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
MST4	51765	broad.mit.edu	37	X	131203517	131203517	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:131203517G>A	uc004ewk.1	+	6	910	c.609G>A	c.(607-609)tgG>tgA	p.W203*	MST4_uc004ewl.1_Nonsense_Mutation_p.W126*|MST4_uc011mux.1_Nonsense_Mutation_p.W225*|MST4_uc010nrj.1_Nonsense_Mutation_p.W203*|MST4_uc004ewm.1_Intron	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	203	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGACATTTGGTCATTGGGAA	0.303000														19			12		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242418	87242418	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:87242418C>T	uc003ydq.1	-	0	187	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLC7A13_uc003ydr.1_Missense_Mutation_p.G30E	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	30						integral to membrane	amino acid transmembrane transporter activity	p.G30E(2)|p.A29E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACAAAAATTCCTGCACCAAT	0.453000														60			11		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888630	38888630	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:38888630G>A	uc021wvy.1	-	25	5130	c.4931C>T	c.(4930-4932)tCt>tTt	p.S1644F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1644					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAAAGGGCAGAATATTTGAT	0.408000														47			29		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411075	130411075	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:130411075C>T	uc004ewe.4	-	13	2744	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	IGSF1_uc004ewd.3_Missense_Mutation_p.E816K|IGSF1_uc022cdv.1_Missense_Mutation_p.E807K|IGSF1_uc004ewf.2_Missense_Mutation_p.E796K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	816	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATGCTATTTCACTTCCATCT	0.532000														210			96		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994040	140994040	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:140994040T>C	uc004fbt.3	+	3	1174	c.850T>C	c.(850-852)Ttc>Ctc	p.F284L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	284							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)					AGTGAGTCTTTTCCAGAGTTC	0.493000										HNSCC(15;0.026)				80			35		0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110530399	110530399	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:110530399T>G	uc003pua.3	+	4	664	c.603T>G	c.(601-603)gaT>gaG	p.D201E		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	201					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AATATGTGGATGAAAAAGATG	0.323000														42			10		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72234468	72234468	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:72234468G>A	uc002llq.3	+	6	767	c.556_splice	c.e6-1	p.D186_splice	CNDP1_uc002lls.3_5'UTR	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	186					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTTACTTAGGATCTTCCTGT	0.433000														44			6		0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234186290	234186290	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:234186290G>A	uc002vty.3	+	9	1288	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	ATG16L1_uc021vyl.1_Missense_Mutation_p.R228H|ATG16L1_uc002vub.3_Missense_Mutation_p.R202H|ATG16L1_uc002vtz.3_Intron|ATG16L1_uc002vud.4_Missense_Mutation_p.R260H|ATG16L1_uc002vua.3_Missense_Mutation_p.R325H|ATG16L1_uc002vtx.2_Missense_Mutation_p.R181H	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	344					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGCATGGACCGCAGGGTTAAG	0.527000														79			4		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568680	81568680	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:81568680C>T	uc001szl.1	+	7	1303	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	ACSS3_uc001szm.1_Silent_p.D403D|ACSS3_uc001szn.1_Silent_p.D86D	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	404						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTCAACAGGACCCTGGGGCAG	0.488000														35			4		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143560777	143560777	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:143560777C>T	uc003ywm.3	+	6	1838	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	552	TSP type-1 5.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCTCTGGGCCCTTCTTCGGG	0.711000														23			5		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47703278	47703278	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:47703278C>T	uc002eev.4	+	25	2632	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	PHKB_uc002eeu.4_Silent_p.I853I|PHKB_uc002eew.4_Silent_p.I101I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	860					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTGGCTGGATCATCTCCAATA	0.413000														75			11		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152510592	152510592	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:152510592C>T	uc021vrb.1	-	49	6858	c.6829G>A	c.(6829-6831)Gaa>Aaa	p.E2277K	NEB_uc002txu.3_Missense_Mutation_p.E2277K|NEB_uc021vrc.1_Missense_Mutation_p.E2277K|NEB_uc010fnx.3_Missense_Mutation_p.E2277K|NEB_uc021vrd.1_Missense_Mutation_p.E2277K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2277					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)		AAAGCTTCTTCCCATCCAAGT	0.328000														23			5		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8602996	8602996	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:8602996G>A	uc003glm.3	+	2	442	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.E79K|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	90	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAGCTCCTGGAAGGCCAGTG	0.667000														37			9		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799077	38799077	+	Missense_Mutation	SNP	C	T	T	rs150883098		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:38799077C>T	uc003gtl.3	-	3	1650	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	TLR1_uc021xnn.1_Missense_Mutation_p.S459N	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	459					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						TTTAGGAATGCTCTTTATTTT	0.358000														67			21		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821042	64821042	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:64821042C>T	uc001ocn.3	-	6	1015	c.999G>A	c.(997-999)gtG>gtA	p.V333V	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	333	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGCTCACATTCACCTGGCTGG	0.627000														28			19		0	0	1	0	0
MIR526A1	574475	broad.mit.edu	37	19	54209590	54209590	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:54209590G>A	uc021vaa.1	+	1		c.85_splice	c.e1+1		MIR520C_uc021vab.1_5'Flank|MIR518C_uc021vac.1_5'Flank					Homo sapiens microRNA 526a-1 (MIR526A1), microRNA.																		TACTCTTTGAGAAAAACAACA	0.408000														22			25		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274920	41274920	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:41274920T>G	uc010hia.1	+	8	1326	c.1170T>G	c.(1168-1170)gaT>gaG	p.D390E	CTNNB1_uc003ckq.2_Missense_Mutation_p.D390E|CTNNB1_uc003ckp.2_Missense_Mutation_p.D390E|CTNNB1_uc003ckr.2_Missense_Mutation_p.D390E|CTNNB1_uc011azf.1_Missense_Mutation_p.D383E|CTNNB1_uc011azg.1_Missense_Mutation_p.D318E|CTNNB1_uc003cks.3_5'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	390					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ATCTTTCAGATGCTGCAACTA	0.408000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					31			17		0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153617557	153617557	+	Missense_Mutation	SNP	C	T	T	rs147496068		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:153617557C>T	uc001fcn.2	+	5	941	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	CHTOP_uc001fcm.2_Missense_Mutation_p.R187W|CHTOP_uc021ozz.1_3'UTR|CHTOP_uc001fco.2_Missense_Mutation_p.R162W|CHTOP_uc001fcp.3_Non-coding_Transcript	NM_001206612	NP_001193541	Q9Y3Y2	CHTOP_HUMAN	Homo sapiens chromatin target of PRMT1 (CHTOP), transcript variant 2, mRNA.	187	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	RNA binding|protein binding	p.I185fs*20(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						TATGATAGGTCGGGGAAGAGG	0.527000														74			5		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60928261	60928261	+	Silent	SNP	C	T	T	rs147156617		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:60928261C>T	uc001xez.4	-	11	1133	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	C14orf39_uc010apo.3_Silent_p.T52T	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	341										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTGTGATAGTCGTAATATGTG	0.284000														12			6		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91498054	91498054	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:91498054G>A	uc001tbm.3	-	2	1294	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	302					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						CTTGGAGTAGGATAATGGCCC	0.388000														33			5		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377610	50377610	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:50377610C>T	uc004dpe.2	-	3	1489	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.G372E	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	488					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCTGGTGTCCCAAAACTAA	0.512000														84			40		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175308	55175308	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:55175308G>T	uc002qgp.3	+	2	529	c.167G>T	c.(166-168)cGg>cTg	p.R56L	LILRB4_uc002qgo.1_Missense_Mutation_p.R97L|LILRB4_uc002qgq.3_Missense_Mutation_p.R56L|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R97L|LILRB4_uc010eru.3_Missense_Mutation_p.R85L	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.	56	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTGGAGGCTCGGGAGTACCGT	0.607000														116			20		6.33239e-15	6.52355e-15	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95734703	95734703	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:95734703G>A	uc003kls.2	-	10	1707	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	PCSK1_uc010jbi.2_Missense_Mutation_p.P180S|PCSK1_uc021ybq.1_Missense_Mutation_p.P443S	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	490					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)	GCTCTTGTTGGAATTTCAATG	0.358000														13			3		0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915345	45915345	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:45915345C>T	uc002imd.3	-	7	1269	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	SCRN2_uc002imf.3_3'UTR	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	381					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCTGCTGTTTCTGCTGGAGCT	0.667000														49			13		0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018651	5018651	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:5018651G>A	uc003gig.3	-	2	264	c.239C>T	c.(238-240)tCg>tTg	p.S80L		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	80					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACACGGGGGCGAGGCCACAAA	0.552000														102			30		0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351216	56351216	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:56351216C>T	uc001sir.3	-	5	1534	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	PMEL_uc001siq.3_Missense_Mutation_p.V291I|PMEL_uc010spx.2_Missense_Mutation_p.V205I|PMEL_uc001sip.3_Missense_Mutation_p.V291I	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	291	PKD.				melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTGCAGGACCACCTGGGCA	0.602000														88			7		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10546182	10546182	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:10546182G>A	uc002gmq.2	-	14	1630	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	514	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTCCATCCCGAAGTCAATGA	0.507000														80			31		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912076	150912076	+	Silent	SNP	C	T	T	rs141471697		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:150912076C>T	uc004fey.1	+	6	1325	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	367					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)					TTGCCACCATCGTGGGAAATG	0.512000														89			18		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315145	22315145	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:22315145G>A	uc001wbz.1	+	1	308	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		CAGCTTGACAGCCACGTCTCT	0.517000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			25		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104827	168104827	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:168104827C>T	uc002udx.3	+	8	7014	c.6925C>T	c.(6925-6927)Cct>Tct	p.P2309S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2134S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2087S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2134					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						AATTGAATTTCCTCTTCCTCC	0.428000														74			19		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863824	6863824	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:6863824G>A	uc003gjr.4	+	6	2178	c.1715G>A	c.(1714-1716)aGc>aAc	p.S572N	KIAA0232_uc003gjq.4_Missense_Mutation_p.S572N	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	572							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GATTCTACCAGCTCCGTAGGT	0.493000														114			31		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758906	55758906	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:55758906C>T	uc010spk.2	+	0	12	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGAGAAATTCCACAGCAGTAA	0.323000														68			31		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														40			4		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132474604	132474604	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:132474604C>T	uc001ujn.3	+	7	2657	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A	EP400_uc021rgq.1_Silent_p.A834A|EP400_uc001ujm.3_Silent_p.A835A|EP400_uc001ujj.2_Silent_p.A798A|EP400_uc001ujk.3_Silent_p.A871A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	871	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGATAGCCGCCTCCACGGCCC	0.567000														64			14		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567247	80567247	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:80567247G>A	uc022awk.1	+	3	812	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	STMN2_uc003ybj.3_Missense_Mutation_p.E144K|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	144					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAAATTAAGGAAAACCGTGA	0.448000														40			16		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469317	10469317	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:10469317C>T	uc003wtc.3	-	3	2520	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	764					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCGCGTCCCCTGCCCACCC	0.652000														64			10		0	0	1	0	0
CSDA	8531	broad.mit.edu	37	12	10865863	10865863	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:10865863G>A	uc001qyt.3	-	4	763	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	CSDA_uc001qyu.3_Missense_Mutation_p.R174W	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	174					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TAACGGCGCCGATCTGCAGCG	0.517000														94			36		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75445576	75445576	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:75445576G>A	uc004aiz.1	+	22	2778	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.K600K|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	746					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGCGAAACAAGAAAATGGCAG	0.299000														10			6		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909790	7909790	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:7909790C>G	uc002gjt.2	+	3	1210	c.1136C>G	c.(1135-1137)gCc>gGc	p.A379G		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	379					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCAGCTGTGGCCCGCCACATC	0.672000														48			21		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74694866	74694866	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:74694866G>A	uc002fda.3	-	1	580	c.482C>T	c.(481-483)gCa>gTa	p.A161V	RFWD3_uc010cgq.3_Missense_Mutation_p.A161V	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	161					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.R160K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TCCGGCTCTTGCCCTCCGTGA	0.463000														64			36		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51484000	51484000	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:51484000C>T	uc003pah.1	-	66	12380	c.12104G>A	c.(12103-12105)aGt>aAt	p.S4035N		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	4035					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTCAGCCGACTTTGCCCTGG	0.562000														73			8		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90072329	90072329	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:90072329C>T	uc003kju.3	+	60	12559	c.12463C>T	c.(12463-12465)Ccg>Tcg	p.P4155S	GPR98_uc003kjt.3_Missense_Mutation_p.P1861S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4155					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATAGCTCCGTCATCTAG	0.428000														21			9		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70275840	70275840	+	Silent	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr13:70275840T>C	uc001vip.3	-	10	3035	c.2241A>G	c.(2239-2241)caA>caG	p.Q747Q	KLHL1_uc010thm.2_Silent_p.Q686Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	747					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)		TAAGTCAAGGTTGCTTGATGA	0.348000														19			7		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552289	68552289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:68552289C>T	uc001oog.4	-	9	1327	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	CPT1A_uc001oof.4_Missense_Mutation_p.G386E	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	386					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCACCTGTCTCCTGCGGTGAG	0.662000														27			16		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39626234	39626234	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:39626234C>T	uc003axf.3	-	5	1446	c.457_splice	c.e5-1	p.V153_splice	PDGFB_uc003axe.3_Splice_Site_p.V138_splice	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	153					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	TCTTTCTCACCTGGAGGACAG	0.582000			T	COL1A1	DFSP									46			17		0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363385	4363385	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:4363385G>A	uc002maj.3	-	6	910	c.710C>T	c.(709-711)gCg>gTg	p.A237V	SH3GL1_uc002mak.3_Missense_Mutation_p.A173V|SH3GL1_uc010xig.2_Missense_Mutation_p.A189V	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	237	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAGCTTCTCCGCCAGCTCGTC	0.652000			T	MLL	AL									19			5		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953467	227953467	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:227953467C>A	uc021vxr.1	-	20	1626	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	COL4A4_uc021vxs.1_Missense_Mutation_p.G509W	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	509	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGCCTCCCAGGAAGTCCT	0.582000														85			11		4.3838e-07	4.46559e-07	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33525517	33525517	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:33525517G>A	uc021vft.1	+	21	3259	c.3236_splice	c.e21-1	p.D1079_splice	LTBP1_uc002rou.3_Splice_Site_p.D753_splice|LTBP1_uc002rov.3_Splice_Site_p.D700_splice|LTBP1_uc010ymz.2_Splice_Site_p.D753_splice|LTBP1_uc010yna.2_Splice_Site_p.D700_splice|LTBP1_uc010ynb.2_Splice_Site_p.D19_splice	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1079	EGF-like 9; 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)				TGTGTTTGCAGATATTGATGA	0.453000														54			18		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49855113	49855113	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:49855113C>T	uc004dos.1	+	9	2123	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S	CLCN5_uc004dor.1_Silent_p.S695S|CLCN5_uc004doq.1_Silent_p.S695S|CLCN5_uc004dot.1_Silent_p.S625S	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	625	CBS 1.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGGTGGTATCCCGGGAGTCCC	0.458000														16			11		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254794	3254794	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:3254794C>T	uc010uwu.2	+	0	548	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTGACTCCCCTACTGAAA	0.512000														73			22		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790197	39790197	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:39790197C>T	uc001wvi.4	+	18	1960	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	CTAGE5_uc010tqe.1_Missense_Mutation_p.P499S|CTAGE5_uc001wuy.4_Missense_Mutation_p.P457S|CTAGE5_uc001wuz.4_Missense_Mutation_p.P525S|CTAGE5_uc001wva.4_Missense_Mutation_p.P508S|CTAGE5_uc001wvb.4_Intron|CTAGE5_uc001wvc.4_Intron|CTAGE5_uc001wvf.4_Missense_Mutation_p.P462S|CTAGE5_uc001wvg.4_Missense_Mutation_p.P537S|CTAGE5_uc001wvh.4_Intron|CTAGE5_uc010amz.3_Missense_Mutation_p.P153S|CTAGE5_uc001wvj.4_Missense_Mutation_p.P508S	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	537	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTTCTCTCTCCTCCAACTTT	0.413000														57			25		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812975	156812975	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:156812975G>A	uc010pht.2	-	16	3246	c.2947C>T	c.(2947-2949)Cgg>Tgg	p.R983W	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	983	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	p.R983W(3)		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)					CCCAGTTCCCGGATTATCGAG	0.587000														37			10		0	0	1	0	0
C8orf22	492307	broad.mit.edu	37	8	49986799	49986799	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:49986799C>T	uc003xqq.4	+	3	323	c.140C>T	c.(139-141)cCt>cTt	p.P47L		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	47								p.L46F(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGGTTGCCTGAAGTGGCA	0.333000														23			7		0	0	1	0	0
PRM1	5619	broad.mit.edu	37	16	11375088	11375088	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:11375088C>T	uc002dav.3	-	0	105	c.8G>A	c.(7-9)aGg>aAg	p.R3K	RMI2_uc002daq.1_Intron	NM_002761	NP_002752	P04553	HSP1_HUMAN	Homo sapiens protamine 1 (PRM1), mRNA.	3					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		large_intestine(2)|skin(2)	4						GCATCTGTACCTGGCCATGGT	0.612000														66			15		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127448572	127448572	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:127448572T>C	uc003kus.3	+	1	987	c.823T>C	c.(823-825)Tat>Cat	p.Y275H	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.Y275H	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	275					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)	TGTGGTCACGTATACTGCAGA	0.368000														61			19		0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44485899	44485899	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:44485899G>A	uc002xqa.2	-	0	150	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ACOT8_uc010zxe.2_Missense_Mutation_p.P19L|ACOT8_uc002xqc.2_Missense_Mutation_p.P11S|ACOT8_uc010zxf.2_Missense_Mutation_p.P19L|ZSWIM3_uc010zxg.2_5'Flank|ZSWIM3_uc002xqd.3_5'Flank	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	19					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	p.P19S(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GTCCCCAGGGGGATCGCCGCG	0.672000														16			9		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29455309	29455309	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:29455309C>T	uc002rmy.3	-	14	3445	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	831	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCACTCCATCCTTCATCTGAC	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					31			3		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793105	143793105	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:143793105G>A	uc011kty.2	+	0	905	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCTCTAAAGAGAGTCCTTTGG	0.448000														184			49		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902354	24902354	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:24902354G>A	uc002dmu.3	+	8	1060	c.829G>A	c.(829-831)Gga>Aga	p.G277R	SLC5A11_uc002dms.3_Missense_Mutation_p.G213R|SLC5A11_uc010vcd.2_Missense_Mutation_p.G242R|SLC5A11_uc002dmt.3_Intron|SLC5A11_uc010vce.2_Missense_Mutation_p.G207R|SLC5A11_uc010bxt.3_Missense_Mutation_p.G213R	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	277					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGTCCTATTTGGAATGTCCAT	0.562000														102			50		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490168	37490168	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:37490168C>T	uc021ppc.1	+	30	2715	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	ANKRD30A_uc001iza.1_Silent_p.L872L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	928						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						AACAGAGTCTCCGTGAGACTG	0.274000														40			14		0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505301	197505301	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:197505301C>T	uc003fyi.2	+	7	1043	c.824C>T	c.(823-825)cCc>cTc	p.P275L	FYTTD1_uc011bui.1_Missense_Mutation_p.P249L|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.P208L	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	275					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	p.P275L(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAAGGTGTTCCCCTGCAGTTT	0.358000														22			9		0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167435966	167435966	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:167435966C>T	uc003qvj.3	+	7	734	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Missense_Mutation_p.L170F|FGFR1OP_uc003qvk.3_Missense_Mutation_p.L197F	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	217					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		CAAAAGCAGCCTTCACTTACT	0.428000			T	FGFR1	"""MPD, NHL"""									42			21		0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100207779	100207779	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:100207779G>A	uc001dsh.1	-	4	986	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	128	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CATTCCAGTAGACTTTAATTT	0.418000														40			5		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336568	35336568	+	Splice_Site	SNP	A	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:35336568A>C	uc001mwd.3	-	3	902	c.310_splice	c.e3+1	p.G104_splice	SLC1A2_uc021qfx.1_Splice_Site_p.G95_splice|SLC1A2_uc001mwe.3_Splice_Site_p.G95_splice|SLC1A2_uc010rev.1_Splice_Site_p.G104_splice	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	104					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGGTAGTCTTACCTGTGATTA	0.428000														51			12		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47192825	47192825	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:47192825G>A	uc002pfh.3	-	14	2282	c.1940C>T	c.(1939-1941)cCt>cTt	p.P647L	PRKD2_uc010eks.3_Missense_Mutation_p.P50L|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Missense_Mutation_p.P490L|PRKD2_uc002pfi.3_Missense_Mutation_p.P647L|PRKD2_uc002pfj.3_Missense_Mutation_p.P647L|PRKD2_uc010xye.2_Missense_Mutation_p.P647L|PRKD2_uc002pfk.3_Missense_Mutation_p.P490L	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	647	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGCGCTCAGGCAGCCGGCC	0.607000														16			13		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190903844	190903844	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:190903844A>C	uc011clg.2	-	3	1141	c.923T>G	c.(922-924)gTc>gGc	p.V308G				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	380					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CTGCTCTGAGACCCGCTTGAG	0.547000														49			27		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415991	30415992	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:30415991_30415992CC>TT	uc003agv.4	+	16	2671_2672	c.2343_2344CC>TT	c.(2341-2346)gtcccc>gtTTcc	p.P782S	MTMR3_uc003agu.4_Missense_Mutation_p.P782S|MTMR3_uc003agw.4_Missense_Mutation_p.P782S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	782					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCTCCAGGTCCCCCCCAGGGG	0.550000														70			17		0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428158	74428158	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:74428158G>A	uc001xph.3	+	10	1176	c.1095_splice	c.e10-1	p.G365_splice	ENTPD5_uc001xpi.3_Intron|COQ6_uc001xpe.3_Splice_Site_p.G290_splice|COQ6_uc010tuk.2_Splice_Site_p.G340_splice|COQ6_uc021rwk.1_Splice_Site_p.G290_splice	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	365					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTATTCTTAGGGATGCAGCCC	0.562000														30			8		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172752932	172752932	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:172752932A>G	uc003mco.1	-	1	1543	c.233T>C	c.(232-234)aTt>aCt	p.I78T	STC2_uc003mcn.1_5'UTR	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	78					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TAAGCCCCGAATCTCACAAGA	0.458000														237			108		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916174	131916174	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:131916174G>A	uc003ytd.4	-	6	2011	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	ADCY8_uc010mds.3_Silent_p.Y585Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	585					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.T584T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTAATTAAGTAAGTTTCGA	0.488000										HNSCC(32;0.087)				67			29		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48887752	48887752	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:48887752C>T	uc004dmb.3	-	9	1883	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TFE3_uc004dmc.3_Missense_Mutation_p.D444N	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	549					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCAGGGGATCGGAGGCAGCC	0.667000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									29			4		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20112428	20112428	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:20112428C>T	uc003wzr.3	-	0	376	c.265G>A	c.(265-267)Gat>Aat	p.D89N	LZTS1_uc010ltg.2_Missense_Mutation_p.D89N	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	89					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCCCCTAAATCCCCGCTGGAC	0.587000														42			6		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928185	15928185	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:15928185C>T	uc003jfn.1	+	2	795	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	105					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGCTCGCCTCCAGACCCCAG	0.687000														19			8		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334619	69334619	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:69334619C>T	uc003hdz.4	+	3	345	c.281C>T	c.(280-282)tCt>tTt	p.S94F		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	94	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTTATAAATCTCCATTAAGG	0.294000														51			26		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460696	179460696	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:179460696G>A	uc001gmo.3	+	18	2502	c.2115G>A	c.(2113-2115)atG>atA	p.M705I	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.M663I|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	705										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATATATCTATGATCCAGTGGA	0.318000														68			10		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75623074	75623074	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:75623074C>T	uc001oxc.3	+	5	825	c.584C>T	c.(583-585)tCt>tTt	p.S195F	UVRAG_uc010rrw.2_Missense_Mutation_p.S94F	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	195					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATGTCTTCTCTTTGCTACGG	0.358000														45			23		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123779713	123779713	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:123779713G>A	uc004bkv.3	-	13	1823	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	C5_uc010mvm.1_Missense_Mutation_p.S598F|C5_uc010mvn.1_Missense_Mutation_p.S598F	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	598					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGCCACCCAGGAATCCATTCC	0.443000														22			11		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702300	27702300	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:27702300G>A	uc001itu.2	-	0	998	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	294					spermatid development	integral to membrane	hedgehog receptor activity	p.P294S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGTAGAGGGGATGCCTGCCG	0.612000														23			17		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633487	46633487	+	Missense_Mutation	SNP	C	T	T	rs75571325		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:46633487C>T	uc009zkj.1	-	2	782	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E33K|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.E33K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	33					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.E33K(2)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTTCTACTTCGGTGAAATCA	0.388000														67			42		0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89015862	89015862	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:89015862T>A	uc002bml.3	+	2	452	c.187T>A	c.(187-189)Tac>Aac	p.Y63N	MRPS11_uc002bmm.3_Intron|MRPS11_uc002bmn.3_Missense_Mutation_p.Y62N|MRPS11_uc010bnj.3_Non-coding_Transcript	NM_022839	NP_073750	P82912	RT11_HUMAN	Homo sapiens mitochondrial ribosomal protein S11 (MRPS11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGCAGCATTTACCCTCCCAT	0.383000														20			16		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	722403	722403	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:722403C>T	uc001lqt.3	+	12	1309	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	EPS8L2_uc001lqu.3_Silent_p.I354I|EPS8L2_uc010qwk.2_Silent_p.I370I|EPS8L2_uc001lqv.3_Silent_p.I309I|EPS8L2_uc001lqw.3_5'UTR|EPS8L2_uc001lqx.3_5'UTR|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	354						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCCAGATCGTCAACACCT	0.662000														35			7		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621250	24621250	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:24621250C>T	uc002zzp.4	-	9	1886	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	GGT5_uc002zzo.4_Missense_Mutation_p.G489E|GGT5_uc002zzr.4_Missense_Mutation_p.G457E|GGT5_uc002zzq.4_Missense_Mutation_p.G457E|GGT5_uc011ajm.2_Missense_Mutation_p.G413E	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	489					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G489R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGCCAGCCCCGCCAATCAC	0.617000														81			23		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8408108	8408108	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:8408108G>A	uc002glm.3	-	27	3599	c.3503C>T	c.(3502-3504)gCc>gTc	p.A1168V	MYH10_uc002gll.3_Missense_Mutation_p.A1137V|MYH10_uc010cnx.3_Missense_Mutation_p.A1146V	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1137					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGCTTTTCGGCCTTGTTCCG	0.507000														97			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240964	3240964	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:3240964G>A	uc004crg.4	-	4	2919	c.2762C>T	c.(2761-2763)tCt>tTt	p.S921F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	921						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)				CAGAGTAGGAGATGGTTCATA	0.498000														44			26		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213466	9213466	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:9213466T>C	uc010xkk.2	-	0	517	c.517A>G	c.(517-519)Agt>Ggt	p.S173G		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTCACAACACTAGTCAACAGA	0.522000														26			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275852	238275852	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:238275852G>A	uc002vwl.2	-	10	5263	c.4978C>T	c.(4978-4980)Cgt>Tgt	p.R1660C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1454C|COL6A3_uc010znj.1_Missense_Mutation_p.R1053C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1660	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACAAAACGAAGCACTTCC	0.443000														32			3		0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56903162	56903162	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:56903162T>C	uc002qmy.3	-	1	346	c.53A>G	c.(52-54)aAc>aGc	p.N18S	ZNF582_uc002qmz.1_5'UTR|LOC386758_uc002qna.2_5'Flank|LOC386758_uc002qnb.2_5'Flank|LOC386758_uc021vce.1_5'Flank	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CTCCTTCTGGTTCCTCTCTTG	0.463000														75			7		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382116	3382116	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:3382116C>T	uc010xhi.2	+	1	507	c.437C>T	c.(436-438)aCc>aTc	p.T146I	NFIC_uc002lxo.3_Missense_Mutation_p.T137I|NFIC_uc010xhh.2_Missense_Mutation_p.T137I|NFIC_uc010xhj.2_Missense_Mutation_p.T146I|NFIC_uc002lxp.3_Missense_Mutation_p.T146I	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	146					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTGGAGAGCACCGACGGCGAG	0.667000														106			61		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190146	58190146	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:58190146G>A	uc002qpu.3	+	4	1872	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	392					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G392V(2)		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)		ATCCACACAGGAGAAAAGCCT	0.453000														170			17		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														127			7		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73913921	73913921	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:73913921C>T	uc002jqc.3	-	21	2626	c.2352G>A	c.(2350-2352)gaG>gaA	p.E784E	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.E775E|FBF1_uc002jqd.1_Silent_p.E785E|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.E95E	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	784										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCCCAGCCGCTCCTGCAGTG	0.697000														12			7		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21209742	21209742	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:21209742C>T	uc002wsb.3	+	10	1902	c.1769C>T	c.(1768-1770)tCa>tTa	p.S590L	PLK1S1_uc010zsh.2_Missense_Mutation_p.S487L|PLK1S1_uc010zsi.2_Missense_Mutation_p.S457L|PLK1S1_uc010zsj.2_Non-coding_Transcript|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	591					spindle organization	centrosome	protein kinase binding										GCTTCTGTGTCACACTTGTCA	0.468000														19			4		0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535171	190535171	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:190535171C>T	uc002uqt.3	+	5	2085	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	551	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTTAGATTTCCTTTCCTGGA	0.299000														23			6		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898630	159898630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:159898630C>T	uc001fur.2	-	18	2746	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	IGSF9_uc001fuq.2_Missense_Mutation_p.D834N|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	850	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGCGCCCGTCTGGGCCCCGG	0.697000														13			4		0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10530802	10530802	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:10530802C>T	uc009zhj.3	-	6	639	c.462G>A	c.(460-462)tgG>tgA	p.W154*	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.W154*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.W154*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.W154*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	154	C-type lectin.				T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTAGTCCCATCCAATGATATG	0.383000														69			19		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210594984	210594984	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:210594984C>T	uc002vde.1	+	14	5595	c.5347C>T	c.(5347-5349)Cca>Tca	p.P1783S	MAP2_uc002vdd.1_Missense_Mutation_p.P515S|MAP2_uc002vdf.1_Missense_Mutation_p.P458S|MAP2_uc002vdg.1_Missense_Mutation_p.P427S|MAP2_uc002vdh.1_Missense_Mutation_p.P484S|MAP2_uc002vdi.1_Missense_Mutation_p.P1779S	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1783					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TACACAGTCCCCAGGCAGATC	0.522000														24			5		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20780064	20780064	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:20780064G>A	uc002zsj.2	-	10	2319	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	SCARF2_uc002zsk.2_Silent_p.L733L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	733	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGGCGCAGCGAGGGCTGTCG	0.801000														5			7		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101077016	101077016	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:101077016G>A	uc003pqk.3	-	26	4579	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1417	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K1416I(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTGGCAATGGATTTCATATC	0.428000														32			8		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115828	158115828	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:158115828G>A	uc002tzg.3	+	0	1489	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	412					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCATATAAAAGCCCTTTTACC	0.478000														49			28		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349628	48349628	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:48349628G>A	uc003toq.2	+	23	9430	c.9406G>A	c.(9406-9408)Gaa>Aaa	p.E3136K	ABCA13_uc010kys.1_Missense_Mutation_p.E210K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3136					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCCAAAGGGGAAAAATCTTG	0.483000														160			38		0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097430	202097430	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:202097430G>A	uc001gxj.3	+	1	1255	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	398						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGACCTCCTGGGCCTCATCAA	0.632000														67			22		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306409	54306409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:54306409C>T	uc021smr.1	+	0	1309	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	UNC13C_uc021sms.1_Missense_Mutation_p.P437S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	437					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)		GTTGTCTACTCCAGAGCCAAA	0.398000														66			19		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51754581	51754581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:51754581G>A	uc001ryk.2	-	5	1316	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Missense_Mutation_p.S364F|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	364	Catalytic subdomain B.				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						CTCAAAGTAGGACTTGGAGAT	0.557000														30			13		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126249548	126249548	+	Silent	SNP	A	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:126249548A>G	uc003vlr.2	-	6	1673	c.1362T>C	c.(1360-1362)agT>agC	p.S454S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.S454S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	454					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S454N(1)		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)	GAGTGCCAGCACTGCCTATAA	0.333000										HNSCC(24;0.065)				42			3		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95072831	95072831	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:95072831G>A	uc001kin.3	-	50	5958	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S	MYOF_uc001kio.3_Silent_p.S1932S|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1945					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCCTTTCATGGACTTCTGCT	0.478000														203			117		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418242	1418242	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:1418242C>T	uc002qwr.3	+	1	148	c.62C>T	c.(61-63)cCc>cTc	p.P21L	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.P21L|TPO_uc002qww.3_Missense_Mutation_p.P21L|TPO_uc002qwx.3_Missense_Mutation_p.P21L|TPO_uc002qwu.3_Missense_Mutation_p.P21L|TPO_uc010yio.2_Missense_Mutation_p.P21L|TPO_uc010yip.2_Missense_Mutation_p.P21L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	21					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)	GCCTTCTTCCCCTTCATCTCG	0.448000														21			7		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885983	45885983	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:45885983G>A	uc002pbn.3	-	12	2326	c.2249_splice	c.e12-1	p.D750_splice	PPP1R13L_uc002pbm.3_Splice_Site_p.D329_splice|PPP1R13L_uc002pbo.3_Splice_Site_p.D750_splice	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	750					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTGCTCGACGTCTGAAACAT	0.647000														24			6		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264281	25264281	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:25264281G>A	uc002dod.4	-	2	1071	c.664C>T	c.(664-666)Cct>Tct	p.P222S	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S14F|ZKSCAN2_uc002doe.2_Missense_Mutation_p.P222S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GACCCAGCAGGAAGCCGTGTG	0.493000														118			22		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27248744	27248744	+	Silent	SNP	G	A	A	rs148610349		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:27248744G>A	uc002hdg.1	-	4	1328	c.798C>T	c.(796-798)ctC>ctT	p.L266L	PHF12_uc010wbb.1_Silent_p.L248L|PHF12_uc002hdi.1_Silent_p.L262L|PHF12_uc002hdj.1_Silent_p.L266L|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Silent_p.L49L	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	266	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.L266L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTAAGGGAACGAGACCATTGT	0.388000														63			12		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11898985	11898985	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:11898985C>T	uc002wnz.3	+	0	421	c.62C>T	c.(61-63)aCg>aTg	p.T21M	BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	21										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CTTCCAGAGACGGTAAAGAAC	0.408000														208			21		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623663	143623663	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:143623663G>A	uc003ywm.3	+	26	4251	c.4068G>A	c.(4066-4068)cgG>cgA	p.R1356R		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1356					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACGCTGCGGCCCAAGCCCA	0.667000														24			9		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459380	56459380	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:56459380G>A	uc002qmh.3	+	0	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NLRP8_uc010etg.3_Missense_Mutation_p.E38K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	38	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCCCATGTGAAAATGGGGT	0.527000														38			21		0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71574087	71574087	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:71574087G>A	uc003xyp.3	-	1	260	c.168C>T	c.(166-168)atC>atT	p.I56I	LOC286190_uc022avq.1_Non-coding_Transcript	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	56							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTAAACAGCTGATGTATTCTG	0.403000														45			18		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47231919	47231919	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:47231919G>T	uc002pfm.3	-	6	1028	c.995C>A	c.(994-996)cCa>cAa	p.P332Q	STRN4_uc002pfl.3_Missense_Mutation_p.P332Q|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	332						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCGAGGGTCTGGAGCCCCTTC	0.612000														51			8		3.86212e-05	3.90503e-05	1	1	0
CRIPT	9419	broad.mit.edu	37	2	46850911	46850911	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:46850911C>T	uc002rve.3	+	3	243	c.146C>T	c.(145-147)cCa>cTa	p.P49L		NM_014171	NP_054890	Q9P021	CRIPT_HUMAN	Homo sapiens cysteine-rich PDZ-binding protein (CRIPT), mRNA.	49						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGATTTGATCCATATGGAAAG	0.353000														27			9		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183091340	183091340	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:183091340C>T	uc001gpy.4	+	12	2612	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	785	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTTGTTCCCAAGACAAAGG	0.507000														90			22		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389970	124389970	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:124389970A>T	uc001lgk.1	+	44	5708	c.5602A>T	c.(5602-5604)Act>Tct	p.T1868S	DMBT1_uc001lgl.1_Missense_Mutation_p.T1858S|DMBT1_uc001lgm.1_Missense_Mutation_p.T1240S|DMBT1_uc021qaf.1_Missense_Mutation_p.T1868S|DMBT1_uc021qag.1_Missense_Mutation_p.T1858S|DMBT1_uc021qah.1_Missense_Mutation_p.T1240S|DMBT1_uc009xzz.1_Missense_Mutation_p.T1868S|DMBT1_uc010qtx.1_Missense_Mutation_p.T588S|DMBT1_uc009yab.1_Missense_Mutation_p.T571S|DMBT1_uc009yac.1_Missense_Mutation_p.T162S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1868	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	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)				TTTCCAAAACACTGGCTTTTT	0.458000														21			11		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171225751	171225751	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:171225751G>A	uc002ufy.3	+	8	978	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	MYO3B_uc002ufv.3_Missense_Mutation_p.E266K|MYO3B_uc010fqb.1_Missense_Mutation_p.E279K|MYO3B_uc002ufz.3_Missense_Mutation_p.E279K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.E266K|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	279	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						TAAGGATTTTGAAAGGCGACC	0.418000														49			13		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128141	83128141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:83128141C>T	uc004eei.1	+	3	446	c.425C>T	c.(424-426)cCa>cTa	p.P142L	CYLC1_uc004eeh.1_Missense_Mutation_p.P141L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	142					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCAACAAATCCAGAATCCAAG	0.323000														10			3		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78909364	78909364	+	Splice_Site	SNP	A	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:78909364A>T	uc002bec.3	-	4	878	c.377_splice	c.e4+1	p.N126_splice	CHRNA3_uc002beb.3_Splice_Site_p.N126_splice|CHRNA3_uc002bea.3_Splice_Site	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	126					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCACCTTACTTGTTATAC	0.552000														14			10		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166440	59166440	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:59166440G>A	uc010dps.1	+	1	420	c.268G>A	c.(268-270)Gga>Aga	p.G90R	CDH20_uc002lif.2_Missense_Mutation_p.G84R	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	90	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TATGGACAGGGGAGACGGATC	0.468000														21			9		0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203165002	203165002	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:203165002C>T	uc002uzb.3	+	12	1464	c.1314C>T	c.(1312-1314)acC>acT	p.T438T		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	438					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CACTTCCAACCTGTTCTAAAA	0.333000														54			16		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063668	170063668	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:170063668T>C	uc002ues.3	-	38	6775	c.6562A>G	c.(6562-6564)Aca>Gca	p.T2188A		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2188					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			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)	ATGTCCACTGTGACTTTAAGA	0.428000														99			30		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868113	23868113	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:23868113C>T	uc001wjv.3	-	14	1786	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	572	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)		TTCCTGCTTCCCCTTGATGTT	0.537000														68			14		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10166317	10166317	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:10166317C>T	uc021ogc.1	+	6	1560	c.872C>T	c.(871-873)cCg>cTg	p.P291L	UBE4B_uc001aqs.4_Missense_Mutation_p.P291L|UBE4B_uc001aqr.4_Intron|UBE4B_uc010oai.2_Intron|UBE4B_uc010oaj.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	291					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTGATGGGCCCGTCTCTTGCC	0.557000														53			11		0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183255866	183255866	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:183255866C>T	uc001gqc.2	-	4	611	c.379G>A	c.(379-381)Gga>Aga	p.G127R	NMNAT2_uc001gqb.2_Missense_Mutation_p.G122R|NMNAT2_uc001gqd.3_Missense_Mutation_p.G22R	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	127					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TGTGGCTGTCCGATCACAGGT	0.522000														49			13		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47102868	47102868	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:47102868G>T	uc004dhp.3	+	12	1786	c.1786G>T	c.(1786-1788)Gag>Tag	p.E596*	USP11_uc004dhq.3_Nonsense_Mutation_p.E323*	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	596					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTACCTGCGGGAGCGCACCCC	0.607000														46			15		3.41278e-10	3.50259e-10	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:18955510G>A	uc001mpg.3	-	0	1040	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F273S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000														125			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616488	92616488	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:92616488T>C	uc001pdj.4	+	22	12883	c.12866T>C	c.(12865-12867)cTc>cCc	p.L4289P	FAT3_uc001pdi.4_Missense_Mutation_p.L729P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4289					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L4289P(2)|p.L864P(1)		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)				GCCCCCAACCTCCCCGCCGTG	0.652000										TCGA Ovarian(4;0.039)				50			12		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980469	110980469	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:110980469G>A	uc003ynr.4	-	2	2155	c.1351C>T	c.(1351-1353)Cta>Tta	p.L451L	KCNV1_uc010mcw.3_Silent_p.L451L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	451						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGCTTCTTTAGGGCTTCACGC	0.443000														29			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788950	13788950	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:13788950G>A	uc003jfd.2	-	50	8564	c.8522C>T	c.(8521-8523)aCc>aTc	p.T2841I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2841					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)					ATCAAACCAGGTCACATCACT	0.383000									Kartagener syndrome					67			22		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48206956	48206956	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:48206956C>T	uc004djd.1	-	6	644	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TCATCTTCCTCAGGATCGCTG	0.488000														228			37		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546999	37546999	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:37546999C>T	uc002xje.3	+	10	1583	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	PPP1R16B_uc010ggc.3_Missense_Mutation_p.A423V	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	465					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GTGGCCGACGCCACCCCGCCC	0.637000														85			30		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085199	87085199	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:87085199C>T	uc002srw.3	-	1	443	c.384G>A	c.(382-384)aaG>aaA	p.K128K	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.K128K|CD8B_uc002sry.3_Silent_p.K128K|CD8B_uc010fgt.3_Silent_p.K128K|CD8B_uc002srz.3_Silent_p.K128K|CD8B_uc010yto.2_Silent_p.K128K	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	128	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCTGAGTTCCCTTCCCGAAGG	0.567000														121			40		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89984764	89984764	+	Silent	SNP	G	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:89984764G>C	uc001tbh.3	-	19	3841	c.3660C>G	c.(3658-3660)ctC>ctG	p.L1220L	ATP2B1_uc001tbg.3_3'UTR|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Silent_p.L854L	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1258					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTTACAATCAGAGTGATGTTT	0.388000														79			13		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563369	8563369	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:8563369C>T	uc002mkd.3	-	1	1386	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCAGAGGCCTCCGCCGGGGTG	0.711000														19			6		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567300	223567300	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:223567300C>T	uc001hoa.2	+	0	586	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	161										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTGGCACATTCAGGGTAGAAA	0.667000														24			5		0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101818209	101818209	+	RNA	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:101818209G>A	uc004ejf.1	+	6		c.799G>A								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						ACCCAGGTATGGCTGACAGCA	0.537000														119			13		0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5089998	5089998	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:5089998C>T	uc002wlk.3	-	2	327	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMEM230_uc010gbi.3_Missense_Mutation_p.D27N|TMEM230_uc002wll.3_Missense_Mutation_p.D27N|TMEM230_uc002wlm.3_Missense_Mutation_p.D27N|TMEM230_uc002wln.3_Missense_Mutation_p.D27N	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	27						integral to membrane											ATGTAGCCATCGTCTGTGCTG	0.468000														21			7		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680211	63680211	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:63680211G>A	uc011kdn.2	+	3	782	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGACATAAGAGAATTCACACT	0.443000														16			4		0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936209	152936209	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:152936209G>A	uc011myu.2	-	9	1319	c.1133C>T	c.(1132-1134)aCa>aTa	p.T378I	PNCK_uc011myt.2_Missense_Mutation_p.T312I|PNCK_uc004fhz.4_Missense_Mutation_p.T193I	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	295						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCAGTGTGTCCGAGCAAA	0.607000														34			3		0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165227	1165227	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:1165227C>T	uc003gco.4	-	2	597	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	SPON2_uc021xkj.1_Missense_Mutation_p.V90I|SPON2_uc010ibr.3_Missense_Mutation_p.V90I|SPON2_uc003gcm.1_Missense_Mutation_p.V8I	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	90	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCGTTACTGACGTACTGGTTC	0.697000														57			7		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27697463	27697463	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:27697463C>T	uc001boa.3	-	6	400	c.394_splice	c.e6-1	p.V132_splice	FCN3_uc001bob.3_Splice_Site_p.V121_splice	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	132	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)		CTCTGAAACACCTGGGGGAGG	0.572000														79			8		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32835893	32835893	+	Silent	SNP	C	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr13:32835893C>G	uc001utx.3	+	51	8053	c.7557C>G	c.(7555-7557)tcC>tcG	p.S2519S	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.S44S|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2519					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)		ATGAGGACTCCGATGAATCAT	0.522000														40			5		0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126137981	126137981	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:126137981C>T	uc001qdh.3	-	2	296	c.118_splice	c.e2-1	p.E40_splice	SRPR_uc010sbm.2_Intron|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank|FOXRED1_uc001qdk.3_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	40					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCTCCCCGTTCCTGGAGAAAG	0.488000														25			17		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542784	26542784	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr13:26542784G>A	uc001uqk.3	+	34	3486	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E	ATP8A2_uc010tdi.2_Missense_Mutation_p.G1050E|ATP8A2_uc010tdj.2_Non-coding_Transcript	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	1075					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGAGTCCTGGGAAAAGCGGTG	0.537000														26			5		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216125	103216125	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:103216125C>T	uc022ajr.1	-	28	4333	c.4173G>A	c.(4171-4173)gaG>gaA	p.E1391E	RELN_uc022ajq.1_Silent_p.E1391E|RELN_uc010liz.3_Silent_p.E1391E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1391					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGAGCTGCTCTCCTGGATCC	0.448000														49			19		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158454697	158454697	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:158454697C>T	uc003qqx.2	+	3	802	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.F232F|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.F181F|SYNJ2_uc010kjo.1_Silent_p.F181F	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	232	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTCCAACTTCGTGGAGACAG	0.617000														38			9		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224628	3224628	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:3224628C>T	uc022aqr.1	-	19	3431	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	CSMD1_uc011kwj.2_Missense_Mutation_p.G407E|CSMD1_uc003wqe.3_Missense_Mutation_p.G171E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1015	CUB 6.					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)		AGTGAAGTTTCCAAACAGGCC	0.473000														11			3		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874755	33874755	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:33874755G>A	uc021wck.1	-	3	1945	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.P264P	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	609										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)			TGGTTTCAAGGGGCACTCTGG	0.627000														54			22		0	0	1	0	0
GAGE2B	645037	broad.mit.edu	37	X	49236844	49236844	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:49236844G>A	uc004dny.4	+	1	111	c.14G>A	c.(13-15)gGa>gAa	p.G5E	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnv.4_Intron|GAGE2B_uc011mnk.2_Intron|GAGE2B_uc011mnl.2_Missense_Mutation_p.G5E|GAGE2B_uc004dnz.4_Missense_Mutation_p.G5E|GAGE2B_uc022bwd.1_Missense_Mutation_p.G5E|GAGE2B_uc011mnn.1_Missense_Mutation_p.G5E	NM_001472	NP_001091881			Homo sapiens G antigen 2C (GAGE2C), mRNA.																		AGTTGGCGAGGAAGATCGACC	0.463000														187			73		0	0	1	0	0
FXC1	26515	broad.mit.edu	37	11	6503274	6503275	+	Splice_Site	DNP	GG	AA	AA			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:6503274_6503275GG>AA	uc001mdn.4	+	3	206	c.136_splice	c.e3-1	p.E46_splice	ARFIP2_uc001mdk.3_5'Flank|ARFIP2_uc010ran.2_5'Flank|ARFIP2_uc010ral.2_5'Flank|ARFIP2_uc010ram.2_5'Flank|ARFIP2_uc009yfe.2_5'Flank|FXC1_uc001mdo.4_Splice_Site	NM_012192	NP_036324	Q9Y5J6	TIM9B_HUMAN	Homo sapiens fracture callus 1 homolog (rat) (FXC1), nuclear gene encoding mitochondrial protein, mRNA.	46					cell-matrix adhesion|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	metal ion binding						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.26e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCCTTCTAGGAGGCCTGTCT	0.604000														106			29		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552767	140552767	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:140552767C>T	uc003lit.3	+	0	525	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	117	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGATTTTCCGTGCTGAAC	0.448000														55			18		0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112393	136112393	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:136112393C>T	uc011mwh.2	-	0	1441	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	481						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGGCTATCTTCTTTCGGGGGC	0.488000														74			10		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:121761086G>A	uc003ksw.1	+	4	1248	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E348K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E395K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E42K|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.D347H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000														100			27		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605584	171605584	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:171605584C>T	uc001ghu.3	-	2	1018	c.996G>A	c.(994-996)ggG>ggA	p.G332G	MYOC_uc010pmk.2_Silent_p.G274G	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	332	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AATAGAGGCTCCCCGAGTACA	0.522000														56			21		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100674883	100674883	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:100674883T>C	uc003uxp.1	+	3	238	c.185_splice	c.e3-1	p.G62_splice	MUC17_uc010lho.1_Splice_Site	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	62						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTAAACAGGTTCTGCGGCAA	0.413000														50			18		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30887957	30887957	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:30887957C>T	uc001rji.1	-	3	1505	c.754G>A	c.(754-756)Gac>Aac	p.D252N	CAPRIN2_uc001rjf.1_Missense_Mutation_p.D49N|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.D252N|CAPRIN2_uc001rjk.4_Missense_Mutation_p.D252N|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.D252N	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	252					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATGAGGTAGTCAAGTTCTTTT	0.378000														112			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061796	9061796	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:9061796C>T	uc002mkp.3	-	2	25854	c.25650G>A	c.(25648-25650)ccG>ccA	p.P8550P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8552	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						AGGGAAGGCTCGGCCATGGCA	0.498000														30			21		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628422	46628422	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:46628422C>T	uc002inn.3	-	1	970	c.570G>A	c.(568-570)cgG>cgA	p.R190R	HOXB3_uc010wlm.2_Silent_p.R117R|HOXB3_uc010dbf.3_Silent_p.R190R|HOXB3_uc010dbg.3_Silent_p.R190R|HOXB3_uc002ino.3_Silent_p.R190R|HOXB3_uc010wlk.2_Silent_p.R58R|HOXB3_uc010wll.2_Silent_p.R117R	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	190					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R190R(2)|p.K189N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCGTCCGCGCCCGCTTGGACG	0.741000														49			28		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134002600	134002600	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:134002600C>A	uc003kzs.3	+	2	945	c.653C>A	c.(652-654)cCa>cAa	p.P218Q	SEC24A_uc021ydr.1_Missense_Mutation_p.P218Q|SEC24A_uc011cxu.2_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	218	Pro-rich.				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)			GCTGGAGGCCCACCCCCAGTG	0.522000														59			19		8.34094e-07	8.46496e-07	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61937372	61937372	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:61937372C>T	uc011aau.2	+	4	577	c.477C>T	c.(475-477)agC>agT	p.S159S	COL20A1_uc011aav.2_5'UTR	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	159					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCACACCAAGCCAGGATCCGC	0.642000														33			8		0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812418	169812418	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:169812418C>T	uc003maq.1	-	1	434	c.34G>A	c.(34-36)Gga>Aga	p.G12R	KCNIP1_uc003map.3_Intron|KCNMB1_uc003mar.3_Missense_Mutation_p.G12R	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	12					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CGTGTCTCTCCCCGCTTCTGG	0.537000														25			12		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31015394	31015394	+	Silent	SNP	G	A	A	rs146944568	byFrequency	TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:31015394G>A	uc003tbx.3	+	9	933	c.885G>A	c.(883-885)gtG>gtA	p.V295V	GHRHR_uc003tby.3_Silent_p.V231V|GHRHR_uc003tbz.3_Missense_Mutation_p.E62K	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	295					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ATTTCCAGGTGAACTTTGGGC	0.517000														32			14		0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13705498	13705498	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:13705498C>T	uc001ims.3	-	18	1967	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	FRMD4A_uc009xjf.1_Missense_Mutation_p.A539T	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	539						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCTTCACTGGCAATGTTTCCA	0.433000														23			16		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84284813	84284814	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:84284813_84284814CT>TC	uc021zcf.1	-	24	2387_2388	c.2357_2358AG>GA	c.(2356-2358)gag>gGA	p.E786G	SNAP91_uc011dzd.2_Missense_Mutation_p.E284G|SNAP91_uc003pka.3_Missense_Mutation_p.E784G|SNAP91_uc011dze.2_Missense_Mutation_p.E784G|SNAP91_uc003pkc.3_Missense_Mutation_p.E756G|SNAP91_uc003pkd.3_Missense_Mutation_p.E479G|SNAP91_uc003pkb.3_Missense_Mutation_p.E695G	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	786					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCAACTTTTTCTCTCCAGCATT	0.441000														6			3		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36964237	36964237	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:36964237T>C	uc010xtf.2	-	2	268	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	ZNF566_uc002oea.4_Missense_Mutation_p.M45V|ZNF566_uc010xte.2_Missense_Mutation_p.M45V|ZNF566_uc002oeb.4_Missense_Mutation_p.M45V|ZNF566_uc002oec.4_Intron|ZNF566_uc010xtg.2_Intron	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCTTACCCATTGAAACCAGG	0.438000														46			30		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336711	42336711	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:42336711G>A	uc002igf.4	-	9	844	c.695_splice	c.e9-1	p.G232_splice	SLC4A1_uc021tyc.1_Splice_Site_p.G232_splice	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	232					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGTCGGCGCGGCCTGTTAGGG	0.667000														19			4		0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222185	1222185	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:1222185G>A	uc001adt.1	+	7	1175	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SCNN1D_uc001adu.1_Missense_Mutation_p.E153K|SCNN1D_uc001adw.2_Missense_Mutation_p.E219K|SCNN1D_uc001adv.2_Missense_Mutation_p.E153K|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGCTGGACGAGTTTGCCAG	0.672000														43			18		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165946984	165946984	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:165946984G>A	uc002ucx.3	-	27	6171	c.5679C>T	c.(5677-5679)acC>acT	p.T1893T	SCN3A_uc010zcy.2_Silent_p.T376T|SCN3A_uc002ucy.3_Silent_p.T1844T|SCN3A_uc002ucz.3_Silent_p.T1844T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1893						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTCAAAGTGGTTGTAATAG	0.393000														25			8		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570723	47570723	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:47570723C>T	uc002pga.4	-	14	2840	c.2802G>A	c.(2800-2802)gaG>gaA	p.E934E	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	934							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACGGCCTTCTCCCGCAGGG	0.677000														152			26		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35704661	35704661	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:35704661G>A	uc003jjo.3	+	16	2515	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	SPEF2_uc003jjq.4_Missense_Mutation_p.E797K|SPEF2_uc003jjp.1_Missense_Mutation_p.E288K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	802					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAGCTGAAGAATTGTCCTA	0.338000														36			4		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169934	207169934	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:207169934C>T	uc002vbp.2	+	4	932	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAGAAATATCTTGAACAGCC	0.388000														32			17		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93712586	93712586	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:93712586G>A	uc001ybo.3	-	9	2494	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L	BTBD7_uc010aur.3_Missense_Mutation_p.P248L|BTBD7_uc010two.2_Missense_Mutation_p.P543L|BTBD7_uc001ybp.3_Missense_Mutation_p.P372L	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	723										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTCAAGAGTGGACTTTCATC	0.383000														111			19		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118282	118282	+	RNA	SNP	G	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrGL000205.1:118282G>C	uc002kgk.4	+	0		c.1660G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TTCATCCTGAGCTCAGTGGTG	0.507000														13			3		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000														210			5		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54308622	54308622	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:54308622C>T	uc002qcj.4	-	4	2549	c.2329G>A	c.(2329-2331)Gat>Aat	p.D777N	NLRP12_uc010eqw.3_Missense_Mutation_p.D59N|NLRP12_uc002qch.4_Missense_Mutation_p.D776N|NLRP12_uc002qci.4_Missense_Mutation_p.D776N|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.D777N	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	776					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)		CCACTGAGATCCATCCTTGTC	0.557000														89			37		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7221241	7221241	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:7221241G>A	uc002gga.1	-	25	4078	c.4071C>T	c.(4069-4071)ttC>ttT	p.F1357F	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1355F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCGGAGGCATGAAATAATCTT	0.612000														67			19		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666191	172666191	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:172666191A>C	uc002uhh.2	-	12	1319	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	SLC25A12_uc010fqh.2_Missense_Mutation_p.N303K	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	410					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAACAAAATCATTAACCTAAT	0.388000														60			26		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42774991	42774991	+	Silent	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:42774991G>T	uc003cly.4	-	10	1566	c.1482C>A	c.(1480-1482)ggC>ggA	p.G494G		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	494										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAACATGATCGCCTGCTGAGG	0.542000														125			73		2.9056e-39	3.02759e-39	1	1	0
TRAPPC3	27095	broad.mit.edu	37	1	36603489	36603489	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:36603489G>A	uc001bzx.3	-	3	419	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	111						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TCCACCAAGGGGTTATTTTCC	0.483000														46			22		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117836	117836	+	RNA	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrGL000205.1:117836G>A	uc002kgk.4	+	0		c.1214G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CACCCAGCAGGATTTGCTGTA	0.527000														86			4		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909666	71909666	+	Silent	SNP	C	T	T	rs147263499	byFrequency	TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:71909666C>T	uc010fen.3	+	54	6321	c.6180C>T	c.(6178-6180)ccC>ccT	p.P2060P	DYSF_uc010fei.3_Silent_p.P2038P|DYSF_uc010feh.3_Silent_p.P2028P|DYSF_uc002sig.4_Silent_p.P2007P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P2052P|DYSF_uc010fee.3_Silent_p.P2042P|DYSF_uc010fef.3_Silent_p.P2059P|DYSF_uc002sie.3_Silent_p.P2021P|DYSF_uc010feo.3_Silent_p.P2053P|DYSF_uc010fej.3_Silent_p.P2029P|DYSF_uc010fel.3_Silent_p.P2008P|DYSF_uc010fem.3_Silent_p.P2043P|DYSF_uc002sif.3_Silent_p.P2022P|DYSF_uc010fek.3_Silent_p.P2039P|DYSF_uc010yqy.2_Silent_p.P902P|DYSF_uc010yqz.2_Silent_p.P782P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2021						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						CCAGGCGCCCCGACACCTCCT	0.562000														98			15		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61256066	61256066	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:61256066G>A	uc010xep.2	+	2	333	c.165_splice	c.e2+1	p.E55_splice	SERPINB13_uc002ljc.3_Splice_Site_p.E55_splice|SERPINB13_uc002ljd.3_Splice_Site|SERPINB13_uc010xeq.2_Splice_Site|SERPINB13_uc010xer.2_Splice_Site	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	55					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGTTGGAGGAGGTTGGGCGCA	0.527000														32			5		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105974130	105974130	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:105974130C>T	uc001kxw.3	-	3	587	c.471G>A	c.(469-471)gtG>gtA	p.V157V	WDR96_uc001kxx.4_Silent_p.V157V|WDR96_uc001kxy.1_Silent_p.V157V|WDR96_uc001kxz.3_Silent_p.V157V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	157										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACATTTGGTTCACATCCATTC	0.398000														36			34		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174870	63174870	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:63174870T>C	uc001xfx.3	-	10	2374	c.2323A>G	c.(2323-2325)Aag>Gag	p.K775E	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	775					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGTTCTGCTTAAGGGATTCA	0.488000														31			10		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847621	46847621	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:46847621C>T	uc003oyo.3	-	8	1259	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.A324T|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.A324T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	324	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A324T(2)		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)			TTGAAAAGTGCGGTGTAAATC	0.463000														111			4		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	A	A	rs145666754		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:19553789G>A	uc001vuz.1	+	0	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	125								p.D125E(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000														483			27		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283121	238283121	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:238283121C>T	uc002vwl.2	-	7	3898	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M	COL6A3_uc002vwo.2_Missense_Mutation_p.V999M|COL6A3_uc010znj.1_Missense_Mutation_p.V598M|COL6A3_uc002vwq.3_Missense_Mutation_p.V999M|COL6A3_uc002vwr.3_Missense_Mutation_p.V798M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1205	Nonhelical region.|VWFA 6.				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)		AGCTGGGTCACCCTCTCAGAG	0.607000														43			16		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354506	38354506	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:38354506C>T	uc003cib.2	+	4	1034	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S	SLC22A14_uc010hhc.1_Missense_Mutation_p.P321S|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	321						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCGGAGTCCCCGCGGTGGCT	0.592000														4			4		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107802340	107802340	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:107802340G>A	uc022ccg.1	+	2	390	c.188G>A	c.(187-189)gGa>gAa	p.G63E	COL4A5_uc004enz.1_Missense_Mutation_p.G63E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	63	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGATTGCCTGGATTTCCAGGT	0.468000									Alport syndrome with Diffuse Leiomyomatosis					59			28		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58031069	58031069	+	Silent	SNP	C	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:58031069C>A	uc021rtp.1	-	7	1288	c.1239G>T	c.(1237-1239)gtG>gtT	p.V413V	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.V291V	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATTGAATATCACCTCCTGCT	0.448000														10			4		0.150653	0.150653	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399065	22399065	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:22399065G>A	uc001mqk.3	+	11	1941	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	510					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						AGACCCGGAGGAAACAAGTGA	0.408000														32			15		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345256	33345256	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:33345256G>A	uc002xav.3	-	7	3866	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	NCOA6_uc002xaw.3_Missense_Mutation_p.P432L|NCOA6_uc021wcd.1_Missense_Mutation_p.P432L|NCOA6_uc021wce.1_Missense_Mutation_p.P432L|NCOA6_uc021wcf.1_Missense_Mutation_p.P432L|NCOA6_uc010gew.1_Missense_Mutation_p.P389L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	432	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAAGGAGGAGGGTGAGGAGGC	0.582000														46			21		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:84608365G>A	uc004amn.3	+	3	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	994						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CTCACCTGTCGTCCAAGAAGG	0.502000														154			4		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12378304	12378304	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:12378304C>T	uc001atv.3	+	30	7465	c.7324C>T	c.(7324-7326)Ccc>Tcc	p.P2442S	VPS13D_uc001atw.3_Missense_Mutation_p.P2442S|VPS13D_uc001atx.3_Missense_Mutation_p.P1630S|VPS13D_uc001aty.1_Missense_Mutation_p.P180S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2442					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCTATAGTTCCCAAAACTGT	0.438000														71			17		0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201332081	201332081	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:201332081A>G	uc010zhc.2	+	9	1129	c.1006A>G	c.(1006-1008)Atg>Gtg	p.M336V	SPATS2L_uc002uvn.4_Missense_Mutation_p.M306V|SPATS2L_uc010fst.3_Missense_Mutation_p.M306V|SPATS2L_uc002uvo.4_Missense_Mutation_p.M246V|SPATS2L_uc002uvp.4_Missense_Mutation_p.M306V|SPATS2L_uc002uvq.4_Missense_Mutation_p.M237V|SPATS2L_uc002uvr.4_Missense_Mutation_p.M306V	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	306						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGCCAGTCAGATGGCAGAGAT	0.473000														42			17		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130174366	130174366	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:130174366G>T	uc010htj.1	+	36	7140	c.6646G>T	c.(6646-6648)Ggg>Tgg	p.G2216W	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.G255W|COL6A5_uc010htk.1_Missense_Mutation_p.G255W	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2216	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATTAAATTCTGGGAGAGAATC	0.353000														23			5		0.014758	0.0148122	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998063	27998063	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:27998063G>C	uc004dbx.1	-	0	1504	c.1389C>G	c.(1387-1389)ttC>ttG	p.F463L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	463										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						TCTCCCAGAAGAAGACGTGCC	0.473000														27			7		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797671	34797671	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:34797671G>A	uc010gfq.3	+	4	2590	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	EPB41L1_uc002xeu.3_Missense_Mutation_p.D570N|EPB41L1_uc010zvo.1_Missense_Mutation_p.D644N|EPB41L1_uc002xev.3_Missense_Mutation_p.D644N|EPB41L1_uc002xew.3_Missense_Mutation_p.D535N|EPB41L1_uc002xex.3_Intron|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Missense_Mutation_p.D570N|EPB41L1_uc002xfb.3_Missense_Mutation_p.D644N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	644					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCTGAGCTCGACCGGGACAA	0.612000														45			15		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056048	29056048	+	Missense_Mutation	SNP	C	T	T	rs141527621		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:29056048C>T	uc002kws.3	+	15	2934	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	DSG3_uc002kwt.3_Missense_Mutation_p.S224F	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	942					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S942F(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTTCTGGTTCCCTCGTGCAA	0.507000														73			26		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173156	173156	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:173156G>A	uc003jak.2	+	14	3177	c.3127G>A	c.(3127-3129)Gtc>Atc	p.V1043I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1043	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGCCACGACGTCTACCTGTA	0.582000														86			13		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100117249	100117249	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:100117249C>T	uc011lut.2	+	37	4778	c.3772C>T	c.(3772-3774)Cag>Tag	p.Q1258*	C9orf174_uc004axe.2_Nonsense_Mutation_p.Q1090*|C9orf174_uc011lus.2_Nonsense_Mutation_p.Q908*|C9orf174_uc004axg.2_Nonsense_Mutation_p.Q1119*|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1090						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						AGAGAAAATCCAGCGGTTGCT	0.418000														30			16		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843465	123843465	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:123843465G>T	uc001lfv.3	+	3	1810	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G484W|TACC2_uc010qtv.2_Missense_Mutation_p.G484W	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	484	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCATCCAGAAGGGGACCCTGG	0.597000														70			36		2.52449e-32	2.62048e-32	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104448921	104448921	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:104448921C>T	uc004bbp.2	-	1	1862	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E421K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	421					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTTCCACCTCCATGCAGTTC	0.468000														52			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140180991	140180991	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:140180991G>A	uc003lhf.2	+	0	209	c.209G>A	c.(208-210)aGa>aAa	p.R70K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R70K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	88	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R70R(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)			GCGTCCAAAAGACACGGGGAC	0.632000														146			5		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179419	55179420	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:55179419_55179420AG>GA	uc002qgp.3	+	11	1658_1659	c.1296_1297AG>GA	c.(1294-1299)gaaggg>gaGAgg	p.G433R	LILRB4_uc002qgq.3_Missense_Mutation_p.G432R|LILRB4_uc010ert.3_Missense_Mutation_p.G474R|LILRB4_uc010eru.3_Missense_Mutation_p.G463R	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.	433						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATCCCAGGAAGGGGCCTCTCC	0.609000														113			17		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50498508	50498508	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:50498508C>T	uc001rvz.3	+	1	226	c.193C>T	c.(193-195)Cca>Tca	p.P65S	GPD1_uc010smp.1_Missense_Mutation_p.P65S|GPD1_uc001rwa.3_Missense_Mutation_p.P65S	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	65					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CAAATACCTGCCAGGGCACAA	0.537000														47			27		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934488	44934488	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:44934488G>A	uc002oze.1	-	5	902	c.468C>T	c.(466-468)tcC>tcT	p.S156S	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.S150S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	156			S -> F (in dbSNP:rs2571174).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACTGTCCAGGGAATTCTCAA	0.478000														42			27		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:62296070A>G	uc001ntl.3	-	4	6119	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1940					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502000														271			6		0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478475	69478475	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:69478475A>T	uc004dxz.1	-	0	1180	c.1000T>A	c.(1000-1002)Tcc>Acc	p.S334T		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	334					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGTGCCAGGGAAGAGGCAGCC	0.607000														36			5		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					43			31		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597233	18597233	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:18597233G>C	uc002dfg.3	+	6	797	c.597G>C	c.(595-597)tgG>tgC	p.W199C	ABCC6P1_uc010vam.2_Missense_Mutation_p.W142C					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		AAAAGGAGTGGATGAGGAACC	0.557000														59			18		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065680	55065680	+	RNA	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:55065680G>A	uc021qjb.1	-	0		c.29C>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CTGGGTCTAGGAAGTAGTTCA	0.478000														41			8		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121642870	121642870	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:121642870C>T	uc003pyo.1	-	1	294	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	76					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		GTGCATTTTTCCATTTCTTCT	0.373000														96			13		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64791706	64791706	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:64791706G>T	uc002ann.3	+	0	88	c.88G>T	c.(88-90)Gga>Tga	p.G30*	ZNF609_uc010bgy.3_Nonsense_Mutation_p.G30*	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	30						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGGACATTGGAGTAGGGAA	0.532000														86			31		1.836e-18	1.89859e-18	1	1	0
WBP11	51729	broad.mit.edu	37	12	14941890	14941890	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:14941890G>A	uc001rci.3	-	10	1648	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	496	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ATCACCTGGAGGTGCAGGGGG	0.527000														10			3		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371897	48371897	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:48371897C>T	uc001rqu.3	-	43	3188	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E934K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1003	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTGCCGGGCTCACCCTGGAGG	0.647000														21			16		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346737	72346737	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:72346737C>T	uc002llw.2	+	0	3815	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ZNF407_uc010xfc.2_Silent_p.L1254L|ZNF407_uc010dqu.2_Silent_p.L1254L|ZNF407_uc002llu.2_Silent_p.L1253L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGTGACGCTCGATGGGGAGC	0.577000														37			5		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44148369	44148369	+	Silent	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:44148369C>T	uc003owt.1	+	15	1754	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	CAPN11_uc011dvn.2_Silent_p.F226F	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	572	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCAGGACTTCCTACATTTGT	0.597000														64			12		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22013870	22013870	+	Silent	SNP	C	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:22013870C>A	uc003xav.3	-	0	475	c.186G>T	c.(184-186)ctG>ctT	p.L62L	SFTPC_uc003xaw.4_5'Flank|LGI3_uc010ltu.3_Silent_p.L62L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	62	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCTCCGAGGGCAGGTTCCTGG	0.682000														17			8		5.4927e-09	5.61613e-09	1	1	0
ANO4	121601	broad.mit.edu	37	12	101490387	101490387	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:101490387G>A	uc010svm.1	+	18	2384	c.1812G>A	c.(1810-1812)ctG>ctA	p.L604L	ANO4_uc001thw.2_Silent_p.L569L|ANO4_uc001thx.2_Silent_p.L604L|ANO4_uc001thy.2_Silent_p.L124L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	604						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGTCAATCTGAACAGCTCCA	0.483000										HNSCC(74;0.22)				75			5		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33482341	33482341	+	Silent	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:33482341G>A	uc002hja.3	+	6	763	c.666G>A	c.(664-666)cgG>cgA	p.R222R	UNC45B_uc002hjb.3_Silent_p.R222R|UNC45B_uc002hjc.3_Silent_p.R222R|UNC45B_uc010cto.3_Silent_p.R222R	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	222					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGCAGTGCGGATAGACCGAA	0.562000														43			13		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512071	104512071	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:104512071G>A	uc004elz.1	+	5	1300	c.544_splice	c.e5-1	p.E182_splice		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	182	Ig-like C2-type 2.				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						TTATCTGCAGGAATGCAAGCC	0.328000														56			8		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:26212431G>T	uc022buc.1	+	0	468	c.468G>T	c.(466-468)tcG>tcT	p.S156S	MAGEB6_uc004dbr.3_Silent_p.S156S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	156	Ser-rich.							p.S156S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507000														71			4		0.00909568	0.00916281	1	1	0
A2M	2	broad.mit.edu	37	12	9243871	9243871	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:9243871G>A	uc001qvk.1	-	18	2508	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S	A2M_uc009zgk.1_Missense_Mutation_p.P649S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	799					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ACAGAGTAAGGCATTGTGAGC	0.512000														65			16		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65890259	65890259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:65890259C>T	uc002jgf.3	+	6	2582	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*	BPTF_uc002jge.3_Nonsense_Mutation_p.R967*|BPTF_uc010wqm.1_Nonsense_Mutation_p.R904*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	967	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCAATATGGCGAGAATCTTT	0.383000														119			21		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067702	175067702	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:175067702G>A	uc001gkl.1	+	8	2203	c.2090G>A	c.(2089-2091)aGc>aAc	p.S697N	TNN_uc010pmx.1_Missense_Mutation_p.S608N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	697	Fibronectin type-III 5.				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)		GACCAGGAGAGCAAGAAGGCC	0.582000														54			13		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215847	130215847	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:130215847G>A	uc004evz.3	+	1	553	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	ARHGAP36_uc004ewa.3_Missense_Mutation_p.E58K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E39K|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	70					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTTACCACGAACTCGTGGC	0.577000														107			47		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519757	113519757	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:113519757C>T	uc010ljy.1	-	3	1421	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	464					glycogen metabolic process	integral to membrane		p.G464R(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAAGGTTTCCTGCCATTAGT	0.408000														53			13		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228593	121228593	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:121228593C>T	uc003yox.3	+	13	1866	c.1601C>T	c.(1600-1602)gCt>gTt	p.A534V	COL14A1_uc003yoy.3_Missense_Mutation_p.A212V|COL14A1_uc010mde.1_Missense_Mutation_p.A212V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	534	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCCAAGTGGCTTTAAGTCCA	0.338000														42			6		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405651	241405651	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:241405651C>T	uc002vyw.4	+	8	1842	c.1621C>T	c.(1621-1623)Ctc>Ttc	p.L541F		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	541					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCGACCTTCCTCCTGCCCCT	0.677000														43			23		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120381870	120381870	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:120381870delT	uc010oxk.2	-	4	1396	c.775delA	c.(775-777)attfs	p.I259fs		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	259	NBPF 1.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		ACAACCAGAATTGAGTTGACT	0.423													---	110	---	---	16	---					
BMP2K	55589	broad.mit.edu	37	4	79831985	79831987	+	In_Frame_Del	DEL	GAA	-	-			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:79831985_79831987delGAA	uc003hlk.3	+	15	2450_2452	c.2284_2286delGAA	c.(2284-2286)gaadel	p.E763del	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	763						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GCAAGATGATGAAGAAGTTCTTC	0.429													---	29	---	---	16	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:58025102_58025103insC	uc001spg.1	-	2	695_696	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		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)			GGAGGGGGAGGCCCCCCCCACT	0.589													---	157	---	---	7	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2569346	2569347	+	Frame_Shift_Ins	INS	-	A	A	rs113994199		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:2569346_2569347insA	uc002fuw.4	+	3	722_723	c.154_155insA	c.(154-156)gaafs	p.E52fs	PAFAH1B1_uc010ckb.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	52	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGTCTTTTGGAAAAAAAATGG	0.243													---	4	---	---	2	---					
KLHDC7B	113730	broad.mit.edu	37	22	50987322	50987323	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:50987322_50987323insA	uc003bmi.3	+	0	861_862	c.727_728insA	c.(727-729)tacfs	p.Y243fs		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	243										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGAGACCTACGCGCTGATG	0.728													---	7	---	---	8	---