5623-5625)cgG>cgA	p.R1875R	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1875W(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCTCTTGTTTCCGTTTTAGTG	0.403000														73			49		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22471846	22471846	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22471846C>T	uc001wct.4	+	1	374	c.269C>T	c.(268-270)tCc>tTc	p.S90F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		AGTGACAGTTCCTTCCACCTG	0.552000														16			10		0	0	0.006214	0	0
MYLK	4638	broad.mit.edu	37	3	123419745	123419745	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:123419745C>T	uc003ego.3	-	17	2852	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	MYLK_uc011bjw.2_Missense_Mutation_p.G857E|MYLK_uc003egp.3_Missense_Mutation_p.G788E|MYLK_uc003egq.3_Missense_Mutation_p.G857E|MYLK_uc003egr.3_Missense_Mutation_p.G788E|MYLK_uc003egs.3_Missense_Mutation_p.G681E|MYLK_uc003egt.3_Missense_Mutation_p.G48E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	857					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCAACCCTGCCCTCTTGCTGG	0.657000														26			26		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179553825	179553825	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179553825C>T	uc021vsy.1	-	121	28543	c.28318G>A	c.(28318-28320)Gtt>Att	p.V9440I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6101I|TTN_uc010fre.1_Missense_Mutation_p.V551I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10367	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D9440N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACTGCAACTTTCTCCTCT	0.418000														44			18		0	0	0.002299	0	0
PRKCB	5579	broad.mit.edu	37	16	24124306	24124306	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:24124306G>A	uc002dmd.3	+	7	1031	c.834G>A	c.(832-834)ctG>ctA	p.L278L	PRKCB_uc002dme.3_Silent_p.L278L	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	278					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTAAGTTACTGAGCCAGGAGG	0.453000														39			28		0	0	0.001786	0	0
FAT4	79633	broad.mit.edu	37	4	126370371	126370371	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126370371G>A	uc003ifj.4	+	8	8200	c.8200G>A	c.(8200-8202)Gaa>Aaa	p.E2734K	FAT4_uc011cgp.2_Missense_Mutation_p.E1032K|FAT4_uc003ifi.1_Missense_Mutation_p.E212K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2734	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGGACAGGGAAAAAGTATC	0.348000														20			16		0	0	0.006122	0	0
HAGH	3029	broad.mit.edu	37	16	1872925	1872925	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1872925G>A	uc002cna.3	-	1	597	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	HAGH_uc002cmz.3_Silent_p.L16L|HAGH_uc010uvp.2_Silent_p.L64L|HAGH_uc010bry.1_Silent_p.L64L	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.L16V(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TCAATGACCAGGTACATGTAG	0.592000														53			27		0	0	0.005443	0	0
APOH	350	broad.mit.edu	37	17	64208268	64208268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:64208268C>T	uc002jfn.4	-	7	1080	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	341	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GGCTTTACATCGGATGCATCA	0.343000														21			8		0	0	0.004482	0	0
CNTN6	27255	broad.mit.edu	37	3	1444146	1444146	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:1444146G>A	uc003boz.3	+	21	3229	c.2962G>A	c.(2962-2964)Gaa>Aaa	p.E988K	CNTN6_uc011asj.2_Missense_Mutation_p.E916K|CNTN6_uc003bpa.3_Missense_Mutation_p.E988K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	988	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.E987D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGCAGTGAGGAAATTAGGAT	0.398000														10			12		0	0	0.000978	0	0
MUM1	84939	broad.mit.edu	37	19	1360408	1360408	+	Missense_Mutation	SNP	C	T	T	rs117812723	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1360408C>T	uc002lrz.2	+	4	601	c.491C>T	c.(490-492)tCg>tTg	p.S164L	MUM1_uc010dsi.2_Missense_Mutation_p.S95L|MUM1_uc002lsb.2_Missense_Mutation_p.S95L|MUM1_uc010xgm.1_Missense_Mutation_p.S163L|MUM1_uc002lsc.1_Missense_Mutation_p.S95L	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	163					DNA repair|chromatin organization	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCAAGTTCGTTCACTTGT	0.557000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			12		0	0	0.001368	0	0
CRLF2	64109	broad.mit.edu	37	X	1321372	1321372	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:1321372G>A	uc004cpk.2	-	3	385	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CRLF2_uc022brt.1_Missense_Mutation_p.S128L|CRLF2_uc004cpl.2_Missense_Mutation_p.S16L|CRLF2_uc022brs.1_Missense_Mutation_p.S128L	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	128	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity	p.S128L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGATGCCACGAAAATCTCAC	0.547000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									40			38		0	0	0.002522	0	0
ITGAV	3685	broad.mit.edu	37	2	187531934	187531934	+	Silent	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:187531934T>A	uc002upq.3	+	22	2580	c.2304T>A	c.(2302-2304)gtT>gtA	p.V768V	ITGAV_uc010frs.3_Silent_p.V732V|ITGAV_uc010zfv.2_Silent_p.V722V	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	768					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATCTTGCTGTTTTAGCTGCAG	0.333000														24			18		0	0	0.007413	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159566	92159566	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:92159566C>T	uc001xzs.1	-	8	875	c.735G>A	c.(733-735)gtG>gtA	p.V245V		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	245					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAACCATATCCACCAATGAAA	0.343000														29			26		0	0	0.006320	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418940	48418940	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48418940C>T	uc011mmb.1	+	5	1742	c.1656C>T	c.(1654-1656)gaC>gaT	p.D552D	TBC1D25_uc004dka.1_Silent_p.D548D|TBC1D25_uc011mly.1_Silent_p.D490D|TBC1D25_uc004dkb.1_Silent_p.D294D|TBC1D25_uc011mlz.1_Silent_p.D294D|TBC1D25_uc011mma.1_Silent_p.D294D|TBC1D25_uc004dkc.1_Silent_p.D294D|TBC1D25_uc011mmd.1_Silent_p.D294D|TBC1D25_uc011mmc.1_Silent_p.D294D	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	548						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTCCCCAGACCCACTGCTCT	0.582000														44			14		0	0	0.002450	0	0
ERBB4	2066	broad.mit.edu	37	2	212488718	212488718	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:212488718G>A	uc002veg.1	-	17	2229	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	ERBB4_uc002veh.1_Missense_Mutation_p.R711C|ERBB4_uc010zji.1_Missense_Mutation_p.R701C|ERBB4_uc010zjj.1_Missense_Mutation_p.R701C|ERBB4_uc010fut.1_Missense_Mutation_p.R711C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	711					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	p.R711C(2)		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)		TTCAAAATACGAAGTTGAGCT	0.423000										TSP Lung(8;0.080)				23			13		0	0	0.002450	0	0
HLA-G	3135	broad.mit.edu	37	6	29797630	29797630	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29797630C>T	uc003nnw.2	+	5	1111	c.933C>T	c.(931-933)atC>atT	p.I311I	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.I283I|HLA-G_uc003raj.3_Silent_p.I316I|HLA-G_uc003nnz.3_Silent_p.I219I|HLA-G_uc010jrn.2_Silent_p.I127I|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_Non-coding_Transcript	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	311					antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCATGGGTATCGTTGCTGGCC	0.582000														52			20		0	0	0.007413	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517984	138517984	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:138517984C>A	uc010nbd.1	-	3	442	c.188G>T	c.(187-189)aGg>aTg	p.R63M		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	63					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CAGGACCCGCCTGTCGAAAGT	0.498000														7			41		4.01765e-15	4.80388e-15	0.002222	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8215685	8215685	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:8215685C>T	uc002glc.3	+	1	483	c.328C>T	c.(328-330)Cca>Tca	p.P110S	ARHGEF15_uc002glb.2_Missense_Mutation_p.P110S|ARHGEF15_uc002gld.3_Missense_Mutation_p.P110S|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P110S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	110	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P110T(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672000														48			36		0	0	0.005524	0	0
BTBD11	121551	broad.mit.edu	37	12	108013806	108013806	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:108013806C>T	uc001tmk.1	+	10	3017	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	BTBD11_uc009zut.1_Silent_p.I713I|BTBD11_uc001tmj.3_Silent_p.I832I|BTBD11_uc001tml.1_Silent_p.I369I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	832						integral to membrane	DNA binding	p.R831Q(2)		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						CTTTGCGGATCGCCTTCCAGC	0.607000														19			4		0	0	0.000602	0	0
HIRA	7290	broad.mit.edu	37	22	19396072	19396072	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:19396072G>A	uc002zpf.1	-	2	365	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.L49F|HIRA_uc010gro.2_Missense_Mutation_p.L5F|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	49					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCCTCCTGGAGGACTGGAGAC	0.453000														40			25		0	0	0.006320	0	0
RGPD3	653489	broad.mit.edu	37	2	107073457	107073457	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:107073457G>A	uc010ywi.1	-	3	432	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	125					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GACTTCCTGGGAAAAGTTTTG	0.328000														69			57		0	0	0.003610	0	0
ITSN2	50618	broad.mit.edu	37	2	24533432	24533432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:24533432G>A	uc002rfe.2	-	5	740	c.482C>T	c.(481-483)tCt>tTt	p.S161F	ITSN2_uc002rff.2_Missense_Mutation_p.S161F|ITSN2_uc002rfg.3_Missense_Mutation_p.S161F|ITSN2_uc010eyd.2_Missense_Mutation_p.S161F	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	161					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCTAACAGAAGGCACTAG	0.463000														24			13		0	0	0.002450	0	0
WRNIP1	56897	broad.mit.edu	37	6	2785494	2785495	+	Nonsense_Mutation	DNP	TC	AG	AG			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:2785494_2785495TC>AG	uc003mtz.3	+	6	2167_2168	c.1976_1977TC>AG	c.(1975-1977)ttc>tAG	p.F659*	WRNIP1_uc003mua.3_Nonsense_Mutation_p.F634*	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	659					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGGTAGATTTCTTCAAGCAGA	0.500000														43			28		0	0	0.004672	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514388	166514388	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166514388G>A	uc002udf.3	+	4	642	c.266G>A	c.(265-267)gGa>gAa	p.G89E	CSRNP3_uc002udg.3_Missense_Mutation_p.G89E	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	89					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGTCAAGGGGGAAGCACCCTG	0.547000														19			12		0	0	0.000978	0	0
ZNF498	221785	broad.mit.edu	37	7	99221766	99221766	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99221766G>A	uc003url.1	+	6	1095	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZNF498_uc003urm.1_Silent_p.G92G|ZNF498_uc010lge.1_Silent_p.G92G|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Silent_p.G40G	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	256					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACTGCTTTGGGGAGTATGTGG	0.572000														76			35		0	0	0.006999	0	0
PDZD2	23037	broad.mit.edu	37	5	32074232	32074232	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:32074232C>T	uc003jhl.3	+	17	3408	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	PDZD2_uc003jhm.3_Missense_Mutation_p.S1007F|PDZD2_uc011cnx.1_Missense_Mutation_p.S833F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1007					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCTCAATTTCCTCTTCCAAG	0.577000														24			10		0	0	0.006214	0	0
SHISA2	387914	broad.mit.edu	37	13	26620776	26620776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:26620776C>T	uc001uqm.1	-	1	848	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	255					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGCACAGAGTCGTGCTGCACC	0.567000														20			20		0	0	0.008871	0	0
LOC441455	441455	broad.mit.edu	37	9	99489264	99489264	+	RNA	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:99489264C>T	uc011luo.1	+	0		c.1162C>T								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		CCCTGATGGCCTTACAGAGAA	0.478000														4			15		0	0	0.003163	0	0
SLC12A2	6558	broad.mit.edu	37	5	127474309	127474309	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:127474309T>G	uc003kus.3	+	7	1593	c.1429T>G	c.(1429-1431)Ttt>Gtt	p.F477V	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.F477V	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	477					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAATGAGAACTTTGGGCCCGA	0.363000														35			13		0	0	0.002450	0	0
COPS7B	64708	broad.mit.edu	37	2	232660846	232660846	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:232660846C>T	uc002vsh.1	+	4	461	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	COPS7B_uc010fxy.1_Silent_p.L86L|COPS7B_uc002vsg.1_Silent_p.L120L|COPS7B_uc002vsi.1_Silent_p.L13L|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.L13L			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	120	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCTGAAAGACCTGGAGATGCG	0.478000														26			17		0	0	0.004990	0	0
CD163	9332	broad.mit.edu	37	12	7637846	7637846	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:7637846G>A	uc001qsz.3	-	10	2753	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	CD163_uc001qta.3_Silent_p.I875I|CD163_uc009zfw.2_Silent_p.I908I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	875	SRCR 8.				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						ATGCAGGGTTGATTTTCCCTT	0.522000														44			14		0	0	0.001855	0	0
PLCH1	23007	broad.mit.edu	37	3	155203356	155203356	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:155203356C>T	uc021xge.1	-	21	3064	c.2787G>A	c.(2785-2787)agG>agA	p.R929R	PLCH1_uc021xgd.1_Silent_p.R929R|PLCH1_uc021xgf.1_Silent_p.R891R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	929					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCTTTTTCCTGCCTTTGG	0.498000														39			29		0	0	0.008361	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496064	6496064	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:6496064G>A	uc002mfg.1	-	3	553	c.446C>T	c.(445-447)aCg>aTg	p.T149M	TUBB4A_uc002mff.1_Missense_Mutation_p.T77M	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	149					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T149M(1)									GATGAGCAGCGTGCCCATTCC	0.642000														28			23		0	0	0.002780	0	0
SPRY3	10251	broad.mit.edu	37	X	155004072	155004072	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:155004072G>A	uc022cio.1	+	0	539	c.539G>A	c.(538-540)aGc>aAc	p.S180N	SPRY3_uc004fnq.1_Missense_Mutation_p.S180N	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	180	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTGCTGAGAGCCTCCTCGAT	0.582000														78			20		0	0	0.001523	0	0
RYR1	6261	broad.mit.edu	37	19	38996005	38996005	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38996005C>T	uc002oit.3	+	52	8497	c.8367C>T	c.(8365-8367)ccC>ccT	p.P2789P	RYR1_uc002oiu.3_Silent_p.P2789P|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2789	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACCCACCCCATGCTGAGGC	0.557000														10			6		0	0	0.001168	0	0
COL6A6	131873	broad.mit.edu	37	3	130285597	130285597	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:130285597G>A	uc010htl.3	+	3	1365	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	445	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATGGCTCAGGGAGCACCCAG	0.488000														14			19		0	0	0.007413	0	0
ROBO4	54538	broad.mit.edu	37	11	124757634	124757634	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:124757634C>T	uc001qbg.3	-	12	2191	c.2051G>A	c.(2050-2052)aGc>aAc	p.S684N	ROBO4_uc010sas.2_Missense_Mutation_p.S539N|ROBO4_uc001qbh.2_Missense_Mutation_p.S574N|ROBO4_uc001qbi.3_Missense_Mutation_p.S242N|ROBO4_uc010sat.1_Missense_Mutation_p.S242N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	684					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTCACCTGGGCTTTGGGAAAG	0.607000														8			17		0	0	0.006122	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798450	55798450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:55798450G>A	uc010riw.2	+	0	556	c.556G>A	c.(556-558)Gct>Act	p.A186T		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A186V(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACCTCTTCTGGCTTTATCATG	0.413000														36			75		0	0	0.003610	0	0
ENAH	55740	broad.mit.edu	37	1	225700594	225700594	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:225700594A>G	uc001hpc.1	-	7	1796	c.1343T>C	c.(1342-1344)aTg>aCg	p.M448T	ENAH_uc021pju.1_Missense_Mutation_p.M398T|ENAH_uc001hpd.1_Missense_Mutation_p.M448T|ENAH_uc001hpb.1_Missense_Mutation_p.M67T	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	448	EVH2 block B.|EVH2.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CAGGGCACTCATTTCTTCCAT	0.438000														61			66		0	0	0.003610	0	0
FAM83C	128876	broad.mit.edu	37	20	33875396	33875396	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:33875396G>A	uc021wck.1	-	3	1304	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	396								p.R396H(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACAGTTGGCGATGTAGGGAG	0.642000														33			6		0	0	0.001168	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103156983	103156983	+	Splice_Site	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:103156983G>T	uc001phn.1	+	75	11056	c.10912_splice	c.e75-1	p.I3638_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.I3631_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3631					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTATTTTTTAGATTGCTCTCC	0.328000														37			58		3.94896e-32	4.74217e-32	0.003610	1	0
PRKCE	5581	broad.mit.edu	37	2	46203596	46203596	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:46203596C>T	uc002rut.3	+	2	638	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	147					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGCGTGTGTTCAGGGAACGCA	0.587000														38			28		0	0	0.007291	0	0
ADCY10	55811	broad.mit.edu	37	1	167779026	167779026	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:167779026C>T	uc001ger.3	-	32	5020	c.4722G>A	c.(4720-4722)acG>acA	p.T1574T	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.T1421T|ADCY10_uc009wvk.3_Silent_p.T1482T	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1574					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.T1574T(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GACTCAAGATCGTCTGAAGCC	0.393000														47			15		0	0	0.004990	0	0
TRPM2	7226	broad.mit.edu	37	21	45786768	45786768	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:45786768G>A	uc010gpt.1	+	3	655	c.555G>A	c.(553-555)cgG>cgA	p.R185R	TRPM2_uc002zet.1_Silent_p.R185R|TRPM2_uc002zeu.1_Silent_p.R185R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R185R|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	185						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAAGCCGCGGCTGAAGAGCA	0.632000														16			6		0	0	0.001984	0	0
CADM3	57863	broad.mit.edu	37	1	159162383	159162383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159162383G>A	uc001ftl.2	+	2	424	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CADM3_uc009wsx.1_Missense_Mutation_p.R116Q|CADM3_uc009wsy.1_Missense_Mutation_p.R82Q|CADM3_uc001ftk.2_Missense_Mutation_p.R116Q	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	82	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGAGATAATCGAATTCAGCTG	0.512000														62			16		0	0	0.006122	0	0
AKAP1	8165	broad.mit.edu	37	17	55182852	55182852	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:55182852C>T	uc010wnl.2	+	2	309	c.27C>T	c.(25-27)ttC>ttT	p.F9F	AKAP1_uc002iux.3_Silent_p.F9F|AKAP1_uc021uak.1_Silent_p.F9F|AKAP1_uc010dcm.3_Silent_p.F9F|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	9					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTTCGCTCTTCCCCTTGGCAT	0.572000														25			12		0	0	0.001368	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123704	11123704	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:11123704A>G	uc010dxp.3	+	16	2714	c.2354A>G	c.(2353-2355)aAg>aGg	p.K785R	SMARCA4_uc010dxo.3_Missense_Mutation_p.K785R|SMARCA4_uc002mqf.4_Missense_Mutation_p.K785R|SMARCA4_uc002mqg.1_Missense_Mutation_p.K785R|SMARCA4_uc010dxq.3_Missense_Mutation_p.K785R|SMARCA4_uc010dxr.3_Missense_Mutation_p.K785R|SMARCA4_uc002mqj.4_Missense_Mutation_p.K785R|SMARCA4_uc010dxs.3_Missense_Mutation_p.K785R|SMARCA4_uc010dxt.1_Missense_Mutation_p.K5R	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	785	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCTGGGGAAGACCATCCAG	0.577000			"""F, N, Mis"""		NSCLC									23			11		0	0	0.008291	0	0
FLT1	2321	broad.mit.edu	37	13	28963935	28963935	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:28963935C>T	uc001usb.3	-	12	2252	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K	FLT1_uc010aar.1_Missense_Mutation_p.R656K|FLT1_uc001usc.3_Missense_Mutation_p.R656K|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.R139K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	656					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTCACCTCTGATTGTAAT	0.403000														56			5		0	0	0.000602	0	0
CD200	4345	broad.mit.edu	37	3	112066667	112066667	+	Silent	SNP	C	T	T	rs149174117		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:112066667C>T	uc003dyw.3	+	4	903	c.759C>T	c.(757-759)acC>acT	p.T253T	CD200_uc010hqd.1_Silent_p.T112T|CD200_uc003dyx.3_Silent_p.T228T|CD200_uc003dyz.3_Silent_p.T154T|CD200_uc003dyy.3_Silent_p.T112T	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	228					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TTAAGCAAACCGTCAACAAAG	0.512000														30			26		0	0	0.005443	0	0
DNAH11	8701	broad.mit.edu	37	7	21906166	21906166	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:21906166G>A	uc003svc.3	+	71	11627	c.11596G>A	c.(11596-11598)Gaa>Aaa	p.E3866K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3866					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGTGGGTAGAATCCGAGTG	0.428000									Kartagener syndrome					50			24		0	0	0.003330	0	0
OBSCN	84033	broad.mit.edu	37	1	228556533	228556533	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:228556533C>T	uc009xez.1	+	88	19922	c.19878C>T	c.(19876-19878)tcC>tcT	p.S6626S	OBSCN_uc001hsr.1_Silent_p.S1255S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6626	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTACGGCTCCCCTGAGTTCG	0.582000														86			37		0	0	0.004289	0	0
BCAS1	8537	broad.mit.edu	37	20	52645262	52645262	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:52645262T>A	uc002xws.2	-	3	730	c.392A>T	c.(391-393)aAc>aTc	p.N131I	BCAS1_uc010zzb.1_Missense_Mutation_p.N34I|BCAS1_uc010gim.2_Missense_Mutation_p.N34I|BCAS1_uc002xwt.2_Missense_Mutation_p.N131I|BCAS1_uc010gil.1_Missense_Mutation_p.N131I|BCAS1_uc010zzc.2_Missense_Mutation_p.N34I	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	131						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGGTCTTTGTTCGCTGGAGC	0.582000														45			7		0	0	0.003080	0	0
MID1	4281	broad.mit.edu	37	X	10423070	10423070	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:10423070C>T	uc004cte.4	-	8	1685	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	MID1_uc004ctd.4_Missense_Mutation_p.V210M|MID1_uc004ctg.4_Missense_Mutation_p.V499M|MID1_uc004cth.4_Missense_Mutation_p.V461M|MID1_uc004ctk.4_Missense_Mutation_p.V499M|MID1_uc004ctj.4_Missense_Mutation_p.V499M|MID1_uc004cti.4_Missense_Mutation_p.V499M|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004csz.4_Missense_Mutation_p.V171M|MID1_uc004cta.4_Missense_Mutation_p.V255M|MID1_uc004ctb.4_Missense_Mutation_p.V159M|MID1_uc004ctc.4_Missense_Mutation_p.V266M	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	499	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATGGGACACCTTCAGTTTT	0.433000														34			14		0	0	0.003163	0	0
COL4A4	1286	broad.mit.edu	37	2	227924164	227924164	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:227924164C>T	uc021vxr.1	-	26	2441	c.2340G>A	c.(2338-2340)ggG>ggA	p.G780G	COL4A4_uc021vxs.1_Silent_p.G780G	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	780	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTCCTTTTATCCCTGGCACTC	0.567000														73			44		0	0	0.003610	0	0
PTTG2	10744	broad.mit.edu	37	4	37962247	37962247	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:37962247G>A	uc011bye.2	+	0	192	c.192G>A	c.(190-192)ttG>ttA	p.L64L	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	64					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						GAAAGGCTTTGGGCACTGTCA	0.423000														25			14		0	0	0.001855	0	0
RETNLB	84666	broad.mit.edu	37	3	108475946	108475946	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:108475946G>A	uc003dxh.2	-	0	185	c.87C>T	c.(85-87)tcC>tcT	p.S29S		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	29					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TATCCATAACGGAGTCTAAGG	0.512000														8			13		0	0	0.001368	0	0
PHIP	55023	broad.mit.edu	37	6	79650681	79650682	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:79650681_79650682GG>AA	uc011dyp.2	-	39	5417_5418	c.5191_5192CC>TT	c.(5191-5193)cct>TTt	p.P1731F	PHIP_uc003piq.3_Missense_Mutation_p.P756F|PHIP_uc003pir.3_Missense_Mutation_p.P1732F|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.4_Missense_Mutation_p.P618F	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1732					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GACACTTGCAGGGACTAGGAGA	0.386000														43			27		0	0	0.004672	0	0
MLL	4297	broad.mit.edu	37	11	118373344	118373344	+	Missense_Mutation	SNP	T	C	C	rs139450035		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:118373344T>C	uc001pta.3	+	26	6751	c.6728T>C	c.(6727-6729)gTt>gCt	p.V2243A	MLL_uc001ptb.3_Missense_Mutation_p.V2246A	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2243					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GCCAAAGTAGTTGATCATGTC	0.423000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									12			20		0	0	0.008871	0	0
MYH6	4624	broad.mit.edu	37	14	23865587	23865587	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:23865587G>A	uc001wjv.3	-	19	2406	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	779	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCTCATCCCGCATCTCCTCC	0.612000														19			10		0	0	0.006214	0	0
ATP2B2	491	broad.mit.edu	37	3	10384469	10384469	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:10384469G>A	uc003bvt.3	-	18	3323	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	ATP2B2_uc003bvv.3_Nonsense_Mutation_p.Q917*|ATP2B2_uc003bvw.3_Nonsense_Mutation_p.Q917*|ATP2B2_uc010hdo.3_Nonsense_Mutation_p.Q667*	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	962					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGGCAAGCTGGTAGACAGCA	0.627000														21			7		0	0	0.001984	0	0
FHOD1	29109	broad.mit.edu	37	16	67264382	67264382	+	Silent	SNP	G	A	A	rs150328636		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67264382G>A	uc002esl.3	-	18	2998	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	FHOD1_uc010ced.3_Silent_p.G769G	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	962	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGGGGTGTAGCCCAGGTAGA	0.602000														61			31		0	0	0.002836	0	0
MYO1G	64005	broad.mit.edu	37	7	45015128	45015128	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:45015128C>T	uc003tmh.2	-	3	663	c.519G>A	c.(517-519)aaG>aaA	p.K173K	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Silent_p.K58K|MYO1G_uc003tmi.1_Silent_p.K85K|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	173	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCGGGTCCCCCTTGAAGTCAA	0.597000														12			6		0	0	0.003080	0	0
RASGRF1	5923	broad.mit.edu	37	15	79310166	79310166	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:79310166G>A	uc002beq.3	-	11	2064	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	RASGRF1_uc002bep.3_Silent_p.I563I|RASGRF1_uc010blm.1_Silent_p.I485I|RASGRF1_uc002ber.4_Silent_p.I563I|RASGRF1_uc010unh.1_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	563	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGCCACTAGGATGACTGTAA	0.527000														34			29		0	0	0.002096	0	0
ANK3	288	broad.mit.edu	37	10	61819111	61819111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61819111G>A	uc001jky.3	-	40	13011	c.12673C>T	c.(12673-12675)Cga>Tga	p.R4225*	ANK3_uc001jkw.3_Nonsense_Mutation_p.R849*|ANK3_uc009xpa.3_Nonsense_Mutation_p.R849*|ANK3_uc001jkx.3_Nonsense_Mutation_p.R893*|ANK3_uc010qih.2_Nonsense_Mutation_p.R1716*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R1709*|ANK3_uc001jkv.3_Nonsense_Mutation_p.R248*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4225					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATCCAGTCGATCTAGTAAC	0.398000														76			18		0	0	0.007413	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215473	21215473	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:21215473G>A	uc002gys.3	+	9	1059	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	MAP2K3_uc002gyt.3_Missense_Mutation_p.R236Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R236Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R236Q	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	265	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCCATCCTGCGGTTCCCTTAC	0.672000														30			7		0	0	0.003080	0	0
LRRC15	131578	broad.mit.edu	37	3	194081019	194081019	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:194081019G>A	uc003ftt.3	-	2	897	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	LRRC15_uc003ftu.3_Silent_p.L252L|LRRC15_uc021xiy.1_Silent_p.L252L	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	252						integral to membrane		p.S258S(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGTTGGACAGGTAGAGTCTC	0.552000														21			31		0	0	0.002096	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761755	13761755	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13761755G>A	uc001rbt.2	-	8	1971	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	598					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAAAGAGGGTCCACCAGGC	0.498000														18			12		0	0	0.000978	0	0
CHRD	8646	broad.mit.edu	37	3	184105719	184105719	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:184105719G>A	uc003fov.3	+	20	2698	c.2452_splice	c.e20-1	p.G818_splice	CHRD_uc003fow.3_Splice_Site_p.G448_splice|CHRD_uc003fox.3_Splice_Site_p.G818_splice|CHRD_uc003foy.3_Splice_Site_p.G448_splice|CHRD_uc010hyc.3_Splice_Site_p.G408_splice|CHRD_uc011brr.2_Splice_Site_p.G360_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	818	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCTACAGGGGGGCACTGG	0.607000														22			5		0	0	0.001168	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089567	43089568	+	Missense_Mutation	DNP	AA	GT	GT			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:43089567_43089568AA>GT	uc001jaf.1	-	4	945_946	c.830_831TT>AC	c.(829-831)ttt>tAC	p.F277Y	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F165Y|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CACAATCACTAAATTCATAGTG	0.381000														32			11		0	0	0.004672	0	0
OR52R1	119695	broad.mit.edu	37	11	4825176	4825176	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4825176G>A	uc021qcs.1	-	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGTTTGATCACGACCG	0.587000														16			22		0	0	0.002299	0	0
DNAH8	1769	broad.mit.edu	37	6	38893862	38893862	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:38893862G>A	uc021yzh.1	+	73	11103	c.10994G>A	c.(10993-10995)gGa>gAa	p.G3665E	DNAH8_uc003ooe.2_Missense_Mutation_p.G3448E|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATTACCAGGAGATGATCTC	0.418000														68			74		0	0	0.003610	0	0
CACNG3	10368	broad.mit.edu	37	16	24372868	24372868	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:24372868C>T	uc002dmf.3	+	3	1834	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	211					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGAGCCAAATCCCACTCGGAG	0.498000														32			28		0	0	0.001786	0	0
ABCA3	21	broad.mit.edu	37	16	2342196	2342196	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:2342196G>A	uc002cpy.1	-	18	3170	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	ABCA3_uc010bsk.1_Silent_p.L762L|ABCA3_uc010bsl.1_Silent_p.L820L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	820					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAATGCCCAGCTCTTTCTGC	0.483000														28			20		0	0	0.002780	0	0
ZNF578	147660	broad.mit.edu	37	19	53014718	53014718	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:53014718C>T	uc002pzp.4	+	5	1328	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAGATGCCATCGTAGACTTCA	0.393000														36			17		0	0	0.006122	0	0
RASEF	158158	broad.mit.edu	37	9	85677354	85677354	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:85677354G>A	uc004amo.1	-	0	690	c.429C>T	c.(427-429)ccC>ccT	p.P143P	RASEF_uc004amp.1_Silent_p.P143P	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	143					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTCGCACCTGGGAATGAACT	0.672000														14			12		0	0	0.001855	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905121	32905121	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32905121C>T	uc003ocl.2	-	2	713	c.450G>A	c.(448-450)agG>agA	p.R150R	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_Silent_p.R19R|HLA-DMB_uc010jue.2_Silent_p.R19R|HLA-DMB_uc010juf.2_Silent_p.R19R|HLA-DMB_uc003ocj.2_3'UTR|HLA-DMB_uc011dql.2_Silent_p.R150R	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	150	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCGTTCTTCCTCCACGTGA	0.537000														70			28		0	0	0.008361	0	0
SI	6476	broad.mit.edu	37	3	164776753	164776753	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:164776753C>T	uc003fei.3	-	11	1459	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	466	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTTTACCTCTCCAATAATT	0.378000										HNSCC(35;0.089)				8			9		0	0	0.006214	0	0
PIM3	415116	broad.mit.edu	37	22	50355388	50355388	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50355388C>T	uc003bjb.3	+	3	998	c.545C>T	c.(544-546)tCc>tTc	p.S182F	PIM3_uc011arj.2_5'Flank	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	Homo sapiens pim-3 oncogene (PIM3), mRNA.	182	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GACCTGCGCTCCGGAGAGCTC	0.652000														21			11		0	0	0.001368	0	0
USH2A	7399	broad.mit.edu	37	1	216062314	216062315	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216062314_216062315GG>AA	uc001hku.1	-	40	8063_8064	c.7676_7677CC>TT	c.(7675-7677)tcc>tTT	p.S2559F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2559	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAACCCCATTGGATTTTCTAGG	0.401000										HNSCC(13;0.011)				55			11		0	0	0.004672	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662687	662687	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:662687C>T	uc001qii.1	+	13	1598	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	B4GALNT3_uc001qij.1_Missense_Mutation_p.P436L|B4GALNT3_uc001qik.1_Missense_Mutation_p.P82L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	533						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GACAAGTGGCCTCCTGGGCAC	0.622000														14			9		0	0	0.004482	0	0
CALR3	125972	broad.mit.edu	37	19	16591475	16591475	+	Missense_Mutation	SNP	C	T	T	rs143334090		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:16591475C>T	uc002ned.2	-	7	1024	c.961G>A	c.(961-963)Gat>Aat	p.D321N	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	321	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TACTCTTCATCATCTGTGATC	0.358000														20			12		0	0	0.001855	0	0
HDAC5	10014	broad.mit.edu	37	17	42155881	42155881	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:42155881C>T	uc002iff.1	-	25	3651	c.3319G>A	c.(3319-3321)Gaa>Aaa	p.E1107K	HDAC5_uc002ifd.1_Missense_Mutation_p.E1106K|HDAC5_uc002ife.1_Missense_Mutation_p.E1106K|HDAC5_uc010czp.1_Missense_Mutation_p.E1021K	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	1106					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGGCTGTGTTCCCGGGCTGCC	0.697000														32			20		0	0	0.001882	0	0
GFAP	2670	broad.mit.edu	37	17	42988759	42988759	+	Nonsense_Mutation	SNP	A	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:42988759A>C	uc021tyh.1	-	5	1038	c.972T>G	c.(970-972)taT>taG	p.Y324*	GFAP_uc002ihq.3_Nonsense_Mutation_p.Y324*|GFAP_uc002ihr.3_Nonsense_Mutation_p.Y324*|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	324	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCGCCTCCTGATAACTGGCCG	0.682000														24			14		0	0	0.004990	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376125	8376125	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8376125G>A	uc001qui.2	-	5	911	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	FAM90A1_uc001quh.2_Missense_Mutation_p.L118F	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	118							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AATATGTGGAGGAGAGCCTTC	0.567000														9			13		0	0	0.001855	0	0
PARM1	25849	broad.mit.edu	37	4	75937638	75937638	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:75937638G>A	uc003hih.2	+	1	300	c.47G>A	c.(46-48)tGg>tAg	p.W16*		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	16					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCACAGGATGGAGGGTACAG	0.438000														18			17		0	0	0.006122	0	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:105463544C>T	uc003yly.4	-	1	482	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522000														13			11		0	0	0.008291	0	0
NR3C1	2908	broad.mit.edu	37	5	142689733	142689733	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:142689733T>G	uc003lnd.3	-	3	2391	c.1397A>C	c.(1396-1398)gAt>gCt	p.D466A	NR3C1_uc003lmy.3_Missense_Mutation_p.D467A|NR3C1_uc003lmz.3_Missense_Mutation_p.D131A|NR3C1_uc003lna.3_Missense_Mutation_p.D466A|NR3C1_uc003lnb.3_Missense_Mutation_p.D466A|NR3C1_uc011dbk.2_Missense_Mutation_p.D69A|NR3C1_uc003lnf.3_Missense_Mutation_p.D467A|NR3C1_uc003lne.3_Missense_Mutation_p.D466A|NR3C1_uc003lnc.3_Missense_Mutation_p.D466A|NR3C1_uc021yfa.1_Missense_Mutation_p.D466A|NR3C1_uc021yfb.1_Missense_Mutation_p.D466A	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	466					chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TCGAATTTTATCGATGATGCA	0.358000														19			17		0	0	0.004990	0	0
ERBB4	2066	broad.mit.edu	37	2	212426678	212426678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:212426678C>T	uc002veg.1	-	19	2535	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	ERBB4_uc002veh.1_Missense_Mutation_p.D813N|ERBB4_uc010zji.1_Missense_Mutation_p.D803N|ERBB4_uc010zjj.1_Missense_Mutation_p.D803N|ERBB4_uc010fut.1_Missense_Mutation_p.D813N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	813	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCAATGTTATCCTTGTGCTCG	0.458000										TSP Lung(8;0.080)				54			43		0	0	0.003214	0	0
DOCK8	81704	broad.mit.edu	37	9	340242	340242	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:340242C>T	uc003zgf.2	+	13	1712	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	DOCK8_uc011lls.1_Missense_Mutation_p.P534S|DOCK8_uc022bcu.1_Missense_Mutation_p.P466S|DOCK8_uc010mgv.3_Missense_Mutation_p.P466S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.P466S|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	534	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAACCCTTTCCTGAAAACCG	0.468000														21			29		0	0	0.007291	0	0
OR4E2	26686	broad.mit.edu	37	14	22133644	22133644	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22133644C>T	uc010tmd.2	+	0	348	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTGCTGATCATTGTGGCGT	0.453000														66			23		0	0	0.002780	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643591	37643591	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37643591G>A	uc002ofo.1	-	4	1441	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.H349Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.H349Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R403Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCTGTATGAATTCTCTGA	0.408000														28			23		0	0	0.003954	0	0
FAM13C	220965	broad.mit.edu	37	10	61023882	61023882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61023882C>T	uc010qif.1	-	8	1119	c.1053G>A	c.(1051-1053)tgG>tgA	p.W351*	FAM13C_uc010qid.2_Nonsense_Mutation_p.W246*|FAM13C_uc001jkn.3_Nonsense_Mutation_p.W329*|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Nonsense_Mutation_p.W246*|FAM13C_uc001jkp.3_Nonsense_Mutation_p.W246*	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	329										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATCATTCATCCATTTCAGGA	0.453000														26			20		0	0	0.002299	0	0
TLL1	7092	broad.mit.edu	37	4	166999163	166999163	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:166999163C>T	uc003irh.2	+	17	3070	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L	TLL1_uc011cjn.2_Missense_Mutation_p.P831L|TLL1_uc011cjo.2_Missense_Mutation_p.P632L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	808	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)		AGCGCCACTCCTGGCCACCGA	0.473000														11			10		0	0	0.006214	0	0
EPHA6	285220	broad.mit.edu	37	3	96706639	96706639	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:96706639C>T	uc010how.1	+	2	959	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	EPHA6_uc003drp.1_Missense_Mutation_p.R306C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	211						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTTCACTGTTCGTAACTTGGC	0.458000														88			99		0	0	0.003610	0	0
TCEA3	6920	broad.mit.edu	37	1	23735187	23735187	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:23735187G>A	uc021oig.1	-	4	548	c.413C>T	c.(412-414)tCc>tTc	p.S138F	TCEA3_uc021oih.1_Missense_Mutation_p.S117F|TCEA3_uc010ody.1_Missense_Mutation_p.S101F	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	138	Ser-rich.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TGGAGAGGAGGAGGCAGAAGA	0.483000														11			3		0	0	0.000248	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816074	101816074	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:101816074G>A	uc003knn.3	-	1	595	c.423C>T	c.(421-423)acC>acT	p.T141T	SLCO6A1_uc003kno.3_Silent_p.T141T|SLCO6A1_uc003knp.3_Silent_p.T141T|SLCO6A1_uc003knq.3_Silent_p.T141T	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	141						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCTCAATGGTTTTCAGTT	0.338000														37			29		0	0	0.005443	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226091	24226091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:24226091C>T	uc011ajc.1	+	8	1526	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.4_Intron|SLC2A11_uc002zyn.4_Intron|SLC2A11_uc002zyo.4_Intron|SLC2A11_uc002zyp.4_Intron			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	348						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGGGGGGTCCAGGCCGGGCT	0.652000														36			24		0	0	0.002780	0	0
CCDC164	92749	broad.mit.edu	37	2	26677515	26677515	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:26677515G>A	uc002rhg.2	+	15	1994	c.1920_splice	c.e15-1	p.R640_splice		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	640										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						TGGCCTTCAGGGACTCGCGGG	0.592000														37			21		0	0	0.003330	0	0
PDCD10	11235	broad.mit.edu	37	3	167414821	167414821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:167414821G>A	uc003fez.3	-	3	418	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	PDCD10_uc003fex.3_Missense_Mutation_p.R82C|PDCD10_uc003fey.3_Missense_Mutation_p.R82C	NM_145860	NP_665859	Q9BUL8	PDC10_HUMAN	Homo sapiens programmed cell death 10 (PDCD10), transcript variant 3, mRNA.	82					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of MAP kinase activity|positive regulation of cell proliferation	Golgi membrane|cytosol|plasma membrane	protein N-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCTGCCATACGAAGAAGGGAC	0.348000														36			7		0	0	0.001984	0	0
FAM173A	65990	broad.mit.edu	37	16	772508	772508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:772508G>A	uc002cje.3	+	4	776	c.659G>A	c.(658-660)gGa>gAa	p.G220E		NM_023933	NP_076422	Q9BQD7	F173A_HUMAN	Homo sapiens family with sequence similarity 173, member A (FAM173A), mRNA.	220						integral to membrane				pancreas(1)	1						GCTGCCCCCGGACCTAGTTCT	0.587000														10			12		0	0	0.001855	0	0
BMPER	168667	broad.mit.edu	37	7	34118752	34118752	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:34118752C>T	uc011kap.2	+	12	1736	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	454	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCACACTTCCACATCGACC	0.652000														42			18		0	0	0.007413	0	0
EREG	2069	broad.mit.edu	37	4	75250501	75250501	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:75250501G>A	uc003hie.1	+	4	652	c.486G>A	c.(484-486)ggG>ggA	p.G162G		NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	162					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.S161L(1)|p.G162V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TTACCTCAGGGGATCCAGAGT	0.378000														14			7		0	0	0.001984	0	0
NAPA	8775	broad.mit.edu	37	19	47996742	47996742	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:47996742G>A	uc002phd.2	-	4	669	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LOC100505681_uc021uwo.1_Non-coding_Transcript|NAPA_uc002pha.2_Silent_p.F117F|NAPA_uc002phc.2_Silent_p.F4F|NAPA_uc010elf.2_5'UTR	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	117					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCGCAATCGTGAATCGGCCCT	0.602000														71			43		0	0	0.002522	0	0
NES	10763	broad.mit.edu	37	1	156640515	156640515	+	Silent	SNP	G	A	A	rs143618500		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156640515G>A	uc001fpq.3	-	3	3598	c.3465C>T	c.(3463-3465)tcC>tcT	p.S1155S	NES_uc021pbh.1_Silent_p.S73S	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1155	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGCAGCTCGGAGAACTCTG	0.632000														44			20		0	0	0.008871	0	0
RP1	6101	broad.mit.edu	37	8	55542149	55542149	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:55542149G>A	uc003xsd.1	+	3	5855	c.5707G>A	c.(5707-5709)Gaa>Aaa	p.E1903K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1903					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.Q1902*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACACTTCAGGAAGCTGACTC	0.403000														16			24		0	0	0.003330	0	0
SOHLH1	402381	broad.mit.edu	37	9	138591292	138591292	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:138591292G>T	uc010nbe.3	-	0	83	c.22C>A	c.(22-24)Ccc>Acc	p.P8T	KCNT1_uc011mdq.2_5'Flank|KCNT1_uc011mdr.2_5'Flank|KCNT1_uc010nbf.3_5'Flank|SOHLH1_uc004cgl.3_Missense_Mutation_p.P8T	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	8					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TCCGGGTAGGGCTCGGAGCAC	0.697000														15			5		5.9392e-07	7.04509e-07	0.001168	1	0
CEP89	84902	broad.mit.edu	37	19	33406353	33406353	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:33406353C>T	uc002nty.3	-	13	1544	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	CEP89_uc002ntx.3_Silent_p.E238E|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	485						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GTTCCCTGTTCTCCGCCAGCT	0.428000														47			24		0	0	0.002299	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612252	8612252	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8612252C>T	uc001qum.1	+	2	298	c.181C>T	c.(181-183)Cat>Tat	p.H61Y		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	61					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACACTCATATCATTCAAGTCT	0.373000														57			13		0	0	0.004007	0	0
GPM6A	2823	broad.mit.edu	37	4	176622878	176622878	+	Silent	SNP	G	A	A	rs11545191		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:176622878G>A	uc003iuf.3	-	1	882	c.78C>T	c.(76-78)ccC>ccT	p.P26P	GPM6A_uc011ckj.2_Silent_p.P19P|GPM6A_uc003iug.3_Silent_p.P26P|GPM6A_uc003iuh.3_Silent_p.P15P	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	26						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAGAGGCATAGGGAATGCCCC	0.433000														39			18		0	0	0.007413	0	0
KIAA1257	57501	broad.mit.edu	37	3	128712088	128712088	+	Silent	SNP	G	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:128712088G>A	uc003elj.4	-	1	256	c.60C>T	c.(58-60)tcC>tcT	p.S20S	KIAA1257_uc003elg.1_Silent_p.S20S|KIAA1257_uc003eli.4_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	20										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AGCTAGTGATGGAGGAGATGG	0.637000														11			13		0	0	0.001368	0	0
C17orf53	78995	broad.mit.edu	37	17	42226366	42226366	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:42226366C>T	uc002ifi.2	+	2	1432	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	C17orf53_uc010czq.2_Missense_Mutation_p.P399S|C17orf53_uc002ifj.2_Missense_Mutation_p.P399S|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	399										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCGCCGTTTCCCTGGCCCAGC	0.617000														34			9		0	0	0.004482	0	0
LGSN	51557	broad.mit.edu	37	6	63989956	63989956	+	Silent	SNP	C	T	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:63989956C>T	uc003peh.3	-	3	1534	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	500					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATTTATTTCTCTCTGCAGCTA	0.328000														27			16		0	0	0.004007	0	0
PDZD2	23037	broad.mit.edu	37	5	32087839	32087851	+	Frame_Shift_Del	DEL	AGCTTCATCAAGG	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:32087839_32087851delAGCTTCATCAAGG	uc003jhl.3	+	19	4673_4685	c.4285_4297delAGCTTCATCAAGG	c.(4285-4299)agcttcatcaaggagfs	p.S1429fs	PDZD2_uc003jhm.3_Frame_Shift_Del_p.S1429fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1429					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGACATTGACAGCTTCATCAAGGAGCTGGATGC	0.620													---	26	---	---	10	---					
HMGCLL1	54511	broad.mit.edu	37	6	55304296	55304296	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55304296delC	uc003pcn.3	-	8	1106	c.947delG	c.(946-948)ggtfs	p.G316fs	HMGCLL1_uc011dxe.2_Frame_Shift_Del_p.G120fs|HMGCLL1_uc003pco.3_Frame_Shift_Del_p.G286fs|HMGCLL1_uc010jzx.3_Frame_Shift_Del_p.G187fs|HMGCLL1_uc011dxc.2_Frame_Shift_Del_p.G254fs|HMGCLL1_uc011dxd.2_Frame_Shift_Del_p.G183fs	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	316							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCCAGAAGCACCTTTTGCATA	0.408													---	49	---	---	14	---					
PHIP	55023	broad.mit.edu	37	6	79708059	79708060	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:79708059_79708060insA	uc011dyp.2	-	17	2154_2155	c.1928_1929insT	c.(1927-1929)ctgfs	p.L643fs	PHIP_uc003pir.3_Frame_Shift_Ins_p.L643fs	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	643					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATGCTGTCCAGTGGGCTGAT	0.401													---	31	---	---	17	---					
GPR123	84435	broad.mit.edu	37	10	134886614	134886614	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:134886614delG	uc001llw.3	+	2	648	c.648delG	c.(646-648)ctgfs	p.L216fs				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	266						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCTGGAGCTGGGTGCCCAGG	0.711													---	2	---	---	10	---					
PVRL1	5818	broad.mit.edu	37	11	119535677	119535678	+	In_Frame_Ins	INS	-	CCT	CCT	rs137909701	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:119535677_119535678insCCT	uc001pwv.3	-	5	1505_1506	c.1333_1334insAGG	c.(1333-1335)ggc>gAGGgc	p.444_445insE	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(2)|p.G445G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTCCACCGCcctcctcctcc	0.658													---	4	---	---	3	---					
GPR133	283383	broad.mit.edu	37	12	131605434	131605434	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:131605434delA	uc010tbm.2	+	20	2806	c.2247delA	c.(2245-2247)gtafs	p.V749fs	GPR133_uc001uit.4_Frame_Shift_Del_p.V717fs|GPR133_uc009zyo.3_Intron|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	717					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H749Y(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGCCTTTGTAGCCCCTGCCC	0.627													---	69	---	---	16	---					
RDH11	51109	broad.mit.edu	37	14	68159693	68159695	+	In_Frame_Del	DEL	TAT	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:68159693_68159695delTAT	uc001xjv.4	-	1	239_241	c.149_151delATA	c.(148-153)aataca>aca	p.N50del	RDH11_uc001xjx.4_In_Frame_Del_p.N50del|RDH11_uc001xjw.4_In_Frame_Del_p.N50del	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	50					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCGATACCTGTATTAGCTCCTGT	0.488													---	35	---	---	9	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:30531249_30531251delGCT	uc002dyi.4	+	29	3476_3478	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_uc002dyj.4_In_Frame_Del_p.L1022del|ITGAL_uc010vev.2_In_Frame_Del_p.L340del	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1106					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													---	140	---	---	7	---					
ATP2C2	9914	broad.mit.edu	37	16	84486756	84486757	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:84486756_84486757insC	uc010chj.3	+	18	1933_1934	c.1844_1845insC	c.(1843-1845)ggcfs	p.G615fs	ATP2C2_uc002fhx.3_Frame_Shift_Ins_p.G615fs|ATP2C2_uc002fhy.3_Frame_Shift_Ins_p.G632fs|ATP2C2_uc002fhz.3_Frame_Shift_Ins_p.G464fs	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	615					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGAAACATCGGCCTGTGCAACG	0.673													---	6	---	---	4	---					
COX10	1352	broad.mit.edu	37	17	14110234	14110235	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:14110234_14110235delTC	uc002gof.4	+	6	1240_1241	c.1036_1037delTC	c.(1036-1038)tcgfs	p.S346fs	COX10_uc010vvs.2_Frame_Shift_Del_p.S129fs|COX10_uc010vvt.2_Frame_Shift_Del_p.S154fs	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	346					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CTGCATGATGTCGGTCACCCAC	0.658													---	60	---	---	19	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	-	-	rs13056859	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	uc003asz.4	+	2	1161_1181	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding	p.N258_A264delNPSAPAA(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													---	9	---	---	5	---					
