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
EGFL6	25975	broad.mit.edu	37	X	13636123	13636123	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:13636123A>T	uc004cvj.3	+	7	1340	c.1053A>T	c.(1051-1053)aaA>aaT	p.K351N	EGFL6_uc004cvi.3_Missense_Mutation_p.K351N|EGFL6_uc011mik.1_Missense_Mutation_p.K252N	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	351					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GAGAAGAGAAAGCCCTGAAGA	0.383000														42			15		0	0	0.003163	0	0
MPP3	4356	broad.mit.edu	37	17	41901338	41901338	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:41901338G>A	uc002ieh.3	-	7	981	c.720C>T	c.(718-720)atC>atT	p.I240I	MPP3_uc002iei.4_Silent_p.I215I|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.I215I|MPP3_uc010wik.2_Silent_p.I240I	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	215	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGGTGGCTGGGATGATTTTTA	0.557000														11			86		0	0	0.003610	0	0
ALAS2	212	broad.mit.edu	37	X	55047648	55047648	+	Missense_Mutation	SNP	C	T	T	rs137852308		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55047648C>T	uc004dua.4	-	4	613	c.475G>A	c.(475-477)Gat>Aat	p.D159N	ALAS2_uc004dub.4_Missense_Mutation_p.D146N|ALAS2_uc004dud.4_Missense_Mutation_p.D122N	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	159			D -> Y (in XLSA).		cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGTGTGATCCTGTTTCTTC	0.453000														23			36		0	0	0.006230	0	0
C1orf177	163747	broad.mit.edu	37	1	55282787	55282787	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:55282787G>C	uc001cyb.4	+	8	1230	c.1176G>C	c.(1174-1176)atG>atC	p.M392I	C1orf177_uc001cya.4_Missense_Mutation_p.M392I	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	392										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCCGGGACATGCTCATGCAGT	0.602000														23			12		0	0	0.000978	0	0
MAP1B	4131	broad.mit.edu	37	5	71496137	71496137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:71496137G>A	uc003kbw.4	+	4	7196	c.6955G>A	c.(6955-6957)Gag>Aag	p.E2319K	MAP1B_uc010iyw.1_Missense_Mutation_p.E2336K|MAP1B_uc010iyx.1_Missense_Mutation_p.E2193K|MAP1B_uc010iyy.1_Missense_Mutation_p.E2193K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2319						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAGACAAGGAGACCAAGAA	0.517000														28			25		0	0	0.002780	0	0
OBSCN	84033	broad.mit.edu	37	1	228433237	228433237	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228433237A>G	uc009xez.1	+	11	3649	c.3605A>G	c.(3604-3606)gAc>gGc	p.D1202G	OBSCN_uc001hsn.3_Missense_Mutation_p.D1202G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1202	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTACAAGGACGGGAAGAAG	0.602000														30			13		0	0	0.001368	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400917	11400917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:11400917G>A	uc003gmq.3	-	1	1036	c.713C>T	c.(712-714)tCg>tTg	p.S238L	HS3ST1_uc021xmg.1_Missense_Mutation_p.S238L	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	238						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GATCTGCGGCGACAGCTTTAG	0.562000														16			15		0	0	0.004007	0	0
ZNF445	353274	broad.mit.edu	37	3	44492971	44492971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:44492971G>A	uc003cnf.2	-	3	781	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	ZNF445_uc011azv.1_Missense_Mutation_p.P145S|ZNF445_uc011azw.1_Missense_Mutation_p.P145S	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	145					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCAGGGCCCGGGTCCTGGCAA	0.537000														15			33		0	0	0.002096	0	0
SHROOM2	357	broad.mit.edu	37	X	9862717	9862717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:9862717G>A	uc004csu.1	+	3	859	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	257					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCGCAGGCGACCCTCAGGG	0.667000														7			9		0	0	0.004482	0	0
SIRPG	55423	broad.mit.edu	37	20	1638346	1638346	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:1638346G>A	uc002wfm.1	-	0	80	c.15C>T	c.(13-15)gcC>gcT	p.A5A	SIRPG_uc002wfn.1_Silent_p.A5A|SIRPG_uc002wfo.1_Silent_p.A5A	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	5					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGGCCAGGAGGCTGGGACAG	0.552000														52			39		0	0	0.007835	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156988	26156989	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:26156988_26156989GG>AA	uc003ngq.3	+	0	430_431	c.370_371GG>AA	c.(370-372)ggc>AAc	p.G124N	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	124					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TAAAAAGGCAGGCGCGGCCAAG	0.639000														4			18		0	0	0.004672	0	0
KALRN	8997	broad.mit.edu	37	3	124210176	124210176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124210176G>A	uc003ehg.3	+	30	4715	c.4588G>A	c.(4588-4590)Gag>Aag	p.E1530K	KALRN_uc010hrv.1_Missense_Mutation_p.E1521K|KALRN_uc003ehf.1_Missense_Mutation_p.E1530K|KALRN_uc011bjy.1_Missense_Mutation_p.E1521K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1530	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACAGACCTCAGAGCTGGGTGT	0.567000														46			6		0	0	0.001168	0	0
MGST2	4258	broad.mit.edu	37	4	140599715	140599715	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:140599715T>C	uc003ihy.3	+	1	329	c.77T>C	c.(76-78)gTt>gCt	p.V26A	MGST2_uc021xsf.1_Missense_Mutation_p.V26A|MGST2_uc010ioi.1_Intron|MGST2_uc021xse.1_Missense_Mutation_p.V26A	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	26					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	GCTTTGCAAGTTGGAAAGGCA	0.403000														2			9		0	0	0.004482	0	0
SLC28A1	9154	broad.mit.edu	37	15	85486726	85486726	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:85486726C>T	uc002blg.3	+	15	1834	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	SLC28A1_uc010bnb.3_Silent_p.F544F|SLC28A1_uc010upe.2_Silent_p.F378F|SLC28A1_uc010upf.1_Silent_p.F544F|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	544					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGCCAATTTCAGCTCCATTG	0.537000														55			14		0	0	0.004007	0	0
ESRRG	2104	broad.mit.edu	37	1	216850620	216850620	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:216850620G>A	uc001hkw.2	-	1	443	c.270C>T	c.(268-270)atC>atT	p.I90I	ESRRG_uc009xdp.1_Silent_p.I67I|ESRRG_uc001hky.1_Silent_p.I67I|ESRRG_uc001hkz.2_Silent_p.I67I|ESRRG_uc010puc.2_Silent_p.I67I|ESRRG_uc001hla.2_Silent_p.I67I|ESRRG_uc001hlb.2_Silent_p.I67I|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Silent_p.I67I|ESRRG_uc001hld.1_Silent_p.I67I|ESRRG_uc001hkx.2_Silent_p.I95I|ESRRG_uc009xdo.2_Silent_p.I67I|ESRRG_uc001hle.2_Silent_p.I67I|ESRRG_uc021piz.1_Silent_p.I67I	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	90					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TACCTCCCAGGATAGGAGCAG	0.537000														25			39		0	0	0.005524	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357683	63357683	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:63357683G>A	uc001nxh.2	-	2	699	c.276C>T	c.(274-276)atC>atT	p.I92I	PLA2G16_uc001nxi.2_Silent_p.I104I|PLA2G16_uc009you.1_Silent_p.I92I	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	92					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						CCCGCTGGATGATTTTGCTGC	0.552000														25			15		0	0	0.004007	0	0
CYP2C19	1557	broad.mit.edu	37	10	96448009	96448009	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:96448009G>A	uc001kjv.4	+	2	785	c.459G>A	c.(457-459)gtG>gtA	p.V153V	CYP2C19_uc001kjw.4_Silent_p.V153V|CYP2C19_uc009xus.1_Silent_p.V18V|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	153					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTGCCTTGTGGAGGAGTTGA	0.408000														15			16		0	0	0.007413	0	0
INTS1	26173	broad.mit.edu	37	7	1542610	1542610	+	Silent	SNP	C	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:1542610C>A	uc003skn.2	-	2	377	c.276G>T	c.(274-276)ctG>ctT	p.L92L	INTS1_uc003skq.2_Silent_p.L92L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	92					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGCCTCAGCCAGGCGCCCCA	0.612000														50			101		1.11883e-47	1.47694e-47	0.003610	1	0
NXF2	56001	broad.mit.edu	37	X	101576780	101576780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:101576780C>T	uc004eiv.4	+	26	3148	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NXF2_uc022cau.1_Missense_Mutation_p.P426S|NXF2_uc004eiw.4_Missense_Mutation_p.P338S|NXF2_uc004eix.4_Missense_Mutation_p.P426S	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	426	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						CTTGGCTATTCCCTTCGACCC	0.577000														93			4		0	0	0.000673	0	0
MPZ	4359	broad.mit.edu	37	1	161277067	161277067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:161277067C>T	uc001gaf.4	-	1	282	c.215G>A	c.(214-216)gGg>gAg	p.G72E		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	72	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTCTGCCCCCTTCGGGCTG	0.552000														22			5		0	0	0.001168	0	0
SHANK1	50944	broad.mit.edu	37	19	51170824	51170824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51170824C>T	uc002psx.1	-	21	4412	c.4393G>A	c.(4393-4395)Gag>Aag	p.E1465K	SHANK1_uc002psw.1_Missense_Mutation_p.E849K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1465					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCGGGGGCTCCGTCCCCAGC	0.751000														9			6		0	0	0.001984	0	0
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:123813765G>A	uc010sab.2	-	0	781	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517000														46			18		0	0	0.001216	0	0
GABPB1	2553	broad.mit.edu	37	15	50596163	50596163	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:50596163C>T	uc001zyb.3	-	3	700	c.276_splice	c.e3+1	p.K92_splice	GABPB1_uc001zya.3_Splice_Site_p.K92_splice|GABPB1_uc010ufg.2_Splice_Site_p.K16_splice|GABPB1_uc001zyd.3_Splice_Site_p.K92_splice|GABPB1_uc001zye.3_Splice_Site_p.K92_splice|GABPB1_uc001zyf.3_Splice_Site_p.K92_splice|GABPB1_uc001zyc.3_Splice_Site_p.K92_splice	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	92					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GAACACATACCTTAAGTAAAA	0.398000														57			10		0	0	0.000978	0	0
IMPG1	3617	broad.mit.edu	37	6	76640707	76640707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:76640707C>T	uc003pik.1	-	14	2336	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	736					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCTCGCATTCCTTTGTGCCA	0.562000														8			53		0	0	0.003610	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337098	162337098	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:162337098C>T	uc001gbv.2	+	9	1749	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	NOS1AP_uc001gbw.2_Silent_p.L449L|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Silent_p.L159L	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	454					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GTCTGGAGCTCATCAAGTTCC	0.677000														21			16		0	0	0.003163	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412625	20412625	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:20412625G>A	uc001bcx.3	+	7	1046	c.183G>A	c.(181-183)gaG>gaA	p.E61E	PLA2G5_uc001bcy.3_Silent_p.E30E	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	30					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CAATGATCGAGAAGGTGACAG	0.597000														37			11		0	0	0.000978	0	0
CLK1	1195	broad.mit.edu	37	2	201722764	201722764	+	Silent	SNP	G	A	A	rs140826426	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:201722764G>A	uc002uwe.2	-	5	778	c.597C>T	c.(595-597)taC>taT	p.Y199Y	CLK1_uc010zhi.1_Silent_p.Y241Y|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Silent_p.Y48Y	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	199	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378000														40			40		0	0	0.004878	0	0
CXorf22	170063	broad.mit.edu	37	X	35984828	35984828	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:35984828C>T	uc004ddj.3	+	8	1623	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	519										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAACAGCATCTGTAAAGCTT	0.363000														24			17		0	0	0.001216	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242443	18242443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:18242443G>A	uc001ipo.2	+	1	511	c.238G>A	c.(238-240)Gga>Aga	p.G80R	SLC39A12_uc001ipn.2_Missense_Mutation_p.G80R|SLC39A12_uc001ipp.2_Missense_Mutation_p.G80R|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	80					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAGGAGAAACGGAATGCAAGG	0.468000														10			9		0	0	0.006214	0	0
COL4A6	1288	broad.mit.edu	37	X	107413860	107413860	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:107413860G>T	uc004enw.4	-	34	3578	c.3475C>A	c.(3475-3477)Ccc>Acc	p.P1159T	COL4A6_uc004env.4_Missense_Mutation_p.P1158T|COL4A6_uc011msn.2_Missense_Mutation_p.P1158T|COL4A6_uc010npk.3_Missense_Mutation_p.P1158T	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1159	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1158H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATTAATCCGGGGGATCCTAGA	0.488000									Alport syndrome with Diffuse Leiomyomatosis					89			69		2.6465e-34	3.4919e-34	0.003610	1	0
ABCB11	8647	broad.mit.edu	37	2	169787294	169787294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:169787294C>T	uc002ueo.1	-	24	3418	c.3292G>A	c.(3292-3294)Ggt>Agt	p.G1098S	ABCB11_uc010zda.1_Missense_Mutation_p.G540S|ABCB11_uc010zdb.1_Missense_Mutation_p.G574S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1098	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACTGAGAGACCATTCAGAACT	0.453000														15			12		0	0	0.000978	0	0
SCN10A	6336	broad.mit.edu	37	3	38770130	38770130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38770130C>T	uc003ciq.3	-	14	2543	c.2543G>A	c.(2542-2544)gGa>gAa	p.G848E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	848					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AATCCACTCTCCACAGAGGAT	0.512000														15			25		0	0	0.003330	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937700	15937700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:15937700C>T	uc003gom.3	-	2	851	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	FGFBP1_uc021xml.1_Missense_Mutation_p.V186M	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	186					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GTCTGGGTCACTGCTAGGCTA	0.552000														33			40		0	0	0.001951	0	0
TMEM51	55092	broad.mit.edu	37	1	15546025	15546025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:15546025C>T	uc001avw.4	+	3	1067	c.548C>T	c.(547-549)cCt>cTt	p.P183L	TMEM51_uc010obk.2_Missense_Mutation_p.P183L|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Missense_Mutation_p.P183L|TMEM51_uc001avx.3_Missense_Mutation_p.P183L	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	183						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GAGGCCAGCCCTGGGAACCCC	0.552000														46			17		0	0	0.001216	0	0
OSMR	9180	broad.mit.edu	37	5	38904469	38904469	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:38904469C>T	uc003jln.2	+	8	1551	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	383	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGTTTCCATCAAGGTGAACG	0.433000														23			19		0	0	0.006122	0	0
RCAN2	10231	broad.mit.edu	37	2	174074498	174074498	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:174074498C>T	uc002uhz.3	+	9	986	c.786C>T	c.(784-786)tcC>tcT	p.S262S	RCAN2_uc002uhx.3_Silent_p.S262S|RCAN2_uc002uhy.3_Silent_p.S262S|RCAN2_uc010zei.2_Silent_p.S161S|MLK7-AS1_uc002uib.3_Non-coding_Transcript	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCCTGGAGTCCATGTCAAATG	0.468000														27			16		0	0	0.003163	0	0
TTC16	158248	broad.mit.edu	37	9	130480033	130480033	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:130480033C>T	uc004brq.1	+	3	475	c.408C>T	c.(406-408)acC>acT	p.T136T	PTRH1_uc004brm.3_5'Flank|PTRH1_uc004bro.3_5'Flank|PTRH1_uc010mxm.3_5'Flank|PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Silent_p.T123T|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	136							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCGCCTCACCTTTGTGCTCT	0.637000														13			31		0	0	0.004289	0	0
FAM179A	165186	broad.mit.edu	37	2	29247148	29247148	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29247148C>T	uc010ezl.3	+	12	2112	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	FAM179A_uc010ymm.2_Silent_p.F532F|FAM179A_uc002rmr.4_Silent_p.F114F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	587							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAACGAGTTCATCCAGAGAG	0.602000														8			8		0	0	0.006214	0	0
VSIG1	340547	broad.mit.edu	37	X	107316000	107316000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:107316000C>T	uc011msk.2	+	4	775	c.614C>T	c.(613-615)tCc>tTc	p.S205F	VSIG1_uc004eno.3_Missense_Mutation_p.S169F	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	169	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGAACACCTTCCCCTGTGTAC	0.483000														64			20		0	0	0.001882	0	0
TPTE2P1	646405	broad.mit.edu	37	13	25525607	25525607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:25525607C>T	uc010tdh.2	-	1	284	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TPTE2P1_uc001upx.4_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 (TPTE2P1), non-coding RNA.																		TTATCCAATTCATTTCTTGGT	0.363000														3			3		0	0	0.000248	0	0
STAU2	27067	broad.mit.edu	37	8	74464404	74464404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:74464404G>A	uc003xzm.3	-	12	1714	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	STAU2_uc011lfh.2_Missense_Mutation_p.S354L|STAU2_uc003xzn.3_Missense_Mutation_p.S426L|STAU2_uc011lfg.2_Missense_Mutation_p.S286L|STAU2_uc003xzo.3_Missense_Mutation_p.S458L|STAU2_uc003xzq.3_Missense_Mutation_p.S238L|STAU2_uc003xzp.3_Missense_Mutation_p.S426L|STAU2_uc011lfi.2_Missense_Mutation_p.S420L|STAU2_uc010lzk.3_Missense_Mutation_p.S426L|STAU2_uc010lzl.1_Missense_Mutation_p.S286L	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	458	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGAACTATTCGATGTGGGAGA	0.443000														45			51		0	0	0.003610	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677313	37677313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:37677313G>A	uc002ofq.3	-	4	1378	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.H190Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTCTCTGA	0.418000														47			18		0	0	0.006122	0	0
GRM3	2913	broad.mit.edu	37	7	86479781	86479781	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:86479781A>G	uc003uid.3	+	4	3586	c.2487A>G	c.(2485-2487)caA>caG	p.Q829Q	GRM3_uc010lef.3_Missense_Mutation_p.T472A|GRM3_uc010leg.3_Silent_p.Q701Q|GRM3_uc010leh.3_Silent_p.Q421Q	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	829					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTGTTTCAACCCCAGAAGA	0.493000														27			7		0	0	0.001984	0	0
COL9A1	1297	broad.mit.edu	37	6	70944604	70944604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:70944604C>T	uc003pfg.4	-	33	2311	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	COL9A1_uc003pfe.4_Missense_Mutation_p.G267R|COL9A1_uc003pff.4_Missense_Mutation_p.G475R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	718	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCCGACTTCCCTCAGGCCCT	0.592000														4			23		0	0	0.002780	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820742	35820742	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:35820742C>T	uc010ngt.1	+	1	708	c.429C>T	c.(427-429)atC>atT	p.I143I	MAGEB16_uc022bus.1_Silent_p.I143I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	143	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAAGATTATCATCAAAGATG	0.448000														43			12		0	0	0.000978	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812803	45812803	+	Missense_Mutation	SNP	G	A	A	rs141997139		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:45812803G>A	uc011bai.2	-	5	965	c.841C>T	c.(841-843)Ctc>Ttc	p.L281F	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.L244F	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	281					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGTTGATGAGGGACACGATG	0.502000														75			16		0	0	0.006122	0	0
GPR77	27202	broad.mit.edu	37	19	47844691	47844691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:47844691C>T	uc002pgk.1	+	1	706	c.635C>T	c.(634-636)cCc>cTc	p.P212L	GPR77_uc010ela.1_Missense_Mutation_p.P212L|GPR77_uc021uwn.1_Missense_Mutation_p.P212L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	212					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		TTCCTGGGGCCCCTGGTGGCC	0.662000														34			46		0	0	0.003214	0	0
NMS	129521	broad.mit.edu	37	2	101086975	101086975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:101086975C>T	uc002tan.1	+	0	32	c.25C>T	c.(25-27)Cct>Tct	p.P9S		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	9					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TCCCCAGTTCCCTCTCATCTT	0.542000														78			46		0	0	0.003610	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264281	25264281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	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														166			36		0	0	0.006230	0	0
FLJ43860	389690	broad.mit.edu	37	8	142487552	142487552	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:142487552G>A	uc003ywi.2	-	11	1477	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	466							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCGTGCACAGAGTGTCCTGG	0.667000														24			39		0	0	0.007835	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93150150	93150150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:93150150G>A	uc001tcj.2	+	7	913	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	228	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTCTATGAAGGAAAATTAACT	0.383000														7			28		0	0	0.001786	0	0
DPYD	1806	broad.mit.edu	37	1	97770877	97770877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:97770877G>A	uc001drv.3	-	17	2374	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	746					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTGCCATCAGATTTTAATCC	0.478000														21			4		0	0	0.000248	0	0
FGFR2	2263	broad.mit.edu	37	10	123245036	123245036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:123245036C>T	uc021pzz.1	-	15	2715	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	FGFR2_uc021pzv.1_Missense_Mutation_p.G578R|FGFR2_uc021pzw.1_Missense_Mutation_p.G575R|FGFR2_uc021pzx.1_Missense_Mutation_p.G601R|FGFR2_uc021pzy.1_Missense_Mutation_p.G691R|FGFR2_uc010qtl.2_Missense_Mutation_p.G574R|FGFR2_uc010qtm.2_Missense_Mutation_p.G573R|FGFR2_uc021qaa.1_Missense_Mutation_p.G691R|FGFR2_uc021qab.1_Missense_Mutation_p.G602R|FGFR2_uc021qac.1_Missense_Mutation_p.G619R|FGFR2_uc001lfg.4_Missense_Mutation_p.G298R|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	690	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ATTAACACCCCGAAGGACCAG	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					21			8		0	0	0.004482	0	0
RASGRF2	5924	broad.mit.edu	37	5	80503116	80503116	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:80503116G>C	uc003kha.2	+	20	3069	c.3019G>C	c.(3019-3021)Gca>Cca	p.A1007P	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1007	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.L1006P(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CATGGAGCTGGCAGAACAGAT	0.572000														33			9		0	0	0.006214	0	0
ALS2	57679	broad.mit.edu	37	2	202569290	202569290	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:202569290G>A	uc002uyo.3	-	31	5081	c.4725C>T	c.(4723-4725)atC>atT	p.I1575I	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1575	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAGTCTGCTGGATGACCTTAA	0.408000														23			15		0	0	0.006122	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432760	140432760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140432760G>A	uc003lik.1	+	0	1782	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	569					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N568K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCAGAACGGCACCTTGCC	0.522000														55			13		0	0	0.001368	0	0
BRPF1	7862	broad.mit.edu	37	3	9785916	9785916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:9785916C>T	uc003bse.3	+	8	3025	c.2626C>T	c.(2626-2628)Ccc>Tcc	p.P876S	BRPF1_uc003bsf.3_Missense_Mutation_p.P882S|BRPF1_uc003bsg.3_Missense_Mutation_p.P875S|BRPF1_uc011ati.2_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	876	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGGCCTGGGTCCCAACATGTC	0.562000														151			39		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50866129	50866129	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:50866129G>A	uc002lfe.2	+	14	2827	c.2211G>A	c.(2209-2211)caG>caA	p.Q737Q	DCC_uc010xdr.1_Silent_p.Q585Q|DCC_uc010dpf.2_Silent_p.Q392Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	737	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAGGCCCCAGACTAACTGCA	0.463000														3			24		0	0	0.004656	0	0
PANX1	24145	broad.mit.edu	37	11	93913320	93913321	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:93913320_93913321CC>TT	uc001per.3	+	3	1483_1484	c.1098_1099CC>TT	c.(1096-1101)ctcctg>ctTTtg	p.366_367LL>LL	PANX1_uc001peq.3_Silent_p.366_367LL>LL	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	366					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGCTACTCCTGACAAACCT	0.470000														14			8		0	0	0.004672	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882512	78882512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:78882512C>T	uc002bdy.3	+	4	979	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	260					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						CTTATAATACCCTGTATTGGG	0.393000														41			62		0	0	0.003610	0	0
OR6K6	128371	broad.mit.edu	37	1	158724705	158724705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158724705C>T	uc001fsw.1	+	0	100	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CAGTGGGAATCAGACAATGGT	0.433000														53			13		0	0	0.001855	0	0
EPHA5	2044	broad.mit.edu	37	4	66361136	66361136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:66361136C>T	uc003hcy.3	-	3	1229	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	EPHA5_uc003hcx.3_Missense_Mutation_p.E277K|EPHA5_uc003hcz.3_Missense_Mutation_p.E346K|EPHA5_uc011cah.2_Missense_Mutation_p.E346K|EPHA5_uc011cai.2_Missense_Mutation_p.E346K|EPHA5_uc003hda.2_Missense_Mutation_p.E346K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	346	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGATCAGACTCTCTCCTGAAA	0.468000										TSP Lung(17;0.13)				71			23		0	0	0.003954	0	0
MUC4	4585	broad.mit.edu	37	3	195515992	195515992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:195515992C>T	uc021xjp.1	-	1	2615	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G702E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	825	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGATATTCCTTCGCTTCC	0.582000														66			11		0	0	0.002450	0	0
C19orf75	284369	broad.mit.edu	37	19	51771841	51771841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51771841G>A	uc002pwb.1	+	5	965	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Missense_Mutation_p.R101Q	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	195						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CAAGATAAACGAGCCAGCTAA	0.418000														20			23		0	0	0.004656	0	0
PORCN	64840	broad.mit.edu	37	X	48372724	48372724	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:48372724C>T	uc010nie.1	+	8	974	c.816C>T	c.(814-816)ggC>ggT	p.G272G	PORCN_uc004djr.1_Silent_p.G267G|PORCN_uc004djs.1_Silent_p.G261G|PORCN_uc011mlx.1_Silent_p.G190G|PORCN_uc004dju.1_Silent_p.G130G|PORCN_uc004djv.1_Silent_p.G272G|PORCN_uc004djw.1_Silent_p.G266G	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	272					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.A271fs*45(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGGGGCTGGCTTTACCGAGG	0.637000														23			6		0	0	0.001168	0	0
C14orf39	317761	broad.mit.edu	37	14	60923639	60923639	+	Missense_Mutation	SNP	C	T	T	rs147627198		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:60923639C>T	uc001xez.4	-	14	1464	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	C14orf39_uc010apo.3_Missense_Mutation_p.E163K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	452								p.E452K(2)		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)		TCCTACATTTCGAACGGGGGG	0.318000														54			23		0	0	0.004656	0	0
NPHS1	4868	broad.mit.edu	37	19	36334409	36334409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36334409G>A	uc002oby.3	-	16	2455	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	767	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.N766Y(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGAGGATGGGATTGGCATCG	0.572000														111			26		0	0	0.003954	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528539	77528539	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:77528539G>A	uc022bzh.1	-	0	705	c.705C>T	c.(703-705)atC>atT	p.I235I	CYSLTR1_uc004edb.3_Silent_p.I235I|CYSLTR1_uc010nma.3_Silent_p.I235I|CYSLTR1_uc010nmb.3_Silent_p.I235I	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	235					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TCACGACCATGATCATTCCTA	0.318000														18			7		0	0	0.001984	0	0
SRRM4	84530	broad.mit.edu	37	12	119540113	119540113	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:119540113C>T	uc001txa.2	+	1	592	c.204C>T	c.(202-204)gcC>gcT	p.A68A		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	68					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCATCTGGCCACCGAGCCCT	0.542000														5			13		0	0	0.002450	0	0
FAT4	79633	broad.mit.edu	37	4	126411568	126411568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126411568G>A	uc003ifj.4	+	16	13591	c.13591G>A	c.(13591-13593)Ggg>Agg	p.G4531R	FAT4_uc011cgp.2_Missense_Mutation_p.G2772R|FAT4_uc003ifi.1_Missense_Mutation_p.G2008R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4531					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGTGCAGGGGGAAGAAGGC	0.532000														31			11		0	0	0.000673	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892118	2892118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:2892118C>T	uc002kln.3	+	3	2152	c.1993C>T	c.(1993-1995)Cat>Tat	p.H665Y		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	665					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.H665H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCCCGTGGCTCATTGCTGCAG	0.592000														11			26		0	0	0.004656	0	0
SI	6476	broad.mit.edu	37	3	164727096	164727096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:164727096C>T	uc003fei.3	-	34	4213	c.4150G>A	c.(4150-4152)Gaa>Aaa	p.E1384K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1384	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATCTTTTCATTGTAAAAG	0.373000										HNSCC(35;0.089)				26			18		0	0	0.001216	0	0
PRRG3	79057	broad.mit.edu	37	X	150869255	150869255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:150869255G>A	uc022cgt.1	+	3	495	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	PRRG3_uc004few.2_Missense_Mutation_p.R149Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	149						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGCACCGAGAGGCAGCG	0.677000														23			25		0	0	0.003954	0	0
GNAI2	2771	broad.mit.edu	37	3	50293704	50293705	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:50293704_50293705CC>TT	uc003cyq.1	+	4	666_667	c.545_546CC>TT	c.(544-546)acc>aTT	p.T182I	GNAI2_uc003cyo.1_Missense_Mutation_p.T166I|GNAI2_uc003cyp.1_Missense_Mutation_p.T166I|GNAI2_uc010hlg.1_Missense_Mutation_p.T101I|GNAI2_uc011bdn.2_Missense_Mutation_p.T145I|GNAI2_uc003cyr.1_Missense_Mutation_p.T101I	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	182					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CGCGTAAAGACCACGGGGATCG	0.594000														19			27		0	0	0.004672	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170733	167170733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:167170733C>T	uc003fes.1	-	5	1056	c.985G>A	c.(985-987)Gga>Aga	p.G329R	SERPINI2_uc003fer.1_Missense_Mutation_p.G319R|SERPINI2_uc003fet.1_Missense_Mutation_p.G319R	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	319					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCTGTTATTCCAGAAAGGTCG	0.299000														5			14		0	0	0.003163	0	0
WDR63	126820	broad.mit.edu	37	1	85573801	85573801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:85573801C>T	uc001dkt.3	+	14	1830	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	WDR63_uc009wcl.3_Missense_Mutation_p.P508S	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	547										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTGAAATTCCTTTTGATGT	0.358000														52			7		0	0	0.003080	0	0
CFHR5	81494	broad.mit.edu	37	1	196973938	196973938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196973938G>A	uc001gts.4	+	8	1606	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	493	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAACATGCAGAAATAAACAG	0.393000														13			20		0	0	0.001216	0	0
MGAM	8972	broad.mit.edu	37	7	141754605	141754606	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141754605_141754606CC>TT	uc003vwy.3	+	26	3265_3266	c.3211_3212CC>TT	c.(3211-3213)ccc>TTc	p.P1071F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1071	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGAACATACCCAGCATGCCA	0.436000														47			60		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82585122	82585122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82585122C>T	uc003uhx.2	-	4	5436	c.5147G>A	c.(5146-5148)gGa>gAa	p.G1716E	PCLO_uc003uhv.2_Missense_Mutation_p.G1716E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1647					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTCGAAGATCCCTCTCCCCT	0.453000														44			12		0	0	0.000978	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206597	142206597	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142206597G>A	uc003vyj.2	-	1	305	c.258C>T	c.(256-258)tcC>tcT	p.S86S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCTTGGATCTGGAGACAACAT	0.517000														44			67		0	0	0.003610	0	0
CASC5	57082	broad.mit.edu	37	15	40942524	40942524	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:40942524G>A	uc010bbs.1	+	18	6359	c.6198G>A	c.(6196-6198)gaG>gaA	p.E2066E	CASC5_uc010bbt.1_Silent_p.E2040E	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2066	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGGATGAAGAGAAAAACAATC	0.328000														39			58		0	0	0.003610	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560173	19560173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:19560173G>A	uc004czm.3	-	15	2078	c.1762C>T	c.(1762-1764)Ccg>Tcg	p.P588S	SH3KBP1_uc011mje.2_Missense_Mutation_p.P327S|SH3KBP1_uc011mjf.2_Missense_Mutation_p.P350S|SH3KBP1_uc004czl.3_Missense_Mutation_p.P551S|SH3KBP1_uc010nfm.3_Missense_Mutation_p.P33S	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	588					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AACAGAGACGGGGAGTTGGCT	0.657000														48			16		0	0	0.006122	0	0
HEATR5A	25938	broad.mit.edu	37	14	31814460	31814460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:31814460G>A	uc001wrf.4	-	19	3076	c.2891C>T	c.(2890-2892)tCa>tTa	p.S964L	HEATR5A_uc010ami.3_Missense_Mutation_p.S569L|HEATR5A_uc001wrg.1_Missense_Mutation_p.S553L|HEATR5A_uc010tpk.1_Missense_Mutation_p.S964L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	958							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATGATCAATGATAGAGAATG	0.333000														33			10		0	0	0.000673	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601288	138601288	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:138601288C>T	uc003qhu.3	+	13	2619	c.2448C>T	c.(2446-2448)atC>atT	p.I816I		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	816					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTCCCCTCATCACAATGCTGA	0.562000														1			27		0	0	0.006320	0	0
TLL1	7092	broad.mit.edu	37	4	166929121	166929121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:166929121G>A	uc003irh.2	+	6	1485	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TLL1_uc021xud.1_Missense_Mutation_p.E280K|TLL1_uc011cjn.2_Missense_Mutation_p.E280K|TLL1_uc011cjo.2_Missense_Mutation_p.E104K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	280	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGAAGATGGAGCCTGGAGA	0.413000														19			6		0	0	0.001984	0	0
CALB2	794	broad.mit.edu	37	16	71418266	71418266	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:71418266C>T	uc002faa.4	+	7	638	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CALB2_uc010vme.2_Intron|CALB2_uc002fac.4_Intron	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	186	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGGAAAACTTCCTGCTTAAAT	0.562000														18			19		0	0	0.002299	0	0
ZNF662	389114	broad.mit.edu	37	3	42956688	42956688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:42956688C>T	uc003cmk.2	+	3	1387	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	ZNF662_uc003cmi.2_Missense_Mutation_p.L375F|ZNF662_uc003cmj.2_Missense_Mutation_p.L267F	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGGCACATCTTATTCGACA	0.448000														38			8		0	0	0.003080	0	0
OR5M3	219482	broad.mit.edu	37	11	56237466	56237466	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:56237466T>A	uc010rjk.2	-	0	549	c.508A>T	c.(508-510)Att>Ttt	p.I170F	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTGATCTCAATTTTTCCACAG	0.413000														23			9		0	0	0.006214	0	0
C6	729	broad.mit.edu	37	5	41176647	41176647	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41176647G>A	uc003jmk.2	-	7	1308	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	C6_uc003jml.1_Silent_p.F366F|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	366	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAGAGGTGAAGTAATGAG	0.423000														16			17		0	0	0.001216	0	0
SYT17	51760	broad.mit.edu	37	16	19195419	19195419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19195419G>A	uc002dfw.3	+	4	1232	c.901G>A	c.(901-903)Gac>Aac	p.D301N	SYT17_uc002dfx.3_Missense_Mutation_p.D240N|SYT17_uc002dfy.3_Missense_Mutation_p.D297N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	301						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GTGTGAAGTTGACCTGGTCAA	0.532000														157			82		0	0	0.003610	0	0
MECOM	2122	broad.mit.edu	37	3	169099133	169099133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:169099133C>T	uc011bpj.1	-	1	620	c.217G>A	c.(217-219)Gat>Aat	p.D73N	MECOM_uc003ffl.2_Missense_Mutation_p.D45N|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.D73N|MECOM_uc011bpl.1_Missense_Mutation_p.D73N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	73							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGGGGATATCATCAGGGATG	0.473000														53			19		0	0	0.001216	0	0
NWD1	284434	broad.mit.edu	37	19	16875863	16875863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:16875863C>T	uc002neu.4	+	9	2692	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	NWD1_uc002net.4_Missense_Mutation_p.S622F|NWD1_uc002nev.4_Missense_Mutation_p.S551F|NWD1_uc021uqg.1_Missense_Mutation_p.S622F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	757							ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTGGATTTCCTGCCGGGGC	0.597000														39			5		0	0	0.000602	0	0
GYPA	2993	broad.mit.edu	37	4	145032548	145032548	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:145032548C>T	uc003ijo.4	-	6	568	c.452G>A	c.(451-453)tGa>tAa	p.*151*	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Silent_p.*118*|GYPA_uc003ijp.4_Silent_p.*119*|GYPA_uc010ioq.3_Silent_p.*138*|GYPA_uc010ior.3_Silent_p.*86*	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	0					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AACAGATTCTCATTGATCACT	0.323000														14			8		0	0	0.006214	0	0
TANC1	85461	broad.mit.edu	37	2	160035306	160035306	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:160035306C>T	uc002uag.3	+	13	2416	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F	TANC1_uc010fol.1_Silent_p.F608F|TANC1_uc010zcm.2_Silent_p.F706F|TANC1_uc010fom.1_Silent_p.F520F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	714						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGACCTTTTCCAGAGGGGCC	0.552000														36			19		0	0	0.001216	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834922	24834922	+	Missense_Mutation	SNP	C	T	T	rs141030064		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:24834922C>T	uc001iru.4	+	20	5904	c.5501C>T	c.(5500-5502)tCg>tTg	p.S1834L	KIAA1217_uc001irs.3_Missense_Mutation_p.S1155L|KIAA1217_uc001irt.4_Missense_Mutation_p.S1200L|KIAA1217_uc010qcy.2_Missense_Mutation_p.S1265L|KIAA1217_uc010qcz.2_Missense_Mutation_p.S1240L|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1834	Ser-rich.				embryonic skeletal system development	cytoplasm		p.S1834L(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTAAACCATCGATTGCTTCT	0.517000														32			39		0	0	0.006999	0	0
BTK	695	broad.mit.edu	37	X	100625055	100625055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:100625055C>T	uc010nno.2	-	4	657	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	BTK_uc004ehg.2_Missense_Mutation_p.E108K|BTK_uc010nnn.2_Missense_Mutation_p.E108K|BTK_uc004ehi.3_Missense_Mutation_p.E108K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	108					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAGGCCCTTCATCATATACA	0.408000									Agammaglobulinemia, X-linked					57			33		0	0	0.001951	0	0
CARD11	84433	broad.mit.edu	37	7	2979511	2979511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:2979511C>T	uc003smv.3	-	5	1070	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	246					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGATTTCTCTCCAGCTTACAT	0.478000			Mis		DLBCL									114			29		0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179586793	179586793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179586793C>T	uc021vsy.1	-	74	19090	c.18865G>A	c.(18865-18867)Gat>Aat	p.D6289N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2950N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7216	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCAAAATCAGCACTTTCT	0.413000														54			31		0	0	0.001786	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049768	69049768	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:69049768G>A	uc010fdg.3	+	9	1916	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R	ARHGAP25_uc010yql.2_Silent_p.R459R|ARHGAP25_uc002sew.3_Silent_p.R491R|ARHGAP25_uc002sex.3_Silent_p.R492R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	498					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACTCCCAACGGACTTCCACCT	0.547000														59			60		0	0	0.003610	0	0
LRRC17	10234	broad.mit.edu	37	7	102574369	102574369	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102574369G>A	uc003vau.3	+	1	398	c.9G>A	c.(7-9)gtG>gtA	p.V3V	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.V3V	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	3					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GGATGCGTGTGGTTACCATTG	0.493000														4			17		0	0	0.004007	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394212	233394212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233394212G>A	uc001hvl.2	-	4	1631	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	466						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCAGAACACTGATTGGTGGAT	0.572000														23			16		0	0	0.004007	0	0
TCL1B	9623	broad.mit.edu	37	14	96157134	96157134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:96157134C>T	uc001yfa.3	+	1	275	c.224C>T	c.(223-225)tCc>tTc	p.S75F	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Missense_Mutation_p.S75F	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	75										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GAGCTACTCTCCTCCGGCCAG	0.582000														79			52		0	0	0.003610	0	0
HTN1	3346	broad.mit.edu	37	4	70918837	70918837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:70918837C>T	uc003hex.3	+	1	111	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_002159	NP_002150	P15515	HIS1_HUMAN	Homo sapiens histatin 1 (HTN1), mRNA.	15					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						CTCATGATTTCCATGATTGTA	0.323000														8			9		0	0	0.004482	0	0
N4BP2	55728	broad.mit.edu	37	4	40121980	40121980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:40121980C>T	uc003guy.4	+	8	2587	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	N4BP2_uc010ifq.3_Missense_Mutation_p.S670F|N4BP2_uc010ifr.3_Missense_Mutation_p.S670F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	750						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AATGAAAAATCCTCACCTGGT	0.378000														48			15		0	0	0.003163	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427641	197427641	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:197427641G>A	uc003fyc.2	-	6	1287	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	KIAA0226_uc003fyd.3_Silent_p.S308S|KIAA0226_uc003fye.1_Silent_p.S75S|KIAA0226_uc003fyf.3_Silent_p.S201S|KIAA0226_uc003fyg.3_Silent_p.S361S	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	368	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCCCCTAAGGAAGAGGCAG	0.592000														40			10		0	0	0.006214	0	0
TFR2	7036	broad.mit.edu	37	7	100238391	100238391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100238391G>A	uc003uvv.1	-	2	460	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	TFR2_uc003uvw.1_Missense_Mutation_p.H131Y	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	131					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGCCCTGGTGGAAATCCAGG	0.627000														35			6		0	0	0.001168	0	0
SATB1	6304	broad.mit.edu	37	3	18436089	18436089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:18436089C>T	uc003cbh.3	-	6	2806	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	SATB1_uc003cbi.3_Missense_Mutation_p.M357I|SATB1_uc003cbj.3_Missense_Mutation_p.M357I	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	357					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAGGCTTATTCATAGATCTAC	0.488000														46			64		0	0	0.003610	0	0
OR51D1	390038	broad.mit.edu	37	11	4661314	4661314	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4661314C>T	uc010qyk.2	+	0	370	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCTTTTCCTGATGGGCA	0.542000														13			11		0	0	0.000673	0	0
FAM13C	220965	broad.mit.edu	37	10	61029683	61029683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61029683G>A	uc010qif.1	-	6	911	c.845C>T	c.(844-846)cCa>cTa	p.P282L	FAM13C_uc010qid.2_Missense_Mutation_p.P177L|FAM13C_uc001jkn.3_Missense_Mutation_p.P260L|FAM13C_uc001jko.3_Missense_Mutation_p.P260L|FAM13C_uc010qie.2_Missense_Mutation_p.P177L|FAM13C_uc001jkp.3_Missense_Mutation_p.P177L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	260										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTGCTGGGTGGAGATGGGGC	0.428000														10			11		0	0	0.001855	0	0
ABCG2	9429	broad.mit.edu	37	4	89052264	89052264	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:89052264C>T	uc003hrg.3	-	4	973	c.480G>A	c.(478-480)cgG>cgA	p.R160R	ABCG2_uc003hrh.3_Silent_p.R160R|ABCG2_uc003hrf.3_Silent_p.R30R	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	160	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCCTGTTAATCCGTTCGTTTT	0.423000														46			45		0	0	0.003214	0	0
PCNXL2	80003	broad.mit.edu	37	1	233120181	233120181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233120181C>T	uc001hvl.2	-	33	6518	c.6283G>A	c.(6283-6285)Ggg>Agg	p.G2095R	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	2095						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAAGCTGCCCCTGCTCGGTG	0.592000														57			24		0	0	0.006320	0	0
RAB5C	5878	broad.mit.edu	37	17	40282432	40282432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:40282432G>A	uc010cxx.3	-	2	545	c.188C>T	c.(187-189)tCt>tTt	p.S63F	RAB5C_uc002hyz.3_Missense_Mutation_p.S30F|RAB5C_uc002hza.3_Missense_Mutation_p.S30F	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	30					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCCTACCGCAGACTCCCCCAG	0.592000														8			66		0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139793219	139793219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:139793219G>A	uc003yvd.3	-	12	2048	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	534	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGCCCAGGGAACCCTAAAG	0.532000										HNSCC(7;0.00092)				66			12		0	0	0.001855	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411946	20411946	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:20411946C>T	uc010tcn.1	-	5	1153	c.888G>A	c.(886-888)aaG>aaA	p.K296K	ZMYM5_uc001umm.1_Silent_p.K120K|ZMYM5_uc001umn.3_Silent_p.K296K|ZMYM5_uc001umo.3_Missense_Mutation_p.R201K	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	296						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CATTAGCCTTCTTTGTAGATG	0.303000														29			11		0	0	0.001855	0	0
SYT15	83849	broad.mit.edu	37	10	46969278	46969278	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:46969278G>A	uc001jea.3	-	1	336	c.183C>T	c.(181-183)tgC>tgT	p.C61C	SYT15_uc001jdz.2_Silent_p.C61C|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	61						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATGCGGCTGGCAGGGCCTGT	0.627000														22			9		0	0	0.000673	0	0
DDX52	11056	broad.mit.edu	37	17	35993378	35993378	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:35993378T>C	uc002hoi.2	-	2	401	c.357A>G	c.(355-357)aaA>aaG	p.K119K	DDX52_uc002hoh.2_Silent_p.K11K|DDX52_uc002hoj.1_Silent_p.K27K	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	119						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.D118H(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCTGAACTTTTTTGTCTTCAA	0.303000														10			89		0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	124053238	124053238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124053238G>A	uc003ehg.3	+	8	1664	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	KALRN_uc010hrv.1_Missense_Mutation_p.E513K|KALRN_uc003ehf.1_Missense_Mutation_p.E513K|KALRN_uc011bjy.1_Missense_Mutation_p.E513K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	513					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGTGGTGCATGAGGTGTTACA	0.627000														66			15		0	0	0.003163	0	0
AMY2B	280	broad.mit.edu	37	1	104121965	104121965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:104121965C>T	uc010ouo.2	+	21	3083	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	AMY2B_uc001duq.3_Missense_Mutation_p.P460L|AMY2B_uc001dur.3_Missense_Mutation_p.P460L|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	460					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACTGGTCTTCCTGCTGGCACA	0.338000														346			43		0	0	0.002522	0	0
GP6	51206	broad.mit.edu	37	19	55526347	55526347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55526347G>A	uc002qik.3	-	7	990	c.962C>T	c.(961-963)tCa>tTa	p.S321L	GP6_uc002qil.3_Silent_p.I322I|GP6_uc010esq.3_Missense_Mutation_p.S303L	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	321					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	p.P320P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACCCCCGTTTGATTTCCGGGT	0.662000														7			10		0	0	0.001368	0	0
IFI44L	10964	broad.mit.edu	37	1	79094005	79094005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:79094005G>A	uc010oro.2	+	1	584	c.405G>A	c.(403-405)atG>atA	p.M135I	IFI44L_uc010orp.2_Intron|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	135						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TAGATAAAATGATAACAAGAA	0.308000														15			6		0	0	0.001168	0	0
CCDC141	285025	broad.mit.edu	37	2	179736252	179736252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179736252C>T	uc002une.2	-	13	2225	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	CCDC141_uc002unf.1_Missense_Mutation_p.E182K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	128							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATAAGTGCTTCCTGAAGAAGT	0.403000														42			25		0	0	0.003330	0	0
EDIL3	10085	broad.mit.edu	37	5	83433158	83433158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:83433158C>T	uc003kio.1	-	4	789	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EDIL3_uc003kip.1_Missense_Mutation_p.E114K	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	124	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.E124D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGCTCAACTTCGCATTCATTT	0.333000														25			15		0	0	0.002450	0	0
MYT1L	23040	broad.mit.edu	37	2	1983324	1983324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1983324G>A	uc002qxe.3	-	6	885	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	MYT1L_uc002qxd.3_Missense_Mutation_p.P20S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	20					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTCCACGGGAACTGCAGAG	0.443000														21			28		0	0	0.002836	0	0
GALP	85569	broad.mit.edu	37	19	56693615	56693615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56693615G>A	uc002qmo.1	+	3	293	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	71					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCTGTGGAAGGCCATCGGTGA	0.587000														24			6		0	0	0.003080	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880411	15880411	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15880411G>A	uc002nbo.3	-	7		c.1284C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		ATCTCTTTAGGATCGCGGTCC	0.557000														39			7		0	0	0.001984	0	0
NOX4	50507	broad.mit.edu	37	11	89135701	89135701	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:89135701C>T	uc001pct.3	-	8	878	c.639G>A	c.(637-639)ctG>ctA	p.L213L	NOX4_uc009yvr.3_Silent_p.L188L|NOX4_uc001pcu.3_Silent_p.L139L|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Silent_p.L213L|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Silent_p.L47L|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Silent_p.L189L|NOX4_uc009yvq.3_Silent_p.L189L|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	213	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTTGATACTTCAGCAGCCCTC	0.358000														19			10		0	0	0.006214	0	0
RYR3	6263	broad.mit.edu	37	15	34130152	34130152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:34130152G>A	uc001zhi.3	+	88	12041	c.11971G>A	c.(11971-11973)Ggg>Agg	p.G3991R	RYR3_uc010bar.3_Missense_Mutation_p.G3986R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3991					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGGACATAGGGTTTAATGT	0.433000														101			22		0	0	0.001523	0	0
WRN	7486	broad.mit.edu	37	8	30948373	30948373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:30948373C>T	uc003xio.4	+	14	2532	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*	WRN_uc010lvk.3_Nonsense_Mutation_p.Q49*	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	582	Helicase ATP-binding.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTGTGCTTCCAGTATCCACC	0.313000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					51			12		0	0	0.001855	0	0
GCKR	2646	broad.mit.edu	37	2	27746262	27746262	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27746262C>A	uc002rky.3	+	18	1900	c.1834C>A	c.(1834-1836)Cgc>Agc	p.R612S	GCKR_uc010ezd.3_Missense_Mutation_p.R610S|GCKR_uc010ylu.2_Missense_Mutation_p.R422S	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	612					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGTCAGAAGCGCACTGCGGA	0.617000														28			12		7.03913e-09	9.25628e-09	0.001368	1	0
CFHR2	3080	broad.mit.edu	37	1	196920049	196920049	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196920049T>C	uc001gtq.1	+	2	398	c.321T>C	c.(319-321)ggT>ggC	p.G107G	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	107	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						ATCTGGAAGGTGATACTGTAC	0.388000														24			20		0	0	0.001523	0	0
OR6F1	343169	broad.mit.edu	37	1	247875253	247875253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:247875253C>T	uc001idj.1	-	0	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATCAGATCCAAGGCATCT	0.488000														24			24		0	0	0.004656	0	0
DDX60	55601	broad.mit.edu	37	4	169158566	169158566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:169158566G>A	uc003irp.3	-	31	4574	c.4282C>T	c.(4282-4284)Caa>Taa	p.Q1428*		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1428							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTACCTTCTTGATCTAAATAG	0.299000														5			13		0	0	0.004007	0	0
AXDND1	126859	broad.mit.edu	37	1	179414189	179414189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:179414189G>A	uc001gmo.3	+	15	2035	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	AXDND1_uc001gmn.2_Missense_Mutation_p.E338K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.E508K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	550										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						ACATTTACAGGAAAACTGGGC	0.378000														31			26		0	0	0.007291	0	0
ARPP21	10777	broad.mit.edu	37	3	35778694	35778694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:35778694G>A	uc011axy.2	+	13	1594	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	ARPP21_uc003cga.3_Missense_Mutation_p.G441E|ARPP21_uc003cgb.3_Missense_Mutation_p.G495E|ARPP21_uc003cgf.3_Missense_Mutation_p.G296E|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	495						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AATCCCGATGGAACTCCTGCA	0.547000														53			16		0	0	0.006122	0	0
FLT1	2321	broad.mit.edu	37	13	28959163	28959163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:28959163C>T	uc001usb.3	-	13	2260	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	FLT1_uc010aar.1_Missense_Mutation_p.E659K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	659					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATGGTGCTTCCTGATCTAGT	0.428000														64			17		0	0	0.001523	0	0
MGAM	8972	broad.mit.edu	37	7	141765190	141765191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141765190_141765191CC>TT	uc003vwy.3	+	37	4594_4595	c.4540_4541CC>TT	c.(4540-4542)ccc>TTc	p.P1514F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1514	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCACATTTCCCTCTTCTGGC	0.614000														7			4		0	0	0.004672	0	0
TBX5	6910	broad.mit.edu	37	12	114804111	114804111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:114804111G>A	uc001tvo.3	-	7	1336	c.841C>T	c.(841-843)Ctc>Ttc	p.L281F	TBX5_uc001tvp.3_Missense_Mutation_p.L281F|TBX5_uc001tvq.3_Missense_Mutation_p.L231F|TBX5_uc010syv.2_Missense_Mutation_p.L281F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	281					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGGTGGAGAGAGCTCGAGAC	0.557000														29			29		0	0	0.001512	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237154	30237154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:30237154C>T	uc022buf.1	+	0	457	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	MAGEB2_uc004dbz.3_Missense_Mutation_p.L153F	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	153	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCCTGAGATCCTCAAGAAAGC	0.453000														12			4		0	0	0.000602	0	0
MBD5	55777	broad.mit.edu	37	2	149226637	149226637	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:149226637C>T	uc002twm.4	+	8	2122	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	375	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCCTGTTATCATTAATCCAA	0.413000														41			29		0	0	0.001512	0	0
NEB	4703	broad.mit.edu	37	2	152409917	152409917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:152409917C>T	uc021vrb.1	-	97	14652	c.14623G>A	c.(14623-14625)Gat>Aat	p.D4875N	NEB_uc002txr.3_Missense_Mutation_p.D1341N|NEB_uc002txu.3_Missense_Mutation_p.D6576N|NEB_uc021vrc.1_Missense_Mutation_p.D6576N|NEB_uc010fnx.3_Missense_Mutation_p.D4863N|NEB_uc021vrd.1_Missense_Mutation_p.D4875N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4875					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)		CTCACATCATCACGTAGATCA	0.418000														33			12		0	0	0.000978	0	0
TCRB	0	broad.mit.edu	37	7	142099653	142099653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142099653G>A	uc003vyz.1	-	1	149	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.S50F					SubName: Full=Uncharacterized protein;																		CCAAAAAAGGGATACATGACC	0.522000														39			12		0	0	0.002450	0	0
OR6T1	219874	broad.mit.edu	37	11	123813841	123813841	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:123813841C>T	uc010sab.2	-	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAAACGCTTTCCTTCGCTCAG	0.512000														16			13		0	0	0.001368	0	0
TRRAP	8295	broad.mit.edu	37	7	98507909	98507909	+	Silent	SNP	C	T	T	rs138096391		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98507909C>T	uc003upp.3	+	14	1790	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	TRRAP_uc011kis.2_Silent_p.F527F|TRRAP_uc003upr.3_Silent_p.F219F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	527					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCTCCCTTCGAGAAGCAAG	0.617000														23			38		0	0	0.004878	0	0
STOX2	56977	broad.mit.edu	37	4	184938369	184938369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:184938369C>T	uc003ivz.1	+	3	4148	c.2713C>T	c.(2713-2715)Ccg>Tcg	p.P905S	AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	905					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CGCGGAGCCCCCGACAAATGA	0.527000														12			3		0	0	0.004672	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606174	21606174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:21606174C>T	uc003cce.3	-	2	576	c.168G>A	c.(166-168)atG>atA	p.M56I	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	56						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAATCGGGTCCATCTGTAATG	0.363000														29			6		0	0	0.001168	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211688	55211688	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:55211688G>A	uc002xya.3	+	5	1188	c.945G>A	c.(943-945)agG>agA	p.R315R	TFAP2C_uc010zzi.2_Silent_p.R146R	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	315	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ATTTGGCTAGGGACTTTGCCT	0.443000														56			46		0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	99786865	99786865	+	Silent	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:99786865T>G	uc001pga.3	+	6	1161	c.657T>G	c.(655-657)ccT>ccG	p.P219P	CNTN5_uc009ywv.2_Silent_p.P219P|CNTN5_uc001pfz.3_Silent_p.P219P|CNTN5_uc021qpb.1_Silent_p.P219P|CNTN5_uc021qpc.1_Silent_p.P145P	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	219	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTGCTCTCCTCCGCCACATT	0.453000														3			3		0	0	0.004672	0	0
OR10T2	128360	broad.mit.edu	37	1	158368629	158368629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158368629C>T	uc010pih.2	-	0	628	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGAAAAGGCACCATAATTACC	0.463000														20			10		0	0	0.006214	0	0
HRG	3273	broad.mit.edu	37	3	186395302	186395302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:186395302G>A	uc003fqq.3	+	6	1231	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	403	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		catccccatggacaccatccc	0.572000														5			4		0	0	0.000602	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910900	101910900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:101910900C>T	uc010nod.3	+	2	2701	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.P687S|GPRASP1_uc004ejj.4_Missense_Mutation_p.P687S|GPRASP1_uc004eji.4_Missense_Mutation_p.P687S|GPRASP1_uc022cbd.1_Missense_Mutation_p.P687S	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	687	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGTATGTATCCTGCCGGTGG	0.478000														104			37		0	0	0.004878	0	0
SCN4A	6329	broad.mit.edu	37	17	62049958	62049958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:62049958C>T	uc002jds.1	-	0	321	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	82					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGATCCAGGTCCTCCAGGGGG	0.597000														2			16		0	0	0.003163	0	0
GP5	2814	broad.mit.edu	37	3	194118166	194118166	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:194118166C>T	uc003ftv.1	-	1	877	c.846G>A	c.(844-846)ccG>ccA	p.P282P	GP5_uc021xiz.1_Silent_p.P282P	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	282					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGAGCACCCCCGGGAGCTCTG	0.637000														35			7		0	0	0.001984	0	0
SCN10A	6336	broad.mit.edu	37	3	38770123	38770123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38770123C>T	uc003ciq.3	-	14	2550	c.2550G>A	c.(2548-2550)tgG>tgA	p.W850*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	850					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTTCTCAATCCACTCTCCAC	0.517000														29			9		0	0	0.004482	0	0
ITGB1	3688	broad.mit.edu	37	10	33190517	33190517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:33190517G>A	uc001iws.4	-	15	2514	c.2378C>T	c.(2377-2379)cCg>cTg	p.P793L	ITGB1_uc001iwr.4_3'UTR|ITGB1_uc001iwt.4_Missense_Mutation_p.P793L	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	793					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTCATACTTCGGATTGACCAC	0.368000														31			4		0	0	0.000602	0	0
CD86	942	broad.mit.edu	37	3	121825305	121825305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:121825305G>A	uc003eet.3	+	3	789	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	CD86_uc011bjo.2_Missense_Mutation_p.E139K|CD86_uc011bjp.2_Missense_Mutation_p.E109K|CD86_uc003eeu.3_Missense_Mutation_p.E215K|CD86_uc021xcz.1_Missense_Mutation_p.E215K	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	221	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CTGTATTCTGGAAACTGACAA	0.388000														42			62		0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11687708	11687708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11687708G>A	uc002gne.3	+	40	7981	c.7913G>A	c.(7912-7914)gGa>gAa	p.G2638E	DNAH9_uc010coo.3_Missense_Mutation_p.G1932E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2638	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2637L(1)|p.G2638*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAAGCTCGGAAACTTCCCG	0.562000														22			85		0	0	0.003610	0	0
PDZD4	57595	broad.mit.edu	37	X	153070124	153070124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153070124C>T	uc004fja.1	-	7	1262	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	PDZD4_uc004fiy.1_Missense_Mutation_p.D257N|PDZD4_uc004fiz.1_Missense_Mutation_p.D332N|PDZD4_uc004fix.2_Missense_Mutation_p.D236N|PDZD4_uc011mze.1_Missense_Mutation_p.D223N|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	332						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAGAGTCCATGCTGAAA	0.672000														39			17		0	0	0.004990	0	0
FAM176A	84141	broad.mit.edu	37	2	75720527	75720527	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:75720527C>T	uc002sni.2	-	3	772	c.294G>A	c.(292-294)cgG>cgA	p.R98R	FAM176A_uc002snj.1_Silent_p.R85R|FAM176A_uc002snk.1_Silent_p.R98R	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	98					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GGCGGTGTCTCCGCACGGAGA	0.632000														22			25		0	0	0.004656	0	0
OR9A2	135924	broad.mit.edu	37	7	142723785	142723786	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142723785_142723786CC>TT	uc003wcc.1	-	0	434_435	c.434_435GG>AA	c.(433-435)tgg>tAA	p.W145*		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATCCAAACACCCATGACACTAT	0.436000														27			34		0	0	0.004672	0	0
CACNA1E	777	broad.mit.edu	37	1	181759621	181759622	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:181759621_181759622CC>TT	uc009wxt.3	+	43	6022_6023	c.5827_5828CC>TT	c.(5827-5829)ccc>TTc	p.P1943F	CACNA1E_uc001gow.3_Missense_Mutation_p.P1943F|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1924F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1943					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCACTCTCTCCCCAGGATATA	0.500000														25			6		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152284394	152284394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152284394C>T	uc001ezu.1	-	2	3004	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	990	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.572000									Ichthyosis					82			90		0	0	0.003610	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643687	94643687	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:94643687G>A	uc001dqj.4	-	20	2886	c.2517C>T	c.(2515-2517)tcC>tcT	p.S839S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.S405S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	839	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAAGTTTTTGGAGTTCATCT	0.413000														44			9		0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9065080	9065080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9065080C>T	uc002mkp.3	-	2	22570	c.22366G>A	c.(22366-22368)Gtt>Att	p.V7456I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7458	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						AGTATTTCAACTGAGGTGCTG	0.478000														26			47		0	0	0.003610	0	0
ENOX1	55068	broad.mit.edu	37	13	43934166	43934166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:43934166C>T	uc001uza.4	-	6	710	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	ENOX1_uc001uzc.4_Missense_Mutation_p.R137Q|ENOX1_uc001uzb.4_Missense_Mutation_p.R137Q|ENOX1_uc010tfm.1_5'UTR	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	137	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCCAGGAGGTCGTTCTCTTGT	0.393000														25			12		0	0	0.001855	0	0
TKTL1	8277	broad.mit.edu	37	X	153556204	153556204	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153556204C>T	uc004fkg.3	+	11	1704	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	TKTL1_uc011mzl.2_Silent_p.I500I|TKTL1_uc011mzm.2_Silent_p.I302I|TKTL1_uc004fkh.3_Silent_p.I450I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	506					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.V505I(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGTGTCATCGACCTGTTTA	0.453000														98			108		0	0	0.003610	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514124	113514124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:113514124G>A	uc002tie.2	-	3	903	c.824C>T	c.(823-825)tCa>tTa	p.S275L	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.S110L|CKAP2L_uc010yxq.1_Missense_Mutation_p.S110L	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	275						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AACCGTCCTTGAGGGTTTTAC	0.398000														52			46		0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67075194	67075194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:67075194C>T	uc002jhw.1	-	38	4949	c.4774G>A	c.(4774-4776)Gaa>Aaa	p.E1592K		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1592					transport	integral to membrane	ATP binding|ATPase activity	p.E1592Q(2)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTCCTGTTCTTTAGAAAGC	0.348000														5			28		0	0	0.004656	0	0
MLH1	4292	broad.mit.edu	37	3	37055956	37055956	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37055956C>T	uc003cgl.3	+	8	909	c.711C>T	c.(709-711)acC>acT	p.T237T	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Silent_p.T237T|MLH1_uc011ayc.2_Silent_p.T139T|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.3_5'UTR|MLH1_uc010hgl.1_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	237			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGGATAAAACCCTAGCCTTCA	0.328000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					48			11		0	0	0.003163	0	0
CLCNKA	1187	broad.mit.edu	37	1	16375068	16375068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:16375068C>T	uc001axx.4	+	6	782	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	216					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTTGCAGCTCCCTTCAGCGG	0.647000														26			9		0	0	0.006214	0	0
TMEM214	54867	broad.mit.edu	37	2	27257114	27257114	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27257114C>T	uc002ria.4	+	1	441	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	TMEM214_uc002rib.4_Silent_p.L111L	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	111						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTTCCGCAGCCTGGAGGAAGC	0.547000														26			15		0	0	0.006122	0	0
PSMB11	122706	broad.mit.edu	37	14	23512017	23512017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:23512017G>A	uc010ake.1	+	0	642	c.583G>A	c.(583-585)Gac>Aac	p.D195N		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	195					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CTATCGCTACGACATGAGCAC	0.627000														34			19		0	0	0.007413	0	0
OSBPL11	114885	broad.mit.edu	37	3	125271248	125271248	+	Silent	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:125271248G>T	uc003eic.3	-	8	2168	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	477					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCCCTGGGTGGAAGAACTGC	0.448000														26			5		3.59834e-05	4.70219e-05	0.001168	1	0
HMG20B	10362	broad.mit.edu	37	19	3578055	3578055	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3578055C>T	uc002lya.3	+	8	953	c.885C>T	c.(883-885)ccC>ccT	p.P295P	HMG20B_uc002lyb.3_Silent_p.P193P	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	295					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCGACCCCGCCCAGCACG	0.701000														7			24		0	0	0.003954	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				30			119		0	0	0.003610	0	0
SVIL	6840	broad.mit.edu	37	10	29813480	29813480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:29813480C>T	uc001iut.1	-	13	3260	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.R410Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	836					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.R836R(1)|p.R836W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TATTCTGTTCCGGGTAGAAAT	0.502000														47			13		0	0	0.001368	0	0
OR8K5	219453	broad.mit.edu	37	11	55927077	55927077	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55927077G>A	uc010rja.2	-	0	717	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AACCACATGTGGAGAAAGCCT	0.408000														13			4		0	0	0.000248	0	0
KLRC2	3822	broad.mit.edu	37	12	10569303	10569303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:10569303G>A	uc001qyi.1	-	4	595	c.550C>T	c.(550-552)Cca>Tca	p.P184S	KLRC2_uc001qyf.3_Missense_Mutation_p.P184S|KLRC2_uc021qvc.1_Missense_Mutation_p.P184S|KLRC2_uc001qyh.3_Missense_Mutation_p.P184S|KLRC2_uc021qvd.1_Missense_Mutation_p.P184S	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	183	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.P183S(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GTCACCCATGGATGATGACTG	0.299000														1			22		0	0	0.007291	0	0
LRRC24	441381	broad.mit.edu	37	8	145748093	145748093	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:145748093C>T	uc003zdm.3	-	4	1440	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	436						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCGGAGGCCCCCGCGCCTTTT	0.697000														3			5		0	0	0.001168	0	0
THEMIS	387357	broad.mit.edu	37	6	128134279	128134279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:128134279C>T	uc011ebt.2	-	3	1656	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	THEMIS_uc010kfa.3_Missense_Mutation_p.E406K|THEMIS_uc021zfa.1_Missense_Mutation_p.E503K|THEMIS_uc010kfb.3_Missense_Mutation_p.E468K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	503	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACAGGAATTTCCCAGCACTCC	0.483000														4			35		0	0	0.003755	0	0
OR52B2	255725	broad.mit.edu	37	11	6191460	6191460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:6191460G>A	uc010qzy.2	-	0	97	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAGGCAAAGAGGTATTGAC	0.458000														22			9		0	0	0.004482	0	0
ZNF277	11179	broad.mit.edu	37	7	111976201	111976201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:111976201C>T	uc003vge.2	+	7	973	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	ZNF277_uc003vgf.2_Missense_Mutation_p.R204W	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	282						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAAGATGATCGGGAGTTGCT	0.413000														31			7		0	0	0.000673	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873102	37873102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:37873102G>A	uc021vfz.1	-	0	629	c.629C>T	c.(628-630)cCa>cTa	p.P210L	CDC42EP3_uc002rqi.1_Missense_Mutation_p.P210L	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	210					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GAGCTCGCATGGGGTGGGATG	0.572000														38			19		0	0	0.001216	0	0
LAMB4	22798	broad.mit.edu	37	7	107738880	107738880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:107738880C>T	uc010ljo.1	-	10	1412	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	LAMB4_uc003vey.2_Missense_Mutation_p.G443E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	443	Laminin EGF-like 3.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCGCTTAGTCCGTAGTGGTT	0.572000														35			17		0	0	0.006122	0	0
MTMR8	55613	broad.mit.edu	37	X	63444318	63444319	+	Missense_Mutation	DNP	CG	TT	TT	rs144858124		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:63444318_63444319CG>TT	uc011mou.2	-	10	2068_2069	c.1978_1979CG>AA	c.(1978-1980)cgt>AAt	p.R660N	MTMR8_uc004dvq.2_Missense_Mutation_p.R276N|MTMR8_uc004dvr.2_Missense_Mutation_p.R285N	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GACGACTAAACGGACCTGTGAT	0.500000														22			4		0	0	0.004672	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965092	42965092	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:42965092C>T	uc003gwt.3	+	1	569	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	190	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CGAACGATGCCGACGAGTTTC	0.423000														71			16		0	0	0.006122	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568504	140568504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140568504C>T	uc003liw.1	+	1	1610	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	538	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCGGCTCCCCGGCTTTG	0.672000														58			29		0	0	0.006320	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983279	17983279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17983279G>A	uc002nhr.4	+	0	498	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	51					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTTCACCGGGGGCCGGCGCCT	0.716000														16			4		0	0	0.000248	0	0
ZNF226	7769	broad.mit.edu	37	19	44681046	44681046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44681046C>T	uc002oys.3	+	5	1811	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ZNF226_uc002oyp.3_Missense_Mutation_p.S544L|ZNF226_uc002oyq.3_Missense_Mutation_p.S427L|ZNF226_uc002oyr.3_Missense_Mutation_p.S427L|ZNF226_uc002oyt.3_Missense_Mutation_p.S544L	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCAAAGTTCGTATCTTCAA	0.443000														89			22		0	0	0.002780	0	0
TRANK1	9881	broad.mit.edu	37	3	36888715	36888715	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36888715G>A	uc003cgj.3	-	14	5126	c.4878C>T	c.(4876-4878)ctC>ctT	p.L1626L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1626					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATTCACCATGAGAGATCGAC	0.458000														13			6		0	0	0.001984	0	0
RP1L1	94137	broad.mit.edu	37	8	10470224	10470224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:10470224G>A	uc003wtc.3	-	3	1613	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	462					intracellular signal transduction			p.L461F(1)		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)		GAGCCCTCGGGGAGGCCGGTG	0.721000														55			17		0	0	0.001216	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800287	34800287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:34800287G>A	uc010gfq.3	+	5	2833	c.2470G>A	c.(2470-2472)Gat>Aat	p.D824N	EPB41L1_uc002xeu.3_Missense_Mutation_p.D651N|EPB41L1_uc010zvo.1_Missense_Mutation_p.D725N|EPB41L1_uc002xev.3_Missense_Mutation_p.D725N|EPB41L1_uc002xew.3_Missense_Mutation_p.D616N|EPB41L1_uc002xex.3_Missense_Mutation_p.D545N|EPB41L1_uc002xey.3_Missense_Mutation_p.D503N|EPB41L1_uc002xez.3_Missense_Mutation_p.D651N|EPB41L1_uc002xfb.3_Missense_Mutation_p.D725N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	725	Carboxyl-terminal (CTD).				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)					CTCCGCTATGGATAACACCCA	0.537000														61			32		0	0	0.002096	0	0
KIAA1653	0	broad.mit.edu	37	22	20296933	20296933	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:20296933C>T	uc002zrw.1	+	2		c.3085C>T								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		CCACCCTGCACCGAAACCCCA	0.632000														35			5		0	0	0.000602	0	0
ASAP1	50807	broad.mit.edu	37	8	131127951	131127951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:131127951G>A	uc003yta.2	-	22	2323	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	ASAP1_uc003ysz.2_Missense_Mutation_p.P510S|ASAP1_uc011liw.2_Missense_Mutation_p.P692S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	699					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGGACGTGTGGATTGAACTTT	0.403000														55			98		0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249499	123249499	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:123249499T>C	uc003ieh.3	+	63	11281	c.11236T>C	c.(11236-11238)Tac>Cac	p.Y3746H	KIAA1109_uc003iem.3_Missense_Mutation_p.Y137H	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3746					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTTTATATTTACAGGAAACC	0.363000														12			7		0	0	0.001984	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834348	101834348	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:101834348C>T	uc003knn.3	-	0	373	c.201G>A	c.(199-201)agG>agA	p.R67R	SLCO6A1_uc003kno.3_Silent_p.R67R|SLCO6A1_uc003knp.3_Silent_p.R67R|SLCO6A1_uc003knq.3_Silent_p.R67R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	67						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGGCTTTTTTCCTTTTTCGGA	0.537000														72			73		0	0	0.003610	0	0
C19orf26	255057	broad.mit.edu	37	19	1231200	1231200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:1231200G>A	uc002lrm.2	-	8	1311	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	372						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTGGGGGGCATCCCCC	0.711000										HNSCC(14;0.022)				24			38		0	0	0.006230	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232206	32232206	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:32232206C>T	uc002wzg.1	+	11	2106	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	CBFA2T2_uc010zug.1_Silent_p.I297I|CBFA2T2_uc002wze.1_Silent_p.I514I|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Silent_p.I494I|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Silent_p.I71I	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	523						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTGCAATATCGCGCGATACT	0.612000														85			61		0	0	0.003610	0	0
C16orf71	146562	broad.mit.edu	37	16	4790201	4790201	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:4790201G>A	uc002cxn.3	+	3	786	c.324G>A	c.(322-324)caG>caA	p.Q108Q		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	108										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGTGCAGACAGAACACAAGGA	0.522000														100			44		0	0	0.003610	0	0
COL5A3	50509	broad.mit.edu	37	19	10114320	10114320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:10114320C>T	uc002mmq.1	-	5	856	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	257	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTGCGACCTCGCCCTTTCTT	0.582000														57			19		0	0	0.001216	0	0
HEATR3	55027	broad.mit.edu	37	16	50118190	50118190	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:50118190C>T	uc002efw.3	+	8	1440	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	HEATR3_uc021thv.1_3'UTR|HEATR3_uc002efx.3_Silent_p.L340L|HEATR3_uc021thw.1_5'Flank	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	426							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCAACTACCTCATCCCAAAGA	0.473000														4			19		0	0	0.001882	0	0
DCLK3	85443	broad.mit.edu	37	3	36778777	36778777	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36778777G>A	uc003cgi.2	-	1	1865	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	458	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ATAAGTCCATGATCATGAGGG	0.507000														47			13		0	0	0.003163	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719102	140719102	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140719102G>A	uc003ljk.2	+	0	749	c.564G>A	c.(562-564)ggG>ggA	p.G188G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.G188G	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	188	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGATGGGAACAAGTACC	0.577000														26			43		0	0	0.002852	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431549	107431549	+	Missense_Mutation	SNP	C	T	T	rs71566741		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:107431549C>T	uc003ver.2	-	4	725	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SLC26A3_uc003ves.2_Missense_Mutation_p.E137K	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	172					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CTCACCCTCTCGTCATCCAGT	0.493000														44			9		0	0	0.004482	0	0
ANKRD17	26057	broad.mit.edu	37	4	74019668	74019668	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:74019668T>C	uc003hgp.3	-	5	1280	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G	ANKRD17_uc003hgo.3_Missense_Mutation_p.E275G|ANKRD17_uc003hgq.3_Missense_Mutation_p.E388G|ANKRD17_uc003hgr.3_Missense_Mutation_p.E388G|ANKRD17_uc011cbd.1_Missense_Mutation_p.E17G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	388					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCCCATTTTCTAGCAGCAA	0.408000														34			36		0	0	0.006999	0	0
PTPRD	5789	broad.mit.edu	37	9	8460539	8460539	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:8460539G>A	uc003zkk.3	-	32	4490	c.3747C>T	c.(3745-3747)ccC>ccT	p.P1249P	PTPRD_uc003zkp.3_Silent_p.P838P|PTPRD_uc003zkq.3_Silent_p.P838P|PTPRD_uc003zkr.3_Silent_p.P833P|PTPRD_uc003zks.3_Silent_p.P828P|PTPRD_uc022bdj.1_Silent_p.P835P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(2)|p.D1248D(1)|p.D1248N(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGACACCACGGGGTCGGAGT	0.438000										TSP Lung(15;0.13)				4			18		0	0	0.001523	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128409143C>T	uc022ald.1	+	7	1837	c.894C>T	c.(892-894)atC>atT	p.I298I	CALU_uc022alg.1_Silent_p.I216I|CALU_uc022alh.1_Silent_p.I216I|CALU_uc022ali.1_Silent_p.I138I|CALU_uc003vns.3_Silent_p.I290I|CALU_uc003vnr.3_Silent_p.I298I|CALU_uc003vnq.3_Silent_p.I290I|CALU_uc022ale.1_Missense_Mutation_p.R224C|CALU_uc022alf.1_Silent_p.I139I	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	290	EF-hand 6.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000														8			22		0	0	0.003330	0	0
ARAP2	116984	broad.mit.edu	37	4	36126533	36126533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:36126533G>A	uc003gsq.2	-	21	4035	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1233	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGACCCCTGGAAGAGAACGT	0.368000														5			9		0	0	0.001368	0	0
KIAA0146	23514	broad.mit.edu	37	8	48353101	48353101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:48353101C>T	uc003xqd.3	+	7	1156	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Missense_Mutation_p.P54L|KIAA0146_uc011ldb.2_Missense_Mutation_p.P365L|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Missense_Mutation_p.P295L|KIAA0146_uc011ldd.2_Missense_Mutation_p.P305L|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.P54L|KIAA0146_uc010lxt.3_Missense_Mutation_p.P54L	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	365								p.P364S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				ATCTTCCCTCCCTGGTGAGTG	0.517000														42			13		0	0	0.001855	0	0
TMEM199	147007	broad.mit.edu	37	17	26687783	26687783	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:26687783C>T	uc010wah.1	+	4	451	c.444C>T	c.(442-444)atC>atT	p.I148I	TMEM199_uc002hba.3_Silent_p.I148I	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	148						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTCTGGTCATCACCATCTTCA	0.493000														10			84		0	0	0.003610	0	0
S100A8	6279	broad.mit.edu	37	1	153362891	153362891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:153362891C>T	uc001fbs.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	41	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGGACACTCGGTCTCTAGC	0.582000														39			44		0	0	0.003214	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890238	156890238	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:156890238C>T	uc003lwx.4	+	1	476	c.360C>T	c.(358-360)atC>atT	p.I120I	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.I120I|NIPAL4_uc010jin.1_Missense_Mutation_p.S55L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	120						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GCTTCTACATCGGCCTGGGCC	0.572000														32			36		0	0	0.004289	0	0
MED12	9968	broad.mit.edu	37	X	70350002	70350002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:70350002C>T	uc004dyy.3	+	27	4184	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*	MED12_uc011mpq.1_Nonsense_Mutation_p.R1329*|MED12_uc004dyz.3_Nonsense_Mutation_p.R1329*|MED12_uc004dza.3_Nonsense_Mutation_p.R1176*|MED12_uc010nla.3_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1329					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTATCCACATCGACTGCTGGA	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							9			3		0	0	0.000248	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037238	129037238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:129037238G>A	uc003kvb.1	+	19	3094	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1032	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGCGCTGTGAGGGCCAGGA	0.582000														24			29		0	0	0.002836	0	0
CGREF1	10669	broad.mit.edu	37	2	27327256	27327256	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27327256G>A	uc010eyr.2	-	0	350	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Intron|CGREF1_uc021vfa.1_Intron|CGREF1_uc010eys.2_Intron|CGREF1_uc002rir.2_Intron	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	0	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	p.P114P(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAACAAGGAAGAGAATCA	0.557000														16			7		0	0	0.001984	0	0
ABCA13	154664	broad.mit.edu	37	7	48443295	48443295	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:48443295G>A	uc003toq.2	+	38	11913	c.11889G>A	c.(11887-11889)gtG>gtA	p.V3963V	ABCA13_uc010kys.1_Silent_p.V1037V|ABCA13_uc003tos.1_Silent_p.V789V|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3963	ABC transporter 1.				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						TTCAGGATGTGGACTTAACTC	0.453000														27			5		0	0	0.000602	0	0
FRY	10129	broad.mit.edu	37	13	32811687	32811687	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:32811687C>T	uc001utx.3	+	43	6478	c.5982C>T	c.(5980-5982)tcC>tcT	p.S1994S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1994					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)		TCGACCGATCCTCTGACCCAC	0.557000														21			8		0	0	0.003080	0	0
DCC	1630	broad.mit.edu	37	18	50866094	50866094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:50866094C>T	uc002lfe.2	+	14	2792	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	DCC_uc010xdr.1_Missense_Mutation_p.P574S|DCC_uc010dpf.2_Missense_Mutation_p.P381S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	726	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCTCAAGTTCCTGATCAACC	0.428000														4			18		0	0	0.001523	0	0
SVIL	6840	broad.mit.edu	37	10	29813478	29813478	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:29813478T>A	uc001iut.1	-	13	3262	c.2509A>T	c.(2509-2511)Aac>Tac	p.N837Y	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.N411Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	837					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.R836R(1)|p.R836W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTATTCTGTTCCGGGTAGAA	0.498000														49			11		0	0	0.000673	0	0
TPTE	7179	broad.mit.edu	37	21	10910393	10910393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:10910393C>T	uc002yip.1	-	21	1731	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D437N|TPTE_uc002yir.1_Missense_Mutation_p.D417N|TPTE_uc010gkv.1_Missense_Mutation_p.D317N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	455	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAATGTTATCAAGTACCTAT	0.318000														31			9		0	0	0.006214	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659855	74659855	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:74659855C>T	uc002axt.2	-	0	227	c.72G>A	c.(70-72)agG>agA	p.R24R	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.R24R	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	24					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCAGCCCCTCCCTGGGGGCAC	0.642000														26			35		0	0	0.004878	0	0
TMEM9B	56674	broad.mit.edu	37	11	8969979	8969979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:8969979G>A	uc001mhe.1	-	4	614	c.485C>T	c.(484-486)tCc>tTc	p.S162F	TMEM9B_uc001mhf.1_Missense_Mutation_p.S88F|TMEM9B_uc010rbt.1_Missense_Mutation_p.S88F	NM_020644	NP_065695	Q9NQ34	TMM9B_HUMAN	Homo sapiens TMEM9 domain family, member B (TMEM9B), mRNA.	162					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		TCGACTGCGGGAGCGGGCTAG	0.498000														33			17		0	0	0.004990	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507296	98507298	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:98507296_98507298CC>TA	uc003dtc.3	+	8	1212_1214	c.745_747CC>TA	c.(745-747)ccc>TA	p.P249del	ST3GAL6_uc003dsy.3_Missense_Mutation_p.P163del|ST3GAL6_uc003dsz.3_Missense_Mutation_p.P249del|ST3GAL6_uc003dta.3_Missense_Mutation_p.P131del|ST3GAL6_uc010hpd.3_Missense_Mutation_p.P302del	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	249					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAAGTGTTTCCCAAAAATCAGG	0.379000														56			7		0	0	0.004672	0	0
BNC1	646	broad.mit.edu	37	15	83933219	83933219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:83933219C>T	uc002bjt.1	-	3	872	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	BNC1_uc010uos.1_Missense_Mutation_p.E250K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	262					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATATATTGTTCGGGCAATGAC	0.498000														50			10		0	0	0.000673	0	0
COL13A1	1305	broad.mit.edu	37	10	71657230	71657230	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:71657230G>A	uc001jql.3	+	13	1194	c.658_splice	c.e13-1	p.E220_splice	COL13A1_uc021prz.1_Splice_Site_p.E220_splice|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Splice_Site_p.E191_splice|COL13A1_uc001jqk.2_Splice_Site_p.E220_splice|COL13A1_uc021psc.1_Intron|COL13A1_uc021psd.1_Splice_Site_p.E220_splice|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Splice_Site_p.E191_splice|COL13A1_uc021psf.1_Splice_Site_p.E220_splice|COL13A1_uc021psg.1_Splice_Site_p.E220_splice|COL13A1_uc021psh.1_Intron	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	220	Nonhelical region 2 (NC2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TCCCAAACTAGGAGTGCCTAA	0.617000														8			11		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167178	140167178	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140167178C>T	uc003lhb.2	+	0	1303	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	PCDHAC2_uc003lha.2_Silent_p.L435L|PCDHAC2_uc003lgz.3_Silent_p.L435L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	449	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCTTCGCTGTGGGCCAC	0.627000														41			41		0	0	0.001951	0	0
ABCE1	6059	broad.mit.edu	37	4	146031360	146031360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:146031360C>T	uc003ijx.3	+	5	951	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	ABCE1_uc003ijy.3_Nonsense_Mutation_p.Q171*|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	171	ABC transporter 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATCAAACCTCAATATGTAGA	0.343000														31			34		0	0	0.002852	0	0
PREX2	80243	broad.mit.edu	37	8	69005939	69005939	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:69005939T>C	uc003xxv.1	+	20	2377	c.2350T>C	c.(2350-2352)Ttt>Ctt	p.F784L	PREX2_uc003xxu.1_Missense_Mutation_p.F784L|PREX2_uc011lez.1_Missense_Mutation_p.F719L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	784					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGGGGATGCTTTTGACTGTAA	0.408000														29			30		0	0	0.002445	0	0
CACNA1F	778	broad.mit.edu	37	X	49079547	49079547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:49079547C>T	uc004dnb.3	-	14	2021	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	CACNA1F_uc010nip.3_Missense_Mutation_p.M642I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	653					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGATGGATTTCATTGAATTGA	0.522000														5			4		0	0	0.001168	0	0
UPRT	139596	broad.mit.edu	37	X	74494158	74494158	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:74494158C>T	uc004ecb.2	+	0	265	c.69C>T	c.(67-69)acC>acT	p.T23T	UPRT_uc010nlu.2_Silent_p.T23T|UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_Silent_p.T23T	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	23					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTGCCTCAACCCCAAGTCCCG	0.627000														16			4		0	0	0.000248	0	0
ZEB1	6935	broad.mit.edu	37	10	31784752	31784752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:31784752G>A	uc001ivs.4	+	2	367	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.E103K|ZEB1_uc010qeh.2_Missense_Mutation_p.E35K|ZEB1_uc001ivv.4_Intron|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.E85K|ZEB1_uc009xlp.3_Missense_Mutation_p.E86K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	102					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAGGCAGATGAAGCAGGATG	0.408000														33			36		0	0	0.007835	0	0
SORL1	6653	broad.mit.edu	37	11	121420724	121420724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:121420724C>T	uc001pxx.3	+	14	2236	c.2107C>T	c.(2107-2109)Ccg>Tcg	p.P703S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	703					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTTCCAGATCCGGAATTTTC	0.448000														12			16		0	0	0.006122	0	0
LILRB2	10288	broad.mit.edu	37	19	54783395	54783395	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54783395G>A	uc002qfb.3	-	4	729	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.L155L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.L155L|LILRB2_uc010yet.2_Silent_p.L39L|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	155	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTTACACAGAATGAAGCCG	0.622000														68			13		0	0	0.001855	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003979	27003979	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:27003979G>A	uc003acy.1	-	3	376	c.306C>T	c.(304-306)gtC>gtT	p.V102V		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	102	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GCTCAAAGGCGACCCAGCTGG	0.572000														52			12		0	0	0.002450	0	0
SV2A	9900	broad.mit.edu	37	1	149885219	149885219	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:149885219G>A	uc001etg.3	-	1	665	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SV2A_uc001eth.2_Silent_p.F58F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	58					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGGAGCAGGGAAGTCATCAT	0.547000														59			21		0	0	0.002780	0	0
MYH10	4628	broad.mit.edu	37	17	8397081	8397081	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:8397081C>T	uc002glm.3	-	31	4275	c.4179G>A	c.(4177-4179)ctG>ctA	p.L1393L	MYH10_uc002gll.3_Silent_p.L1362L|MYH10_uc010cnx.3_Silent_p.L1371L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1362					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						CTTGCTTCTCCAGGTTCTTCC	0.607000														7			37		0	0	0.004289	0	0
CAMK1G	57172	broad.mit.edu	37	1	209768407	209768407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:209768407G>A	uc001hhd.3	+	1	181	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	CAMK1G_uc001hhf.4_Missense_Mutation_p.E27K|CAMK1G_uc001hhe.3_Missense_Mutation_p.E27K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	27	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CATTTTTATGGAAGTGCTGGG	0.517000														24			21		0	0	0.003330	0	0
SCN11A	11280	broad.mit.edu	37	3	38945371	38945371	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38945371C>T	uc021wvy.1	-	11	2026	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	609					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)	TCCCTATATTCAACATCTTCT	0.348000														6			19		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179578871	179578871	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179578871G>A	uc021vsy.1	-	88	23007	c.22782C>T	c.(22780-22782)tcC>tcT	p.S7594S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S4255S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8521	Ig-like 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTTTTATGGATTCTGGCT	0.378000														18			14		0	0	0.002450	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747382	64747382	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:64747382G>A	uc003jtp.3	-	6	1807	c.993C>T	c.(991-993)tcC>tcT	p.S331S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	331	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGGAGAGAATGGATTTCTGCC	0.418000														31			15		0	0	0.003163	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576755	4576755	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:4576755C>T	uc003zij.2	+	9	1438	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	395					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GGCAGATCATCACCATCAGGT	0.488000														48			13		0	0	0.002450	0	0
ATP13A2	23400	broad.mit.edu	37	1	17326935	17326935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:17326935G>A	uc001baa.2	-	8	990	c.800C>T	c.(799-801)tCc>tTc	p.S267F	ATP13A2_uc001bac.2_Missense_Mutation_p.S262F|ATP13A2_uc001bab.2_Missense_Mutation_p.S262F|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'UTR	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	267					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGAGATGGAGGAAATGAGGAA	0.607000														10			17		0	0	0.004990	0	0
LRP4	4038	broad.mit.edu	37	11	46897155	46897155	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:46897155G>A	uc001ndn.4	-	26	4020	c.3777C>T	c.(3775-3777)acC>acT	p.T1259T		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1259					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCGAGCAGGGTGAGGCCAT	0.572000														18			7		0	0	0.003080	0	0
SLC4A5	57835	broad.mit.edu	37	2	74480220	74480220	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:74480220C>T	uc002sko.1	-	9	1151	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.R383R|SLC4A5_uc010ffc.1_Silent_p.R383R|SLC4A5_uc002skp.1_Silent_p.R319R|SLC4A5_uc002sks.1_Silent_p.R383R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	383						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCAGATCTTCCCGATTGCGGG	0.517000														32			17		0	0	0.006122	0	0
SRRT	51593	broad.mit.edu	37	7	100484782	100484782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100484782C>T	uc003uwy.2	+	14	2203	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	SRRT_uc010lhl.1_Missense_Mutation_p.R645W|SRRT_uc003uxa.2_Missense_Mutation_p.R645W|SRRT_uc003uwz.2_Missense_Mutation_p.R646W	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	646					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CATCCACGTTCGGGGGCCCAT	0.602000														151			22		0	0	0.003954	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175270	156175270	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:156175270A>G	uc003far.2	+	3	450	c.386A>G	c.(385-387)tAt>tGt	p.Y129C	KCNAB1_uc011bon.1_Missense_Mutation_p.Y129C|KCNAB1_uc003fas.2_Missense_Mutation_p.Y118C|KCNAB1_uc003fat.2_Missense_Mutation_p.Y111C|KCNAB1_uc010hvt.1_Missense_Mutation_p.Y111C|KCNAB1_uc011boo.1_Missense_Mutation_p.Y5C	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	129						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCATCGCCTATGAAAGTGGT	0.463000														39			61		0	0	0.003610	0	0
NSUN6	221078	broad.mit.edu	37	10	18840768	18840768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:18840768C>T	uc010qcp.1	-	8	1473	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	352							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GAAGAGTTTTCGCTGTAATGG	0.433000														26			6		0	0	0.001984	0	0
FLNC	2318	broad.mit.edu	37	7	128486097	128486097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128486097G>A	uc003vnz.4	+	21	4053	c.3844G>A	c.(3844-3846)Gcc>Acc	p.A1282T	FLNC_uc003voa.4_Missense_Mutation_p.A1282T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1282					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCCCTAACAGCCACAGGCGG	0.627000														14			28		0	0	0.002096	0	0
CEP350	9857	broad.mit.edu	37	1	180031373	180031373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:180031373C>T	uc001gnt.3	+	25	5664	c.5281C>T	c.(5281-5283)Caa>Taa	p.Q1761*	CEP350_uc009wxl.2_Nonsense_Mutation_p.Q1760*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1761						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAACGTCTTCAAGAAGCCAA	0.383000														10			7		0	0	0.001984	0	0
TRAT1	50852	broad.mit.edu	37	3	108565935	108565935	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108565935A>G	uc003dxi.1	+	3	317	c.173A>G	c.(172-174)gAa>gGa	p.E58G	TRAT1_uc010hpx.1_Missense_Mutation_p.E21G	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	58					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TATTATATTGAAGACACACCA	0.269000														41			10		0	0	0.001855	0	0
PELP1	27043	broad.mit.edu	37	17	4577955	4577955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:4577955G>A	uc002fyi.4	-	12	1658	c.1432C>T	c.(1432-1434)Ccg>Tcg	p.P478S	PELP1_uc010vsf.2_Missense_Mutation_p.P331S	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	478					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCCCCGCGGGCTACGCAGC	0.582000														4			12		0	0	0.001855	0	0
ANKRD5	63926	broad.mit.edu	37	20	10025188	10025188	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:10025188C>T	uc002wno.3	+	4	1086	c.693C>T	c.(691-693)ttC>ttT	p.F231F	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F231F|ANKRD5_uc010gbz.3_Silent_p.F42F	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	231							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GAGGCTTTTTCGATGTAATAA	0.358000														69			47		0	0	0.003610	0	0
HUWE1	10075	broad.mit.edu	37	X	53619423	53619423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:53619423C>T	uc004dsp.3	-	32	4309	c.3907G>A	c.(3907-3909)Gat>Aat	p.D1303N	HUWE1_uc004dsn.3_Missense_Mutation_p.D128N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1303					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCCCTGTATCCTCTTCTCCT	0.562000														68			24		0	0	0.006320	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														48			22		0	0	0.003330	0	0
PDE6A	5145	broad.mit.edu	37	5	149278955	149278955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:149278955C>T	uc003lrg.4	-	8	1366	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	PDE6A_uc021yfs.1_Missense_Mutation_p.D335N	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	416	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCGTCTCATCCATTTCATCA	0.468000														26			30		0	0	0.001786	0	0
MBNL2	10150	broad.mit.edu	37	13	98009744	98009744	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:98009744C>T	uc010aft.3	+	5	1629	c.813C>T	c.(811-813)ccC>ccT	p.P271P	MBNL2_uc001vmz.3_Silent_p.P271P|MBNL2_uc001vna.3_Silent_p.P271P|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Silent_p.P116P|MBNL2_uc001vnc.3_Silent_p.P4P	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	271					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AGGCCTTTCCCCCTGGTGCTC	0.428000														12			17		0	0	0.006122	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469966	52469966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52469966G>A	uc003dea.1	-	15	2002	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	668	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity	p.V667V(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGAGCCAGGCGGACCACAGTC	0.657000														33			54		0	0	0.003610	0	0
FAM47C	442444	broad.mit.edu	37	X	37029438	37029438	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37029438C>T	uc004ddl.2	+	0	3007	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	985										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTAAGGATTTCATTCTAAGCA	0.448000														45			51		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168100225	168100225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:168100225G>A	uc002udx.3	+	8	2412	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E600K|XIRP2_uc010fpq.3_Missense_Mutation_p.E553K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	600					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						GTGGATGTTTGAAACACAGCC	0.403000														12			13		0	0	0.003163	0	0
HSPG2	3339	broad.mit.edu	37	1	22206620	22206620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:22206620G>A	uc009vqd.3	-	16	2366	c.2326C>T	c.(2326-2328)Cct>Tct	p.P776S	HSPG2_uc001bfj.3_Missense_Mutation_p.P775S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	775	Laminin EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCATACACAGGGTCACAGGAG	0.557000														57			11		0	0	0.000978	0	0
CDH12	1010	broad.mit.edu	37	5	21854813	21854813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:21854813C>T	uc010iuc.2	-	3	1071	c.613G>A	c.(613-615)Gga>Aga	p.G205R	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.G205R	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G205R(2)|p.Q204H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAAGGTTGTCCCTGAAGAATG	0.393000										HNSCC(59;0.17)				13			10		0	0	0.006214	0	0
OR4C6	219432	broad.mit.edu	37	11	55432975	55432975	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55432975C>T	uc010rik.2	+	0	333	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGGGATCATCCTCCTCACTG	0.537000														12			10		0	0	0.006214	0	0
GHRH	2691	broad.mit.edu	37	20	35882719	35882719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:35882719C>T	uc002xgr.3	-	2	221	c.202G>A	c.(202-204)Gag>Aag	p.E68K	GHRH_uc021wdc.1_Missense_Mutation_p.E68K|GHRH_uc002xgt.3_Missense_Mutation_p.E68K|GHRH_uc002xgs.3_Missense_Mutation_p.E68K	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	68					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				GCTCCTCGCTCTTGGTTGCTC	0.493000														150			86		0	0	0.003610	0	0
ITGA1	3672	broad.mit.edu	37	5	52160651	52160651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:52160651C>T	uc003jou.3	+	3	764	c.350C>T	c.(349-351)tCa>tTa	p.S117L	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	117					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACATTTGGATCAACTTTAGTC	0.323000														14			12		0	0	0.001368	0	0
AMELX	265	broad.mit.edu	37	X	11316691	11316691	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:11316691C>T	uc004cus.3	+	5	278	c.210C>T	c.(208-210)ccC>ccT	p.P70P	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Silent_p.P56P|AMELX_uc004cuu.3_Silent_p.P40P	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	56					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GTTACGAGCCCATGGGTGGAT	0.567000														69			25		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9071467	9071467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9071467G>A	uc002mkp.3	-	2	16183	c.15979C>T	c.(15979-15981)Ccc>Tcc	p.P5327S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5329	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						TCCACAGGGGGAGTTGTCATC	0.542000														34			4		0	0	0.000248	0	0
PRG4	10216	broad.mit.edu	37	1	186273345	186273345	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:186273345A>G	uc001gru.4	+	4	476	c.425A>G	c.(424-426)aAg>aGg	p.K142R	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.K101R|PRG4_uc009wyl.3_Intron|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	142					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACCAAACAAGAAGAAGACT	0.393000														20			20		0	0	0.001882	0	0
C1orf150	148823	broad.mit.edu	37	1	247737515	247737515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:247737515C>T	uc001idf.3	+	4	386	c.239C>T	c.(238-240)tCc>tTc	p.S80F	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	80										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATCAGAGATCCTCCCTGAGC	0.443000														40			14		0	0	0.001855	0	0
EPHB2	2048	broad.mit.edu	37	1	23239983	23239983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:23239983G>A	uc009vqj.1	+	15	3026	c.2881G>A	c.(2881-2883)Gct>Act	p.A961T	EPHB2_uc001bge.3_Missense_Mutation_p.A962T|EPHB2_uc001bgf.3_Missense_Mutation_p.A961T|EPHB2_uc010odu.2_Missense_Mutation_p.A903T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	961	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGTCACTTTGGCTGGCCACCA	0.542000														22			15		0	0	0.003163	0	0
CCDC43	124808	broad.mit.edu	37	17	42759460	42759460	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:42759460G>A	uc002ihc.2	-	2	383	c.339C>T	c.(337-339)atC>atT	p.I113I	CCDC43_uc021tye.1_5'Flank|CCDC43_uc010czw.1_Silent_p.I113I	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN	Homo sapiens coiled-coil domain containing 43 (CCDC43), transcript variant 1, mRNA.	113										lung(2)	2		Prostate(33;0.0322)				GCTTTACTACGATTTGTGCCT	0.483000														14			113		0	0	0.003610	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735228	31735228	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:31735228C>T	uc003tcl.3	+	2	554	c.228C>T	c.(226-228)ttC>ttT	p.F76F	PPP1R17_uc011kaf.2_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 17 (PPP1R17), transcript variant 1, mRNA.	76					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TCCCACCTTTCATACCAGGTA	0.443000														63			15		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9069690	9069690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9069690G>A	uc002mkp.3	-	2	17960	c.17756C>T	c.(17755-17757)cCc>cTc	p.P5919L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5921	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						TTCCACAGAGGGAGGGCTTTG	0.498000														40			12		0	0	0.001368	0	0
KDM4E	390245	broad.mit.edu	37	11	94759484	94759484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:94759484G>A	uc010ruf.1	+	0	1063	c.763G>A	c.(763-765)Ggg>Agg	p.G255R		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.	255	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CAAGGAAAATGGGATTCCCTT	0.557000														8			4		0	0	0.000248	0	0
CASR	846	broad.mit.edu	37	3	122003859	122003859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:122003859G>A	uc003eew.4	+	6	3526	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CASR_uc003eev.4_Missense_Mutation_p.E1020K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1020					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGTGCGGGGAAACGGACTT	0.602000														46			18		0	0	0.001216	0	0
DNAH9	1770	broad.mit.edu	37	17	11778370	11778370	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11778370C>T	uc002gne.3	+	52	10415	c.10347C>T	c.(10345-10347)tcC>tcT	p.S3449S	DNAH9_uc010coo.3_Silent_p.S2743S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3449	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGCATGTCCGTGGAGAATG	0.557000														24			29		0	0	0.005443	0	0
TRIM8	81603	broad.mit.edu	37	10	104416142	104416142	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:104416142G>A	uc001kvz.2	+	5	1171	c.1048_splice	c.e5+1	p.G350_splice		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	350						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AATGCTAGAAGGTGAGGGTGG	0.602000														17			3		0	0	0.004672	0	0
APC2	10297	broad.mit.edu	37	19	1466440	1466440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:1466440C>T	uc002lsr.1	+	14	3348	c.3140C>T	c.(3139-3141)cCg>cTg	p.P1047L	APC2_uc002lss.1_Missense_Mutation_p.P629L|APC2_uc002lst.1_Missense_Mutation_p.P1047L|APC2_uc002lsu.1_Missense_Mutation_p.P1046L|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1047					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTGCCCCGCTGTCTGTG	0.697000														10			11		0	0	0.002450	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825817	64825817	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64825817C>T	uc001ocn.3	-	0	193	c.177G>A	c.(175-177)gaG>gaA	p.E59E	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	59					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						ACCTGAGGTTCTCCCGGATCC	0.637000														27			6		0	0	0.001984	0	0
CD1A	909	broad.mit.edu	37	1	158225874	158225874	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158225874C>T	uc001frt.3	+	2	939	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	136					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTTAGCTTATCAAGGATCAGA	0.458000														19			33		0	0	0.002836	0	0
RASAL1	8437	broad.mit.edu	37	12	113543632	113543632	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:113543632G>A	uc001tun.2	-	16	2021	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	RASAL1_uc010syp.2_Silent_p.L573L|RASAL1_uc001tul.3_Silent_p.L572L|RASAL1_uc001tum.2_Silent_p.L572L|RASAL1_uc010syq.2_Silent_p.L573L|RASAL1_uc001tuo.4_Silent_p.L573L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	572	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGCTTCAGCAGATAGCCTTCT	0.632000														69			29		0	0	0.001786	0	0
PCLO	27445	broad.mit.edu	37	7	82508685	82508685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82508685C>T	uc003uhx.2	-	9	13911	c.13622G>A	c.(13621-13623)gGa>gAa	p.G4541E	PCLO_uc003uhv.2_Missense_Mutation_p.G4541E|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCGCACTTCCCCCAGGAAG	0.358000														5			15		0	0	0.004990	0	0
DDX60L	91351	broad.mit.edu	37	4	169315626	169315626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:169315626C>T	uc021xuh.1	-	26	3910	c.3800G>A	c.(3799-3801)gGg>gAg	p.G1267E	DDX60L_uc003irq.4_Missense_Mutation_p.G1267E|DDX60L_uc003irr.1_Missense_Mutation_p.G1268E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1267	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTAATAAGCCCTTTTACAAA	0.328000														12			8		0	0	0.004482	0	0
ABCC9	10060	broad.mit.edu	37	12	22089541	22089541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:22089541G>A	uc001rfh.3	-	0	88	c.68C>T	c.(67-69)tCc>tTc	p.S23F	ABCC9_uc001rfi.1_Missense_Mutation_p.S23F|ABCC9_uc001rfk.3_Missense_Mutation_p.S23F|ABCC9_uc001rfl.1_Missense_Mutation_p.S23F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	23					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CACAAAGCAGGAATTTTGTAG	0.338000														4			30		0	0	0.001512	0	0
BNC1	646	broad.mit.edu	37	15	83932634	83932634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:83932634G>A	uc002bjt.1	-	3	1457	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	BNC1_uc010uos.1_Missense_Mutation_p.P445S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	457					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTGAACCAGGGTAGCTGGGA	0.542000														17			47		0	0	0.003610	0	0
TPR	7175	broad.mit.edu	37	1	186287896	186287896	+	Silent	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:186287896A>C	uc001grv.3	-	46	6930	c.6633T>G	c.(6631-6633)gtT>gtG	p.V2211V	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2211					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GAGTAGTGGGAACACTTCGGC	0.408000			T	NTRK1	papillary thyroid									37			58		0	0	0.003610	0	0
FMO4	2329	broad.mit.edu	37	1	171292228	171292228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:171292228C>T	uc001gho.3	+	3	435	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	73					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGTGACTTCCCTTTCCACGAA	0.388000														13			19		0	0	0.001523	0	0
LRP10	26020	broad.mit.edu	37	14	23346293	23346293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:23346293C>T	uc001whd.3	+	6	2252	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	567	Arg-rich.				endocytosis	coated pit|integral to membrane		p.P567S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGGCTTGCTCCCTCGAACCAA	0.687000														32			39		0	0	0.002222	0	0
CFH	3075	broad.mit.edu	37	1	196874340	196874340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196874340G>A	uc001gtp.3	+	2	496	c.359G>A	c.(358-360)gGa>gAa	p.G120E	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G119E|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	480	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTAAACCAGGATATGCAACA	0.303000														33			9		0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82764940	82764940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82764940C>T	uc003uhx.2	-	2	2215	c.1926G>A	c.(1924-1926)atG>atA	p.M642I	PCLO_uc003uhv.2_Missense_Mutation_p.M642I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	588	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGCTCTTTTCATTTGACAGT	0.413000														2			9		0	0	0.004482	0	0
MYO5C	55930	broad.mit.edu	37	15	52498066	52498066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:52498066C>T	uc010bff.3	-	36	4646	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1495	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATGATATATTCGTATAGCCAC	0.303000														22			21		0	0	0.001882	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684294	75684294	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:75684294G>A	uc010oqz.1	-	15	1593	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	SLC44A5_uc001dgt.2_Silent_p.F470F|SLC44A5_uc001dgs.2_Silent_p.F428F|SLC44A5_uc001dgr.2_Silent_p.F428F|SLC44A5_uc001dgu.3_Silent_p.F470F|SLC44A5_uc010ora.2_Silent_p.F464F|SLC44A5_uc010orb.2_Silent_p.F340F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	470						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGCAATGACGAAGTTTATAA	0.418000														35			14		0	0	0.004007	0	0
AATK	9625	broad.mit.edu	37	17	79095360	79095360	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79095360G>A	uc010dia.3	-	10	2456	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Silent_p.P689P	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	792	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGGCAGGCGGGGTCCGGTAG	0.692000														19			12		0	0	0.002450	0	0
SFN	2810	broad.mit.edu	37	1	27190040	27190040	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:27190040G>A	uc010ofi.1	-	0		c.410C>T			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.D113N			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GGAGGCCGGGGACGCCGAGAG	0.632000														21			29		0	0	0.001512	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118535	118535	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000205.1:118535G>A	uc002kgk.4	+	0		c.1913G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGAAAAATAGATAATCTAAG	0.408000														34			7		0	0	0.001984	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50513569	50513569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:50513569C>T	uc003daq.3	-	1	306	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	CACNA2D2_uc003dap.3_Missense_Mutation_p.G90S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	90					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTGGACGCCTCCAAAAATC	0.602000														10			4		0	0	0.000248	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47979585	47979585	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:47979585G>A	uc022bvt.1	+	7		c.803G>A				NM_001205103		B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										TATAGCAAGTGAAAGCAAGTG	0.488000														3			8		0	0	0.003080	0	0
C4orf32	132720	broad.mit.edu	37	4	113107979	113107979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:113107979G>A	uc003iah.2	+	1	468	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	C4orf32_uc003iai.3_Non-coding_Transcript	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN	Homo sapiens chromosome 4 open reading frame 32 (C4orf32), mRNA.	95						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTGGAGAACGAATAGTGGAA	0.413000														40			44		0	0	0.003610	0	0
DYM	54808	broad.mit.edu	37	18	46860172	46860172	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:46860172G>A	uc002ldi.1	-	6	911	c.546C>T	c.(544-546)ttC>ttT	p.F182F	DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_Silent_p.F4F	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	182						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGCAGGAAAGGAAAACAACCA	0.358000														10			22		0	0	0.002299	0	0
TFPI2	7980	broad.mit.edu	37	7	93519937	93519937	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:93519937C>T	uc003umy.1	-	0	129	c.54G>A	c.(52-54)gaG>gaA	p.E18E	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.E18E|TFPI2_uc003una.1_Silent_p.E18E	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	18					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CCAGTGCAGCCTCCGTCAGGA	0.701000														43			8		0	0	0.004482	0	0
ZNF430	80264	broad.mit.edu	37	19	21240360	21240360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:21240360C>T	uc002npj.3	+	4	1427	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F	ZNF430_uc002npk.3_Missense_Mutation_p.L415F	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTCCTCGACCCTTACTAAACA	0.353000														17			8		0	0	0.004482	0	0
KSR2	283455	broad.mit.edu	37	12	117909112	117909112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:117909112C>T	uc001two.2	-	17	2564	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	866	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGTGGAGTTCATACCAGATT	0.517000														5			19		0	0	0.004656	0	0
PRKD2	25865	broad.mit.edu	37	19	47214236	47214236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:47214236G>A	uc002pfh.3	-	3	781	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PRKD2_uc002pfg.3_5'UTR|PRKD2_uc002pfi.3_Missense_Mutation_p.R147W|PRKD2_uc002pfj.3_Missense_Mutation_p.R147W|PRKD2_uc010xye.2_Missense_Mutation_p.R147W|PRKD2_uc002pfk.3_5'UTR|MIR320E_uc021uwi.1_5'Flank	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	147					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)		GCAGGCGCCCGATAGGAGTGC	0.647000														8			3		0	0	0.004672	0	0
PNMA3	29944	broad.mit.edu	37	X	152226767	152226767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:152226767C>T	uc022cho.1	+	0	1355	c.1355C>T	c.(1354-1356)gCt>gTt	p.A452V	PNMA3_uc004fhc.2_Missense_Mutation_p.A452V|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	452					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAACTGGGCTTGGGACAAG	0.537000														60			65		0	0	0.003610	0	0
IPO5	3843	broad.mit.edu	37	13	98671844	98671844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:98671844C>T	uc001vne.3	+	26	3080	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	949					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGCACTTCCCCTGCTGGTA	0.353000														2			9		0	0	0.004482	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960250	117960250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:117960250C>T	uc004equ.3	+	3	1516	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ZCCHC12_uc022cdh.1_Missense_Mutation_p.S348L	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATCCGCTGTTCGTATTGTGGT	0.502000														44			22		0	0	0.001882	0	0
LAMP3	27074	broad.mit.edu	37	3	182871618	182871618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:182871618G>A	uc003flh.4	-	1	835	c.611C>T	c.(610-612)aCa>aTa	p.T204I		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	204	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTGCAGCTGTGCGGGTGGT	0.552000														51			82		0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:52321411G>A	uc003xqu.4	-	16	2874	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000														27			10		0	0	0.006214	0	0
NIPAL2	79815	broad.mit.edu	37	8	99217347	99217347	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:99217347G>A	uc003yim.1	-	6	1039	c.783C>T	c.(781-783)ttC>ttT	p.F261F	NIPAL2_uc011lgw.1_Silent_p.F57F|NIPAL2_uc003yil.1_Silent_p.F261F			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	261						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						ACTTGACTTGGAAAACACAAG	0.363000														37			7		0	0	0.001984	0	0
C8B	732	broad.mit.edu	37	1	57399065	57399065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57399065C>T	uc001cyp.3	-	9	1562	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	C8B_uc010oon.2_Missense_Mutation_p.E437K|C8B_uc010ooo.2_Missense_Mutation_p.E447K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	499	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.E499K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAACTAACTTCCTTCTGGAAC	0.527000														22			29		0	0	0.007291	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3644155	3644155	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3644155G>A	uc002lyj.2	-	11	1529	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	PIP5K1C_uc010xhq.2_Silent_p.I480I|PIP5K1C_uc010xhr.2_Silent_p.I480I	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	480					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCTCGCTAGGGATCTGGCTGG	0.697000														60			12		0	0	0.001368	0	0
C12orf63	374467	broad.mit.edu	37	12	97137822	97137822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:97137822G>A	uc021rcc.1	+	21	2935	c.2857G>A	c.(2857-2859)Gaa>Aaa	p.E953K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	953								p.E953K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAAACAATTGAATTTCGTTC	0.308000														7			18		0	0	0.006122	0	0
ZNF878	729747	broad.mit.edu	37	19	12154888	12154888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12154888C>T	uc021upl.1	-	3	1494	c.1328G>A	c.(1327-1329)aGg>aAg	p.R443K	ZNF878_uc002mta.1_Missense_Mutation_p.R490K	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTGAGTCCTTTCATGCAT	0.403000														43			6		0	0	0.001984	0	0
TUB	7275	broad.mit.edu	37	11	8117065	8117065	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:8117065C>T	uc001mga.3	+	4	567	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	TUB_uc010rbk.2_Silent_p.L146L|TUB_uc001mfy.3_Silent_p.L195L	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	140					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCCAGCAGCACTGGCAGAAGA	0.642000														21			19		0	0	0.003330	0	0
FAM120C	54954	broad.mit.edu	37	X	54107815	54107815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54107815G>A	uc004dsz.4	-	13	3001	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F	FAM120C_uc011moh.2_Missense_Mutation_p.P836S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	973										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCCCTGGAGGATCTGCTGCC	0.552000														42			15		0	0	0.004990	0	0
VCL	7414	broad.mit.edu	37	10	75854195	75854195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:75854195C>T	uc001jwd.3	+	10	1613	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	VCL_uc009xrr.3_Missense_Mutation_p.P256S|VCL_uc010qky.1_Missense_Mutation_p.P414S|VCL_uc001jwe.3_Missense_Mutation_p.P507S|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	507	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GATTGATAATCCCACAGTGGA	0.517000														10			16		0	0	0.004007	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393932	233393932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233393932G>A	uc001hvl.2	-	4	1911	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	559						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCAGATTTGGAAGTTGGCAT	0.438000														17			18		0	0	0.004990	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101771	135101771	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:135101771G>A	uc010qvc.1	-	11	2025	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	TUBGCP2_uc001lmf.1_Silent_p.F121F|TUBGCP2_uc001lmg.1_Silent_p.F528F|TUBGCP2_uc010qvd.1_Silent_p.F398F|TUBGCP2_uc009ybk.1_Silent_p.F528F|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	528					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGAAGTGCACGAAGAAGTCGC	0.677000														13			32		0	0	0.001786	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704940	23704940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:23704940G>A	uc003zpu.3	-	3	738	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ELAVL2_uc003zps.3_Missense_Mutation_p.R155C|ELAVL2_uc003zpt.3_Missense_Mutation_p.R155C|ELAVL2_uc003zpv.3_Missense_Mutation_p.R155C|ELAVL2_uc003zpw.3_Missense_Mutation_p.R155C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	155	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACAAGAATACGAGAAGTAATA	0.418000														15			50		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113649119	113649119	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:113649119C>T	uc003ynu.3	-	21	3801	c.3642G>A	c.(3640-3642)ctG>ctA	p.L1214L	CSMD3_uc003yns.3_Silent_p.L486L|CSMD3_uc003ynt.3_Silent_p.L1174L|CSMD3_uc011lhx.2_Silent_p.L1110L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1214	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTTCCTTCCAGTCGATAAC	0.507000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				12			19		0	0	0.006122	0	0
MED12L	116931	broad.mit.edu	37	3	150911370	150911370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:150911370G>A	uc003eyp.3	+	13	2191	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MED12L_uc011bnz.2_Missense_Mutation_p.E548K|MED12L_uc003eyn.3_Missense_Mutation_p.E723K|MED12L_uc003eyo.3_Missense_Mutation_p.E688K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	688					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGAAGAGGGAAAAGCCAAG	0.408000														55			15		0	0	0.002450	0	0
ARPP21	10777	broad.mit.edu	37	7	38279703	38279703	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:38279703C>T	uc022aby.1	-	5	761	c.354G>A	c.(352-354)aaG>aaA	p.K118K	ARPP21_uc003tfu.3_Silent_p.K102K|ARPP21_uc003tfv.3_Silent_p.K102K	NM_001003806	NP_001003806	Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGACCACACTCTTGAGGAGCA	0.453000														25			6		0	0	0.004482	0	0
OR6C6	283365	broad.mit.edu	37	12	55688987	55688987	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55688987G>A	uc010sph.2	-	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTAGGAGAATGAACTCTATTT	0.323000														6			20		0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100676630	100676630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100676630G>A	uc003uxp.1	+	2	1986	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	645	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483000														62			173		0	0	0.003610	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053899	67053899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:67053899C>T	uc003dmy.3	+	2	561	c.508C>T	c.(508-510)Cga>Tga	p.R170*	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	170	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ACTCGGAGATCGATCAAAAGA	0.378000														46			13		0	0	0.001855	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541923	112541923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:112541923G>A	uc002thi.3	-	40	5219	c.4972C>T	c.(4972-4974)Cca>Tca	p.P1658S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1658					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGAGTTCTGGAAGAAGGGTA	0.438000														90			21		0	0	0.007291	0	0
HBD	3045	broad.mit.edu	37	11	5255402	5255402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5255402G>A	uc001maf.1	-	1	329	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	45					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCCCAAAGGACTCAAAGAA	0.527000														22			16		0	0	0.004990	0	0
ZAN	7455	broad.mit.edu	37	7	100377269	100377269	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100377269C>T	uc003uwj.3	+	35	6681	c.6516C>T	c.(6514-6516)ttC>ttT	p.F2172F	ZAN_uc003uwk.3_Silent_p.F2172F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2173					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.F2172F(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTGTGAGTTCGGAGGTCTCT	0.652000														0			8		0	0	0.006214	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966347	41966347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:41966347G>A	uc010skn.2	+	9	1774	c.1766G>A	c.(1765-1767)gGg>gAg	p.G589E	PDZRN4_uc001rmq.4_Missense_Mutation_p.G331E|PDZRN4_uc009zjz.3_Missense_Mutation_p.G329E|PDZRN4_uc001rmr.3_Missense_Mutation_p.G216E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	589							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGACCTGGGGCAGAGCCAA	0.498000														2			26		0	0	0.003330	0	0
FMR1	2332	broad.mit.edu	37	X	147024747	147024747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:147024747G>A	uc010nst.3	+	13	1601	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	FMR1_uc004fcj.3_Missense_Mutation_p.E435K|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Intron|FMR1_uc004fck.4_Missense_Mutation_p.E437K|FMR1_uc022cge.1_Missense_Mutation_p.E437K|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Intron|FMR1_uc004fcl.4_Missense_Mutation_p.E298K|FMR1_uc011mxa.2_Missense_Mutation_p.E105K	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	458	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TACAGATAAGGAAAAAAGCTA	0.463000									Fragile X syndrome					73			28		0	0	0.006320	0	0
GPR12	2835	broad.mit.edu	37	13	27333418	27333418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:27333418G>A	uc021rhk.1	-	0	547	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GPR12_uc010aal.3_Nonsense_Mutation_p.R183*|GPR12_uc010tdl.2_Nonsense_Mutation_p.R24*	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	183						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GACTCGTCTCGGAGGCAGTTC	0.597000														25			11		0	0	0.000673	0	0
RP1	6101	broad.mit.edu	37	8	55534795	55534795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:55534795G>A	uc003xsd.1	+	2	882	c.734G>A	c.(733-735)gGg>gAg	p.G245E	RP1_uc011ldy.1_Missense_Mutation_p.G245E	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	245					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGATTACCAGGGATCTCTCAG	0.438000														46			10		0	0	0.000978	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:99012478C>T	uc010fij.3	+	7	998	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CNGA3_uc002syt.3_Missense_Mutation_p.S282F|CNGA3_uc002syu.3_Missense_Mutation_p.S264F			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000														27			14		0	0	0.001855	0	0
RAD17	5884	broad.mit.edu	37	5	68684932	68684932	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:68684932C>T	uc003jwo.3	+	8	1061	c.999C>T	c.(997-999)atC>atT	p.I333I	RAD17_uc003jwg.3_Silent_p.I322I|RAD17_uc003jwi.3_Silent_p.I322I|RAD17_uc003jwh.3_Silent_p.I322I|RAD17_uc003jwj.3_Silent_p.I322I|RAD17_uc003jwk.3_Silent_p.I322I|RAD17_uc003jwl.3_Silent_p.I322I|RAD17_uc003jwm.3_Silent_p.I157I|RAD17_uc003jwn.3_Silent_p.I236I	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	333					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTGGTGATATCAGAAGTGCAA	0.338000								Other conserved DNA damage response genes						15			15		0	0	0.004990	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556325	53556325	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:53556325G>A	uc021onn.1	-	7	1530	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	SLC1A7_uc021onm.1_Silent_p.V323V|SLC1A7_uc001cux.3_5'UTR|SLC1A7_uc001cuy.3_Silent_p.V395V|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	419						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CGTAGTTGTTGACCTGGGCGA	0.642000														12			14		0	0	0.004007	0	0
SPAG1	6674	broad.mit.edu	37	8	101206344	101206344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:101206344C>T	uc003yjh.2	+	9	1030	c.944C>T	c.(943-945)aCc>aTc	p.T315I	SPAG1_uc003yjg.1_Missense_Mutation_p.T315I|SPAG1_uc003yji.2_Missense_Mutation_p.T315I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	315					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTGCAGAAAACCTTGTCAGAG	0.303000														8			12		0	0	0.001855	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923920	105923920	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:105923920G>T	uc001pja.3	-	3	2136	c.1496C>A	c.(1495-1497)gCa>gAa	p.A499E	KBTBD3_uc001pjb.3_Missense_Mutation_p.A499E|KBTBD3_uc009yxm.3_Missense_Mutation_p.A420E	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	495										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AATTAATGTTGCATGAAAAAA	0.348000														7			9		3.09899e-07	4.06919e-07	0.004482	1	0
CREB3L3	84699	broad.mit.edu	37	19	4168438	4168438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4168438G>A	uc002lzl.3	+	5	921	c.805G>A	c.(805-807)Gat>Aat	p.D269N	CREB3L3_uc002lzm.3_Missense_Mutation_p.D259N|CREB3L3_uc010xib.2_Missense_Mutation_p.D258N|CREB3L3_uc010xic.2_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	269					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAATATATCGATGGCCTGGA	0.537000														15			7		0	0	0.001984	0	0
PXDN	7837	broad.mit.edu	37	2	1651961	1651961	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1651961G>A	uc002qxa.3	-	16	3655	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1197					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTTCTCCCGGATCTCAGGGT	0.517000														138			64		0	0	0.003610	0	0
PTGS2	5743	broad.mit.edu	37	1	186648224	186648224	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:186648224G>A	uc001gsb.3	-	2	416	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PTGS2_uc009wyo.3_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	93					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	CATTTCGAAGGAAGGGAATGT	0.338000														34			8		0	0	0.003080	0	0
DPYD	1806	broad.mit.edu	37	1	98039340	98039340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:98039340C>T	uc001drv.3	-	10	1452	c.1315G>A	c.(1315-1317)Ggt>Agt	p.G439S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	439					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAACTGAACCAAAGGCACTG	0.423000														38			9		0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11597718	11597718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11597718C>T	uc002gne.3	+	21	4894	c.4826C>T	c.(4825-4827)tCc>tTc	p.S1609F	DNAH9_uc010coo.3_Missense_Mutation_p.S903F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1609	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCTCTCCTCCTCCGATCTG	0.557000														7			28		0	0	0.004656	0	0
ZNF468	90333	broad.mit.edu	37	19	53352344	53352344	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53352344G>A	uc002qaf.3	-	2	289	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ZNF468_uc002qae.3_5'UTR	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V45I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTCACCCAGGGAGACGAGGT	0.473000														34			71		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179435234	179435234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179435234C>T	uc021vsy.1	-	274	68146	c.67921G>A	c.(67921-67923)Gaa>Aaa	p.E22641K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E16336K|TTN_uc021vta.1_Missense_Mutation_p.E16269K|TTN_uc021vtb.1_Missense_Mutation_p.E16144K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23568	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTCCTTCAGGTGGCCCT	0.438000														16			5		0	0	0.001168	0	0
DNAH10	196385	broad.mit.edu	37	12	124330297	124330297	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124330297C>T	uc001uft.4	+	29	5182	c.5157C>T	c.(5155-5157)atC>atT	p.I1719I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1719	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCGGCAGATCGATGAGTTGG	0.493000														3			47		0	0	0.002852	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852763	47852763	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:47852763G>A	uc003tny.2	-	48	7336	c.7302C>T	c.(7300-7302)ggC>ggT	p.G2434G	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Silent_p.G161G	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2434					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGTCCCACAGCCCCCAGGAC	0.582000														101			60		0	0	0.003610	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092154	151092154	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151092154G>A	uc022cgv.1	+	0	18	c.18G>A	c.(16-18)aaG>aaA	p.K6K	MAGEA4_uc004fez.3_Silent_p.K6K|MAGEA4_uc004ffa.3_Silent_p.K6K|MAGEA4_uc004ffb.3_Silent_p.K6K|MAGEA4_uc022cgu.1_Silent_p.K34K|MAGEA4_uc004ffc.3_Silent_p.K6K|MAGEA4_uc004ffd.3_Silent_p.K6K	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	6							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGCAGAAGAGTCAGCACT	0.607000														27			30		0	0	0.007291	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181695	128181695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:128181695C>T	uc003ekk.1	-	2	2055	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G132R	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	132					protein folding		heat shock protein binding|unfolded protein binding	p.G132R(2)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GAGAAGGCCCCCCTCAGGCCA	0.597000														36			4		0	0	0.000248	0	0
NUPL1	9818	broad.mit.edu	37	13	25882031	25882031	+	Silent	SNP	C	T	T	rs143556359	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:25882031C>T	uc001uqi.3	+	1	441	c.195C>T	c.(193-195)acC>acT	p.T65T	NUPL1_uc001uqg.1_Silent_p.T65T|NUPL1_uc001uqj.3_Silent_p.T65T	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	65	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GTTTTGGAACCGGGCTCTTTG	0.448000														27			32		0	0	0.002096	0	0
SCN8A	6334	broad.mit.edu	37	12	52056817	52056817	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:52056817C>T	uc001ryw.3	+	1	394	c.216C>T	c.(214-216)atC>atT	p.I72I	SCN8A_uc010snl.2_Silent_p.I72I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	72					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACGGGGACATCCCCCAAGGCC	0.557000														32			42		0	0	0.001951	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513907	143513907	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:143513907G>A	uc003evn.3	-	3	678	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	SLC9A9_uc011bnk.2_Nonsense_Mutation_p.Q31*	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	157					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTAAGTTTTGAAAAAAGTGT	0.368000														26			10		0	0	0.006214	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567128	173567128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:173567128G>A	uc001giz.2	-	3	695	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	91					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGAATAAAGTGAAAAACTTGA	0.303000														26			26		0	0	0.003954	0	0
APOB	338	broad.mit.edu	37	2	21230565	21230565	+	Missense_Mutation	SNP	G	A	A	rs146377316		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:21230565G>A	uc002red.3	-	25	9303	c.9175C>T	c.(9175-9177)Cgt>Tgt	p.R3059C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3059					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3059C(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGGAAAACGAACTTTCAAA	0.403000														150			120		0	0	0.003610	0	0
PPEF2	5470	broad.mit.edu	37	4	76794280	76794280	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:76794280C>T	uc003hix.3	-	12	1863	c.1506_splice	c.e12+1	p.K502_splice	PPEF2_uc003hiy.3_Splice_Site|PPEF2_uc003hiz.1_Splice_Site_p.K502_splice	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	502	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCACCCACCTTGCGGTTGT	0.478000														22			13		0	0	0.002450	0	0
RBP4	5950	broad.mit.edu	37	10	95353766	95353766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:95353766C>T	uc001kit.3	-	4	466	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	128					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	GTGTCGTAGTCTGTGTCGACG	0.572000														22			24		0	0	0.003330	0	0
OR4S2	219431	broad.mit.edu	37	11	55418781	55418781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55418781G>A	uc001nhs.1	+	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGACCATCATGAACCGGGAGA	0.428000														3			16		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13901535	13901535	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13901535C>T	uc003jfd.2	-	13	1920	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	626	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCACAAAATCTTTCCAGCGA	0.498000									Kartagener syndrome					14			24		0	0	0.003954	0	0
HTR7	3363	broad.mit.edu	37	10	92502257	92502257	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:92502257C>T	uc001kha.3	-	3	1665	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K	HTR7_uc001kgz.3_Missense_Mutation_p.G442S|HTR7_uc001khb.3_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	474					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAATCATGACCTTTTTTTCTA	0.328000														6			10		0	0	0.001855	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664277	169664277	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:169664277G>A	uc011bpp.2	-	1		c.3526C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TGTTGCACAGGATCTTGTTGT	0.517000														20			32		0	0	0.002096	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:73848969G>A	uc003xzb.3	+	2	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	460					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTTCGCTCGAAGTATGGAA	0.512000														69			25		0	0	0.003954	0	0
SPAG17	200162	broad.mit.edu	37	1	118548083	118548083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:118548083G>A	uc001ehk.2	-	31	4798	c.4730C>T	c.(4729-4731)tCa>tTa	p.S1577L	SPAG17_uc021osr.1_Missense_Mutation_p.S87L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1577						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATAACCTCTGAAGTATGCCT	0.453000														14			35		0	0	0.007835	0	0
LAMA1	284217	broad.mit.edu	37	18	6971974	6971974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:6971974G>A	uc002knm.3	-	47	6875	c.6781C>T	c.(6781-6783)Cct>Tct	p.P2261S	LAMA1_uc010wzj.2_Missense_Mutation_p.P1737S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2261	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P2261A(4)|p.S2260Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCACAGCAGGAGATTTCTAA	0.413000														4			11		0	0	0.001368	0	0
NUP62	23636	broad.mit.edu	37	19	50411880	50411880	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:50411880G>A	uc002prb.3	-	1	1429	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.F395F|NUP62_uc002pqy.3_Silent_p.F395F|NUP62_uc002pra.3_Silent_p.F395F|NUP62_uc002pqz.3_Silent_p.F395F|NUP62_uc002prc.3_Silent_p.F319F|NUP62_uc021uya.1_Silent_p.F395F	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	395					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGACAGGATGAAGTCGAGCT	0.597000														97			26		0	0	0.006320	0	0
CYBB	1536	broad.mit.edu	37	X	37664342	37664343	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37664342_37664343GG>AA	uc004ddr.2	+	9	1296_1297	c.1235_1236GG>AA	c.(1234-1236)ggg>gAA	p.G412E	CYBB_uc011mkf.1_Missense_Mutation_p.G380E|CYBB_uc011mkg.1_Missense_Mutation_p.G145E	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	412					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCAGGGATTGGGGTCACACCCT	0.480000														8			4		0	0	0.004672	0	0
OR52R1	119695	broad.mit.edu	37	11	4825161	4825161	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4825161G>A	uc021qcs.1	-	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCATCACGATGGTCCCCA	0.572000														20			15		0	0	0.002450	0	0
MAST4	375449	broad.mit.edu	37	5	66396273	66396273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:66396273C>T	uc021xzk.1	+	7	1231	c.923C>T	c.(922-924)tCc>tTc	p.S308F	MAST4_uc003jus.3_Missense_Mutation_p.S119F|MAST4_uc003jut.2_Missense_Mutation_p.S119F|MAST4_uc003juu.1_Missense_Mutation_p.S129F|MAST4_uc011cra.1_Missense_Mutation_p.S102F|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Missense_Mutation_p.S114F|MAST4_uc003juw.3_Missense_Mutation_p.S114F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	311						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCATCCTGTTCCTCCCAGGAG	0.418000														17			12		0	0	0.000978	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28280972	28280972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:28280972G>A	uc001bpg.3	+	4	816	c.625G>A	c.(625-627)Gac>Aac	p.D209N	SMPDL3B_uc001bpf.3_Missense_Mutation_p.D209N|SMPDL3B_uc010ofq.2_Missense_Mutation_p.D3N|SMPDL3B_uc010ofr.2_Missense_Mutation_p.D161N	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	209					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGACATGGCGGACCCTGGCCA	0.567000														62			73		0	0	0.003610	0	0
CCDC167	154467	broad.mit.edu	37	6	37450986	37450986	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:37450986G>A	uc003ont.3	-	3	331	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_138493	NP_612502	Q9P0B6	CF129_HUMAN	Homo sapiens coiled-coil domain containing 167 (CCDC167), mRNA.	90						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						AGGCATAGACGAGCGTCAGGA	0.537000														12			49		0	0	0.003610	0	0
SEMG2	6407	broad.mit.edu	37	20	43850423	43850423	+	Silent	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:43850423A>T	uc010ggz.3	+	1	207	c.150A>T	c.(148-150)ggA>ggT	p.G50G	SEMG2_uc002xnk.3_Silent_p.G50G|SEMG2_uc002xnl.3_Silent_p.G50G	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	50					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACTATTTTGGACAAAAAGACC	0.398000														49			38		0	0	0.006230	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862927	67862927	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:67862927C>T	uc009xpn.1	-	13	2088	c.1965G>A	c.(1963-1965)ggG>ggA	p.G655G	CTNNA3_uc001jmw.2_Silent_p.G655G	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	655					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCAGTTTTCCCTTCGGTCT	0.493000														26			11		0	0	0.000978	0	0
ATR	545	broad.mit.edu	37	3	142280112	142280112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:142280112G>A	uc003eux.4	-	4	1444	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	441					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCTCTTTTAGAAGGGTTTAG	0.378000								Other conserved DNA damage response genes						54			14		0	0	0.002450	0	0
OGDHL	55753	broad.mit.edu	37	10	50954808	50954808	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:50954808G>A	uc009xog.3	-	8	1399	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	OGDHL_uc001jie.3_Silent_p.V428V|OGDHL_uc010qgt.2_Silent_p.V371V|OGDHL_uc010qgu.2_Silent_p.V219V|OGDHL_uc009xoh.2_Silent_p.V219V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	428					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V428V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGTTGACGACGACGTGCA	0.597000														25			5		0	0	0.001168	0	0
NRG1	3084	broad.mit.edu	37	8	32621491	32621491	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:32621491C>T	uc003xiv.2	+	11	2011	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	NRG1_uc022ats.1_Silent_p.F448F|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.F503F|NRG1_uc003xiw.2_Silent_p.F495F|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.F240F|NRG1_uc010lvs.2_Silent_p.F240F|NRG1_uc010lvp.2_Silent_p.F452F|NRG1_uc010lvq.2_Silent_p.F428F|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.F341F|NRG1_uc003xja.2_Silent_p.F309F	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	498					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTCAGCAGTTCAGCTCCTTCC	0.557000														12			20		0	0	0.001523	0	0
DSG1	1828	broad.mit.edu	37	18	28923487	28923487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28923487G>A	uc002kwp.3	+	11	1974	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	588					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCCTGTTCCCGAATGTTCAGA	0.488000														11			37		0	0	0.003755	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323993	79323993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:79323993G>A	uc010mpk.3	-	7	3321	c.3197C>T	c.(3196-3198)tCc>tTc	p.S1066F	PRUNE2_uc022bih.1_Missense_Mutation_p.S888F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1066					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCCTCCATGGAGATATTCTT	0.453000														32			30		0	0	0.002836	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175935	207175935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:207175935C>T	uc002vbp.2	+	4	6933	c.6683C>T	c.(6682-6684)tCg>tTg	p.S2228L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGTATATTTCGAAATACTCT	0.358000														15			9		0	0	0.004482	0	0
SPATA8	145946	broad.mit.edu	37	15	97328297	97328297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:97328297C>T	uc002bue.3	+	2	475	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	90										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CCCACTGATTCAGAAGATAAA	0.448000														67			17		0	0	0.004990	0	0
GOLGA4	2803	broad.mit.edu	37	3	37379168	37379169	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37379168_37379169AC>TT	uc003cgv.3	+	18	6699_6700	c.6339_6340AC>TT	c.(6337-6342)gcacag>gcTTag	p.Q2114*	GOLGA4_uc003cgw.3_Nonsense_Mutation_p.Q2129*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.Q1995*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2114					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGCTAGCACAGAAGACGAC	0.371000														11			13		0	0	0.004672	0	0
CCDC108	255101	broad.mit.edu	37	2	219875569	219875569	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:219875569C>T	uc002vjl.1	-	24	4191	c.4107G>A	c.(4105-4107)cgG>cgA	p.R1369R		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1369						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCACAAGACCCGGGCAGTGC	0.567000														17			13		0	0	0.001855	0	0
ANKRD17	26057	broad.mit.edu	37	4	73944492	73944492	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:73944492G>A	uc003hgp.3	-	30	7392	c.7275C>T	c.(7273-7275)gtC>gtT	p.V2425V	ANKRD17_uc003hgo.3_Silent_p.V2312V|ANKRD17_uc003hgq.3_Silent_p.V2174V|ANKRD17_uc003hgr.3_Silent_p.V2424V	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2425					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCCAATAGGGACTGGAACTT	0.502000														19			14		0	0	0.001855	0	0
POTEE	445582	broad.mit.edu	37	2	132021764	132021764	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:132021764C>T	uc002tsn.2	+	14	2788	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.I512I|POTEE_uc002tsl.2_Silent_p.I494I|POTEE_uc010fmy.1_Silent_p.I376I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	912	Actin-like.						ATP binding										TGCGTGACATCAAAGAGAAGC	0.602000														112			24		0	0	0.002836	0	0
TTC21A	199223	broad.mit.edu	37	3	39162532	39162532	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:39162532C>T	uc003cjc.2	+	8	1146	c.969C>T	c.(967-969)atC>atT	p.I323I	TTC21A_uc011ayx.1_Silent_p.I274I|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	323							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GTAGTTTCATCGAGCGCACCT	0.527000														41			19		0	0	0.001216	0	0
MARCH4	57574	broad.mit.edu	37	2	217142558	217142558	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:217142558C>T	uc002vgb.3	-	2	2469	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	234						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCTGAACCTTCTCAATGACCG	0.567000														30			19		0	0	0.001882	0	0
NES	10763	broad.mit.edu	37	1	156641818	156641818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156641818G>A	uc001fpq.3	-	3	2295	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	721	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTCTTCAGTGGCTCCTGGTT	0.448000														71			31		0	0	0.002096	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887175	1887175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:1887175C>T	uc001aim.1	-	17	2287	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E711K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	711										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTCTCCAGCTCCTTCCGGCTC	0.642000														31			41		0	0	0.006999	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806574	100806574	+	Silent	SNP	C	T	T	rs138338989		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:100806574C>T	uc010svi.2	+	9	1526	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SLC17A8_uc009ztx.3_Silent_p.L355L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	405					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.L405M(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AACCTTACTCCTGGTGGTTGG	0.423000														15			65		0	0	0.003610	0	0
NUP155	9631	broad.mit.edu	37	5	37337949	37337949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:37337949G>A	uc003jku.1	-	11	1436	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	NUP155_uc003jkt.1_Missense_Mutation_p.P381S|NUP155_uc010iuz.1_Missense_Mutation_p.P440S	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	440					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTGGAAAGGAAAAGTATCA	0.289000														39			32		0	0	0.004289	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829185	67829185	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:67829185G>A	uc009xpn.1	-	14	2163	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	CTNNA3_uc001jmw.2_Silent_p.F680F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	680					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTACTTTCTTGAAATCAGCAA	0.383000														45			23		0	0	0.004656	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359245	64359245	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64359245C>T	uc001oam.1	+	0	964	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	SLC22A12_uc009ypr.1_Silent_p.L73L|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.L73L|SLC22A12_uc001oan.1_Silent_p.L73L|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	73					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGAGGCCCTCCTGGCTATTTC	0.692000														16			6		0	0	0.001168	0	0
ATF7	11016	broad.mit.edu	37	12	53994769	53994769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:53994769G>A	uc001sdy.3	-	0	37	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.P6S|ATF7_uc010sol.2_Missense_Mutation_p.P6S|ATF7_uc001sea.4_Missense_Mutation_p.P6S|ATF7_uc001seb.4_Missense_Mutation_p.P6S	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	6	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P6P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CACACAAACGGTCTGTCGTCT	0.418000														19			8		0	0	0.000978	0	0
MGAM	8972	broad.mit.edu	37	7	141764221	141764221	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141764221C>T	uc003vwy.3	+	36	4437	c.4383C>T	c.(4381-4383)acC>acT	p.T1461T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1461	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGCAAGACCCTTTGTATGG	0.562000														7			6		0	0	0.003080	0	0
HSPA7	3311	broad.mit.edu	37	1	161576433	161576433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:161576433C>T	uc010pkp.1	+	0	585	c.353C>T	c.(352-354)cCc>cTc	p.P118L						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		ACGTTCTACCCCGAGGAGATC	0.632000														34			12		0	0	0.001855	0	0
ADRB1	153	broad.mit.edu	37	10	115804334	115804334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:115804334C>T	uc001lba.3	+	0	529	c.443C>T	c.(442-444)aCc>aTc	p.T148I		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	148					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	AGCATCGAGACCCTGTGTGTC	0.687000														45			53		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34190255	34190255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:34190255C>T	uc001bxm.1	-	17	2923	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R	CSMD2_uc001bxn.1_Missense_Mutation_p.G876R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	876	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGACGCTGTCCATTTACTGGG	0.542000														30			11		0	0	0.000673	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736244	140736244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140736244G>A	uc003ljq.2	+	0	1477	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.E493K	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTGGCCGAAGACACCTT	0.493000														88			40		0	0	0.005524	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032373	10032373	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:10032373G>A	uc010uym.2	-	3	760	c.450C>T	c.(448-450)tcC>tcT	p.S150S	GRIN2A_uc002czo.4_Silent_p.S150S|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Silent_p.S150S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	150					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S150S(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGCTGGATGGACGCTCCAA	0.488000														24			23		0	0	0.003954	0	0
MUC17	140453	broad.mit.edu	37	7	100683198	100683198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100683198C>T	uc003uxp.1	+	2	8554	c.8501C>T	c.(8500-8502)cCt>cTt	p.P2834L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2834	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACACC	0.493000														105			142		0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167196728	167196728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:167196728C>T	uc003fev.1	-	14	2336	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	WDR49_uc003feu.1_Missense_Mutation_p.E503K|WDR49_uc011bpd.1_Missense_Mutation_p.E643K|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	678										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCTTTTCGTTCATGATGCAGA	0.318000														10			11		0	0	0.000673	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875210	45875210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:45875210G>A	uc010zxy.1	-	13	1929	c.1847C>T	c.(1846-1848)tCg>tTg	p.S616L	ZMYND8_uc010ghq.1_Missense_Mutation_p.S266L|ZMYND8_uc010ghr.1_Missense_Mutation_p.S564L|ZMYND8_uc002xst.1_Missense_Mutation_p.S517L|ZMYND8_uc002xsu.1_Missense_Mutation_p.S589L|ZMYND8_uc002xsv.1_Missense_Mutation_p.S517L|ZMYND8_uc002xsw.1_Missense_Mutation_p.S341L|ZMYND8_uc002xsx.1_Missense_Mutation_p.S341L|ZMYND8_uc002xsy.1_Missense_Mutation_p.S564L|ZMYND8_uc002xsz.1_Missense_Mutation_p.S526L|ZMYND8_uc002xta.1_Missense_Mutation_p.S589L|ZMYND8_uc002xtb.1_Missense_Mutation_p.S609L|ZMYND8_uc002xss.2_Missense_Mutation_p.S589L|ZMYND8_uc010zxz.1_Missense_Mutation_p.S584L|ZMYND8_uc002xtc.1_Missense_Mutation_p.S609L|ZMYND8_uc002xtd.1_Missense_Mutation_p.S584L|ZMYND8_uc002xte.1_Missense_Mutation_p.S589L|ZMYND8_uc010zya.1_Missense_Mutation_p.S589L|ZMYND8_uc002xtf.1_Missense_Mutation_p.S609L|ZMYND8_uc002xtg.3_Missense_Mutation_p.S583L|ZMYND8_uc010ghs.2_Missense_Mutation_p.S583L	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	589							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGAATCCTCCGAATCGCTGTG	0.423000														88			71		0	0	0.003610	0	0
DLG4	1742	broad.mit.edu	37	17	7106564	7106564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:7106564C>T	uc010vtn.2	-	5	670	c.410G>A	c.(409-411)gGg>gAg	p.G137E	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.G194E|DLG4_uc002get.4_Missense_Mutation_p.G240E|DLG4_uc010vto.2_Missense_Mutation_p.G237E|DLG4_uc002geu.3_Missense_Mutation_p.G194E	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	197	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGCAGCACCCCCTTCGATGAT	0.547000														27			27		0	0	0.006320	0	0
OR13C8	138802	broad.mit.edu	37	9	107332173	107332173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:107332173C>T	uc011lvo.2	+	0	725	c.725C>T	c.(724-726)tCa>tTa	p.S242L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCACCTGCTCAGCCCACCTG	0.408000														12			36		0	0	0.004878	0	0
ANK3	288	broad.mit.edu	37	10	61835462	61835462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61835462G>A	uc001jky.3	-	36	5515	c.5177C>T	c.(5176-5178)cCa>cTa	p.P1726L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1726	Ser-rich.			P -> A (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGGATGATGGATATTTTAG	0.423000														17			14		0	0	0.002450	0	0
LAMA5	3911	broad.mit.edu	37	20	60901736	60901736	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:60901736C>T	uc002ycq.3	-	39	5362	c.5295G>A	c.(5293-5295)gtG>gtA	p.V1765V	LAMA5_uc021wfw.1_Silent_p.V1765V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1765	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTCACCTCCACCAGCTGCA	0.647000														40			28		0	0	0.002445	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320734	78320735	+	Missense_Mutation	DNP	AT	CG	CG			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:78320734_78320735AT>CG	uc010thy.1	+	3	553_554	c.510_511AT>CG	c.(508-513)acatgt>acCGgt	p.C171G	SLAIN1_uc001vkk.2_Missense_Mutation_p.C94G|SLAIN1_uc010thz.1_Missense_Mutation_p.C49G|SLAIN1_uc001vkl.1_Missense_Mutation_p.C50G|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Missense_Mutation_p.C50G	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	313										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AAAAAGGGACATGTAGTGATCA	0.406000														13			11		0	0	0.004672	0	0
CHRFAM7A	89832	broad.mit.edu	37	15	30659728	30659728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:30659728G>A	uc001zdt.1	-	8	1179	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Nonsense_Mutation_p.Q114*|CHRFAM7A_uc010azn.2_Nonsense_Mutation_p.Q114*	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	205						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GCGAAGTACTGGGCTGTGGAG	0.627000														30			27		0	0	0.007291	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040026	102040026	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102040026C>T	uc011kkr.1	+	2	292	c.237C>T	c.(235-237)ttC>ttT	p.F79F	PRKRIP1_uc011kkq.1_Silent_p.F22F|PRKRIP1_uc003uzh.2_Silent_p.F79F			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	79	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						GTGGAGAGTTCCACGTGTACA	0.547000														100			25		0	0	0.003954	0	0
PPP1CB	5500	broad.mit.edu	37	2	29001759	29001759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29001759G>A	uc002rmg.3	+	3	429	c.269G>A	c.(268-270)gGa>gAa	p.G90E	PPP1CB_uc010ymj.2_Missense_Mutation_p.G62E|PPP1CB_uc010ymk.2_Missense_Mutation_p.G62E|PPP1CB_uc010yml.2_Missense_Mutation_p.G62E|PPP1CB_uc002rmh.3_Missense_Mutation_p.G90E	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	90					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTTTTCTTAGGAGATTATGTG	0.348000														40			17		0	0	0.004990	0	0
ANKK1	255239	broad.mit.edu	37	11	113268025	113268025	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:113268025G>A	uc001pny.3	+	5	1012	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	306							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCCTGGCCAGGAAGGTGTCCT	0.597000														11			6		0	0	0.001984	0	0
IGSF10	285313	broad.mit.edu	37	3	151166802	151166802	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:151166802G>A	uc011bod.2	-	3	967	c.967C>T	c.(967-969)Cag>Tag	p.Q323*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	323					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCCAGACTGATCTGTCATA	0.433000														55			16		0	0	0.004007	0	0
GRID2	2895	broad.mit.edu	37	4	94411870	94411870	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:94411870T>A	uc011cdt.2	+	11	2197	c.1939T>A	c.(1939-1941)Tct>Act	p.S647T	GRID2_uc011cdu.2_Missense_Mutation_p.S552T	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	647					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGTTATCTCATCTTACACGGC	0.443000														11			8		0	0	0.003080	0	0
NEBL	10529	broad.mit.edu	37	10	21250667	21250667	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:21250667G>A	uc001iqk.3	-	3	645	c.291C>T	c.(289-291)ggC>ggT	p.G97G	NEBL_uc021pnu.1_Silent_p.G97G	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	761					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGATGCTGAAGCCCCTCCCTT	0.463000														36			16		0	0	0.001882	0	0
TRPC7	57113	broad.mit.edu	37	5	135602050	135602050	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:135602050T>C	uc003lbn.2	-	4	1425	c.1203A>G	c.(1201-1203)ttA>ttG	p.L401L	TRPC7_uc010jef.2_Silent_p.L337L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Silent_p.L340L|TRPC7_uc010jei.2_Silent_p.L285L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	401					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACAACTAATAATCCCAAGA	0.408000														17			16		0	0	0.003163	0	0
AL117485	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:18844766G>A	uc002zoe.3	+	3		c.2020G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CAGCCTCTGAGGGCAGCAGTG	0.557000														13			6		0	0	0.003080	0	0
VRTN	55237	broad.mit.edu	37	14	74824458	74824458	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:74824458C>T	uc021rwl.1	+	0	972	c.972C>T	c.(970-972)ttC>ttT	p.F324F	VRTN_uc001xpw.4_Silent_p.F324F	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	324					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGACAGCTTCCACCGGGGGG	0.637000														83			37		0	0	0.003610	0	0
AQP9	366	broad.mit.edu	37	15	58465384	58465384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:58465384C>T	uc002aez.2	+	2	713	c.356C>T	c.(355-357)aCc>aTc	p.T119I	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.T54I	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	119					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.T119T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGGGCTGCAACCGTCTTTGGC	0.468000														112			23		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9076384	9076384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9076384G>A	uc002mkp.3	-	2	11266	c.11062C>T	c.(11062-11064)Cct>Tct	p.P3688S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3689	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						AAAATGTCAGGAACTGAGATG	0.433000														51			13		0	0	0.001855	0	0
EXO1	9156	broad.mit.edu	37	1	242023951	242023951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:242023951C>T	uc021plj.1	+	6	1203	c.889C>T	c.(889-891)Cct>Tct	p.P297S	EXO1_uc001hzh.3_Missense_Mutation_p.P297S|EXO1_uc009xgq.3_Missense_Mutation_p.P297S|EXO1_uc021plk.1_Missense_Mutation_p.P297S	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	297	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAAACTTATTCCTCTGAACGC	0.408000								Editing and processing nucleases						35			29		0	0	0.002445	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682881	50682881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:50682881C>T	uc003bkb.1	-	0	520	c.8G>A	c.(7-9)aGc>aAc	p.S3N	TUBGCP6_uc010har.1_Missense_Mutation_p.S3N|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hau.1_Missense_Mutation_p.S3N	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	3					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGCGTGATGCTGGCCATGCC	0.662000														31			4		0	0	0.000602	0	0
TBPL2	387332	broad.mit.edu	37	14	55902652	55902652	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:55902652C>T	uc001xby.3	-	3	609	c.609_splice	c.e3-1	p.Q203_splice		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	203					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						AAACTATATTCCTGAAGAAAT	0.299000														26			25		0	0	0.006320	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676289	20676289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:20676289G>A	uc001mqd.3	+	15	2542	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	SLC6A5_uc009yic.3_Missense_Mutation_p.D522N	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	757					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCACAGCCGGACTGGGGCCC	0.562000														37			17		0	0	0.004990	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593648	135593648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:135593648G>A	uc004ezw.3	+	9	2166	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	HTATSF1_uc004ezx.3_Missense_Mutation_p.E582K	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	582	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTCTGAAAAGGAGCTTCATGA	0.393000														43			16		0	0	0.003163	0	0
GK2	2712	broad.mit.edu	37	4	80328862	80328862	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:80328862G>A	uc003hlu.3	-	0	511	c.493C>T	c.(493-495)Caa>Taa	p.Q165*		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	165					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGCCTTTTGGACGTTTCTC	0.433000														49			18		0	0	0.006122	0	0
CXorf21	80231	broad.mit.edu	37	X	30578350	30578350	+	Silent	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:30578350A>T	uc022bui.1	-	0	123	c.123T>A	c.(121-123)ctT>ctA	p.L41L	CXorf21_uc004dcg.2_Silent_p.L41L	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	41										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGGAATAGGAAAGGGTAGCAA	0.458000														40			42		0	0	0.002852	0	0
SRCAP	10847	broad.mit.edu	37	16	30750429	30750429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30750429C>T	uc002dze.1	+	33	9453	c.9068C>T	c.(9067-9069)cCc>cTc	p.P3023L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2818L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	3023	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCAGCTCCCCGTCTTGGAC	0.607000														34			37		0	0	0.006230	0	0
ZNF257	113835	broad.mit.edu	37	19	22272020	22272020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:22272020G>A	uc010ecx.3	+	3	1637	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	ZNF257_uc010ecy.3_Missense_Mutation_p.E458K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTACAAATGTGAAGAATGTGG	0.408000														28			5		0	0	0.000602	0	0
C11orf9	745	broad.mit.edu	37	11	61539185	61539185	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:61539185G>A	uc001nsc.1	+	5	1050	c.954G>A	c.(952-954)caG>caA	p.Q318Q	C11orf9_uc001nse.1_Silent_p.Q309Q	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	318	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CCCGTGTCCAGACACCGCCTT	0.692000														48			28		0	0	0.006320	0	0
EMR3	84658	broad.mit.edu	37	19	14752428	14752428	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:14752428C>T	uc002mzi.4	-	10	1199	c.1051_splice	c.e10-1	p.E351_splice	EMR3_uc010dzp.3_Splice_Site_p.E299_splice|EMR3_uc010xnv.2_Splice_Site_p.E225_splice	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	351					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGATCCTCCTCCTGGGACCGA	0.562000														12			18		0	0	0.007413	0	0
GRIA2	2891	broad.mit.edu	37	4	158282238	158282238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:158282238G>A	uc003ipm.4	+	13	2827	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	GRIA2_uc011cit.2_Intron|GRIA2_uc003ipl.4_Intron|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.D100N|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Intron|GRIA2_uc011ciy.1_Intron|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	790					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGGTGGTACGACAAAGGAGA	0.438000														15			8		0	0	0.004482	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794652	124794652	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124794652C>T	uc001qbk.3	-	1	805	c.399G>A	c.(397-399)ggG>ggA	p.G133G	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.G133G	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	133	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGTCTTCTCCCCAGTGAAGG	0.567000														79			35		0	0	0.005524	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196830	72196830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:72196830C>T	uc001xms.3	+	17	5097	c.4736C>T	c.(4735-4737)gCc>gTc	p.A1579V	SIPA1L1_uc001xmt.3_Missense_Mutation_p.A1558V|SIPA1L1_uc001xmu.3_Missense_Mutation_p.A1558V|SIPA1L1_uc001xmv.3_Missense_Mutation_p.A1579V|SIPA1L1_uc010ttm.2_Missense_Mutation_p.A1033V	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1579					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCACGGCGGGCCTTGCACAGA	0.537000														46			11		0	0	0.001368	0	0
ZNF611	81856	broad.mit.edu	37	19	53209718	53209718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53209718G>A	uc002pzz.3	-	6	907	c.590C>T	c.(589-591)tCc>tTc	p.S197F	ZNF611_uc010eqc.3_Missense_Mutation_p.S127F|ZNF611_uc010ydo.2_Missense_Mutation_p.S127F|ZNF611_uc010ydp.2_Missense_Mutation_p.S197F|ZNF611_uc010ydq.2_Missense_Mutation_p.S197F|ZNF611_uc010ydr.2_Missense_Mutation_p.S128F|ZNF611_uc002qaa.4_Missense_Mutation_p.S127F|ZNF611_uc021uyy.1_Missense_Mutation_p.S128F	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I196M(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGGCCTACAGGAAATTCTTTG	0.383000														103			26		0	0	0.004656	0	0
STAP1	26228	broad.mit.edu	37	4	68424559	68424559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:68424559C>T	uc003hde.4	+	0	114	c.32C>T	c.(31-33)cCt>cTt	p.P11L	STAP1_uc003hdf.3_Missense_Mutation_p.P11L	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	11					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAACCAGCCCCTCGCAGGATC	0.443000														44			46		0	0	0.002522	0	0
TRPM1	4308	broad.mit.edu	37	15	31323279	31323279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:31323279G>A	uc021sia.1	-	21	3399	c.3085C>T	c.(3085-3087)Cca>Tca	p.P1029S	TRPM1_uc010azy.3_Missense_Mutation_p.P897S|TRPM1_uc001zfl.3_Intron|TRPM1_uc021shz.1_Missense_Mutation_p.P1012S|TRPM1_uc001zfm.3_Missense_Mutation_p.P990S	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	990					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTCCTCTGGATGCAGAATG	0.488000														70			13		0	0	0.002450	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371860	42371860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:42371860C>T	uc001zox.3	-	12	1287	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	398	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GAAAAGACCTCCAGCTTGCTC	0.662000														13			35		0	0	0.003755	0	0
SALL3	27164	broad.mit.edu	37	18	76754766	76754766	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:76754766G>A	uc002lmt.3	+	1	2775	c.2775G>A	c.(2773-2775)ccG>ccA	p.P925P	SALL3_uc010dra.3_Silent_p.P532P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGGCGCCCCGGAGGAGCCCC	0.756000														2			5		0	0	0.001168	0	0
TMEM74	157753	broad.mit.edu	37	8	109796454	109796454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:109796454C>T	uc003ymy.1	-	1	979	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.E292K	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	292					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.E292*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAGGACAGTTCCAGAGTGTTT	0.403000														16			21		0	0	0.002780	0	0
OTOL1	131149	broad.mit.edu	37	3	161221586	161221586	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:161221586C>T	uc011bpb.2	+	3	1290	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	430	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCTCTCTCCTCGTCATCTTGA	0.488000														17			4		0	0	0.000602	0	0
SORBS2	8470	broad.mit.edu	37	4	186545288	186545288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:186545288G>A	uc003iyg.3	-	12	1657	c.1625C>T	c.(1624-1626)cCg>cTg	p.P542L	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.P528L|SORBS2_uc003iyl.3_Missense_Mutation_p.P428L|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.P332L|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	428						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCGAACCTCCGGGACGTAGGG	0.597000														44			18		0	0	0.001523	0	0
ROCK1	6093	broad.mit.edu	37	18	18629177	18629177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:18629177G>A	uc002kte.3	-	3	1231	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	97	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTCCTGGTGGATTTATGCCT	0.328000														14			39		0	0	0.002522	0	0
C9	735	broad.mit.edu	37	5	39315978	39315978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:39315978C>T	uc003jlv.4	-	5	858	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	257	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAGGCTGTTTCCTCACAACAT	0.313000														46			20		0	0	0.002299	0	0
ACOXL	55289	broad.mit.edu	37	2	111666453	111666453	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:111666453C>T	uc010yxk.1	+	10	1100	c.876C>T	c.(874-876)gcC>gcT	p.A292A	ACOXL_uc021vmm.1_Silent_p.A115A|ACOXL_uc021vmn.1_Silent_p.A115A	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	292					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCCACCTGGCCACAGCCTTGG	0.547000														42			17		0	0	0.004007	0	0
SCN5A	6331	broad.mit.edu	37	3	38595922	38595922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38595922G>A	uc021wvo.1	-	25	4713	c.4661C>T	c.(4660-4662)cCt>cTt	p.P1554L	SCN5A_uc021wvk.1_Missense_Mutation_p.P1553L|SCN5A_uc021wvl.1_Missense_Mutation_p.P1500L|SCN5A_uc021wvm.1_Missense_Mutation_p.P1536L|SCN5A_uc021wvn.1_Missense_Mutation_p.P1553L|SCN5A_uc021wvp.1_Missense_Mutation_p.P1554L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.P1366L|SCN5A_uc021wvi.1_Missense_Mutation_p.P1420L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1554					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATTTTCTCAGGACTTTGGTC	0.478000														83			24		0	0	0.004656	0	0
KCNA5	3741	broad.mit.edu	37	12	5154958	5154958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:5154958G>A	uc001qni.3	+	0	1874	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	549						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCGGGGCTGGACAGAGGAGT	0.637000														6			41		0	0	0.002222	0	0
CRABP1	1381	broad.mit.edu	37	15	78633401	78633401	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:78633401G>A	uc002bdp.2	+	1	192	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_004378	NP_004369	P29762	RABP1_HUMAN	Homo sapiens cellular retinoic acid binding protein 1 (CRABP1), mRNA.	29					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	ACGCCATGCTGAGGAAAGTGG	0.642000														10			18		0	0	0.006122	0	0
OR6C1	390321	broad.mit.edu	37	12	55715062	55715062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55715062C>T	uc010spi.2	+	0	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTGAGAATTCCTTCTACTAG	0.378000														11			40		0	0	0.006230	0	0
PTPRG	5793	broad.mit.edu	37	3	61734583	61734583	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:61734583C>T	uc003dlb.3	+	1	836	c.117C>T	c.(115-117)caC>caT	p.H39H	PTPRG_uc003dlc.3_Silent_p.H39H|PTPRG_uc003dla.4_Non-coding_Transcript	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	39					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H39H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGGCCCTGCACGAGAATAGAC	0.557000														16			14		0	0	0.003163	0	0
NCOR2	9612	broad.mit.edu	37	12	124829403	124829403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124829403G>A	uc021rga.1	-	31	4592	c.4475C>T	c.(4474-4476)cCa>cTa	p.P1492L	NCOR2_uc021rgb.1_Missense_Mutation_p.P1476L|NCOR2_uc010tbb.2_Missense_Mutation_p.P1485L|NCOR2_uc010tbc.2_Missense_Mutation_p.P1475L|NCOR2_uc021rgc.1_Missense_Mutation_p.P1475L|NCOR2_uc010tba.2_Missense_Mutation_p.P1493L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1493					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGCACGGGTGGGAACGTCCG	0.697000														3			3		0	0	0.000248	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530117	140530117	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140530117G>A	uc003lir.3	+	0	279	c.279G>A	c.(277-279)gaG>gaA	p.E93E		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	93	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGGAGGAGCTGTGTGGCT	0.488000														54			25		0	0	0.004656	0	0
CHRM3	1131	broad.mit.edu	37	1	240071162	240071162	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:240071162G>A	uc021plc.1	+	0	411	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CHRM3_uc001hyp.3_Silent_p.G137G	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	137					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGGCCTTAGGGAACTTGGCCT	0.463000														40			23		0	0	0.002780	0	0
SORCS3	22986	broad.mit.edu	37	10	106918722	106918722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:106918722G>A	uc001kyi.1	+	10	1929	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	568						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTAGCAAGGAGACAGCCCC	0.418000														15			9		0	0	0.006214	0	0
GPX5	2880	broad.mit.edu	37	6	28501821	28501821	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:28501821G>A	uc003nll.2	+	4	545	c.543G>A	c.(541-543)tgG>tgA	p.W181*	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	181					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACATCCGTTGGAACTTTGAAA	0.522000														12			91		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107113954	107113954	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:107113954G>A	uc021ser.1	-	96		c.4275C>T								Parts of antibodies, mostly variable regions.																		TACTGAAGGTGAATCCAGAGG	0.547000														183			35		0	0	0.003755	0	0
REG3G	130120	broad.mit.edu	37	2	79255032	79255032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:79255032C>T	uc002snw.3	+	4	518	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	REG3G_uc002snx.3_Missense_Mutation_p.H145Y|REG3G_uc010ffu.3_Missense_Mutation_p.H99Y	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	145	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACCCTGGCCACTGTGGGAG	0.502000														35			30		0	0	0.001512	0	0
TLL2	7093	broad.mit.edu	37	10	98205876	98205876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:98205876C>T	uc001kml.2	-	2	577	c.336G>A	c.(334-336)atG>atA	p.M112I	TLL2_uc009xvf.2_Missense_Mutation_p.M112I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	112					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGCCAGTGTCCATGGCTGTGG	0.502000														71			15		0	0	0.004007	0	0
WASH1	100287171	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:66940G>A	uc002cfg.1	-	4	1355	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	219					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding	p.S232S(1)				all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTCTCTCTTGCTGATGGACA	0.597000														17			9		0	0	0.000673	0	0
SAMD12	401474	broad.mit.edu	37	8	119391884	119391884	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:119391884C>T	uc003yom.2	-	3	507	c.378G>A	c.(376-378)caG>caA	p.Q126Q	SAMD12_uc010mda.1_Silent_p.Q126Q|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	126	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAGGTTCTCCTGGGCAATCC	0.478000														29			11		0	0	0.001368	0	0
C17orf77	146723	broad.mit.edu	37	17	72588211	72588211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:72588211C>T	uc002jla.1	+	2	388	c.26C>T	c.(25-27)tCc>tTc	p.S9F	CD300LD_uc002jkz.2_Intron|C17orf77_uc021ucq.1_Missense_Mutation_p.S9F	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	9						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTGTCATTTTCCCTGACATGT	0.468000														131			67		0	0	0.003610	0	0
LMX1A	4009	broad.mit.edu	37	1	165183025	165183025	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:165183025G>A	uc001gcz.2	-	4	716	c.522C>T	c.(520-522)ctC>ctT	p.L174L	LMX1A_uc021pdz.1_Silent_p.L174L|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGACTTGCAGAGACTTTCTT	0.488000														70			22		0	0	0.003954	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012771	41012771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41012771C>T	uc003jmj.4	-	29	3539	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E572K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1017							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTGAGGCTCTCCAGACCGTCC	0.468000														31			11		0	0	0.000978	0	0
SKIL	6498	broad.mit.edu	37	3	170078455	170078455	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:170078455C>T	uc003fgu.3	+	1	1048	c.336C>T	c.(334-336)tcC>tcT	p.S112S	SKIL_uc011bps.2_Silent_p.S92S|SKIL_uc003fgv.3_Silent_p.S112S|SKIL_uc003fgw.3_Silent_p.S112S	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	112					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCGGCATTCCCAAGAAAGCA	0.478000														84			113		0	0	0.003610	0	0
SBK1	388228	broad.mit.edu	37	16	28331720	28331720	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28331720C>T	uc002dpd.3	+	3	1542	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGGCAACTTCCCGTGGGAGG	0.736000														36			21		0	0	0.003330	0	0
TGM4	7047	broad.mit.edu	37	3	44929234	44929234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:44929234C>T	uc003coc.4	+	2	320	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TGM4_uc003coa.2_Missense_Mutation_p.P83S|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	83					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T82M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCCGAGGACGCCCTCAGACCA	0.622000														21			16		0	0	0.007413	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452266	43452266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:43452266G>A	uc002rsv.4	-	1	968	c.677C>T	c.(676-678)tCg>tTg	p.S226L	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	226					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ggcgccccccgacggcgcggg	0.706000														5			8		0	0	0.003080	0	0
REG3G	130120	broad.mit.edu	37	2	79253891	79253891	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:79253891C>T	uc002snw.3	+	2	214	c.129C>T	c.(127-129)ggC>ggT	p.G43G	REG3G_uc002snx.3_Silent_p.G43G|REG3G_uc010ffu.3_Silent_p.G43G	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	43					acute-phase response	extracellular region	sugar binding	p.G43S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCCAAAGGCTCCAAGGCCT	0.527000														5			10		0	0	0.006214	0	0
SEMA4B	10509	broad.mit.edu	37	15	90766867	90766867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:90766867C>T	uc002boy.3	+	8	1221	c.938C>T	c.(937-939)cCc>cTc	p.P313L	SEMA4B_uc002boz.3_Missense_Mutation_p.P313L|SEMA4B_uc010uqd.2_Missense_Mutation_p.P151L|SEMA4B_uc002bpa.3_Missense_Mutation_p.P151L	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGCTCACGGCCCGACGATGGC	0.637000														24			8		0	0	0.003080	0	0
CEP120	153241	broad.mit.edu	37	5	122725653	122725653	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:122725653A>G	uc003ktk.3	-	8	1336	c.1220T>C	c.(1219-1221)tTa>tCa	p.L407S	CEP120_uc010jcz.2_Missense_Mutation_p.L381S|CEP120_uc011cwq.2_Missense_Mutation_p.L216S	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	407						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATCATACTGTAAACTTTCCAC	0.383000														26			7		0	0	0.006214	0	0
CADPS2	93664	broad.mit.edu	37	7	121985671	121985671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:121985671C>T	uc022akp.1	-	26	3991	c.3569G>A	c.(3568-3570)cGa>cAa	p.R1190Q	CADPS2_uc003vkg.4_Missense_Mutation_p.R844Q|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R1149Q|CADPS2_uc022akr.1_Missense_Mutation_p.R1190Q	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1190					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCTTTTCTCGAAGAATATC	0.368000														64			7		0	0	0.001984	0	0
SBF1	6305	broad.mit.edu	37	22	50906282	50906282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:50906282G>A	uc003blh.3	-	2	407	c.212C>T	c.(211-213)aCc>aTc	p.T71I	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.T71I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	71	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTTGATGTCGGTGAGGACAGC	0.607000														19			50		0	0	0.003610	0	0
DDX28	55794	broad.mit.edu	37	16	68055780	68055780	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:68055780G>A	uc002evh.2	-	0	1991	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	442	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCTTCTGGAAGGACTGGAAGA	0.517000														9			19		0	0	0.001216	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483032	158483032	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:158483032C>T	uc003qqx.2	+	7	1069	c.963C>T	c.(961-963)ctC>ctT	p.L321L	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.L321L|SYNJ2_uc003qqy.2_Silent_p.L84L|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.L270L|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	321	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)		AGAAGCTGCTCTGGGCTTCTT	0.577000														36			155		0	0	0.003610	0	0
TGM4	7047	broad.mit.edu	37	3	44932094	44932094	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:44932094G>A	uc003coc.4	+	4	374	c.301_splice	c.e4-1	p.V101_splice	TGM4_uc003cob.2_Splice_Site	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	101					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGTTTGCTCAGGTCACAGTGG	0.478000														26			63		0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31317550	31317550	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:31317550G>A	uc003jhe.2	+	9	1941	c.1581G>A	c.(1579-1581)ttG>ttA	p.L527L	CDH6_uc003jhd.2_Silent_p.L527L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTTTTCCTTGGCCCCTGAAG	0.413000														44			31		0	0	0.001786	0	0
OR1N2	138882	broad.mit.edu	37	9	125316310	125316310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125316310G>A	uc011lyx.2	+	0	862	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TACAGAGAGGGAAAGTAGGGC	0.443000														22			8		0	0	0.006214	0	0
CCDC110	256309	broad.mit.edu	37	4	186380141	186380141	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:186380141A>G	uc003ixu.4	-	5	1676	c.1600T>C	c.(1600-1602)Tta>Cta	p.L534L	CCDC110_uc003ixv.4_Silent_p.L497L|CCDC110_uc011ckt.1_Silent_p.L534L	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	534						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTTCTCTAAAGAAAGTTGT	0.274000														26			21		0	0	0.001882	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280658	105280658	+	Missense_Mutation	SNP	C	T	T	rs148370308		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:105280658C>T	uc010npd.3	-	0	627	c.392G>A	c.(391-393)gGa>gAa	p.G131E	SERPINA7_uc004eme.2_Missense_Mutation_p.G131E|SERPINA7_uc010npe.2_Missense_Mutation_p.G131E	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	131					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAGGGCATTTCCTATCTGCAA	0.443000														31			11		0	0	0.000673	0	0
CRNN	49860	broad.mit.edu	37	1	152384617	152384617	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152384617C>T	uc001ezx.2	-	1	167	c.93G>A	c.(91-93)ggG>ggA	p.G31G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	31					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCAGCTCCCCTCGGGTGA	0.542000														43			28		0	0	0.007291	0	0
NPY1R	4886	broad.mit.edu	37	4	164247320	164247320	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:164247320G>A	uc003iqm.2	-	1	852	c.387C>T	c.(385-387)ttC>ttT	p.F129F	NPY1R_uc021xtv.1_Silent_p.F129F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	129					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.I128M(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAACCAGAGAGAAAATGGACA	0.413000														18			27		0	0	0.001512	0	0
TNS4	84951	broad.mit.edu	37	17	38645137	38645137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:38645137G>A	uc010cxb.3	-	2	688	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	175	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAGCCGAAGGGCGGGGTGAC	0.612000														12			98		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9086722	9086722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9086722C>T	uc002mkp.3	-	0	5297	c.5093G>A	c.(5092-5094)gGa>gAa	p.G1698E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G1698E(3)		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						GGAAACTCTTCCTAATGACTG	0.483000														30			35		0	0	0.003755	0	0
ANK3	288	broad.mit.edu	37	10	61847919	61847919	+	Nonsense_Mutation	SNP	G	A	A	rs142673853		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61847919G>A	uc001jky.3	-	28	3864	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	ANK3_uc001jkw.3_Nonsense_Mutation_p.R310*|ANK3_uc009xpa.3_Nonsense_Mutation_p.R310*|ANK3_uc001jkx.3_Nonsense_Mutation_p.R354*|ANK3_uc010qih.2_Nonsense_Mutation_p.R1177*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R1170*|ANK3_uc001jla.1_Nonsense_Mutation_p.R242*|ANK3_uc001jlb.1_Nonsense_Mutation_p.R694*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1176					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R1176*(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCCCACTCGAATTCTTTTA	0.468000														25			23		0	0	0.005443	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	T	T	rs141766544		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57161759C>T	uc001cyk.4	+	5	786	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATCTCAATCGTTCTGTCGC	0.428000														146			49		0	0	0.003610	0	0
RSPRY1	89970	broad.mit.edu	37	16	57272875	57272875	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:57272875T>C	uc002elb.3	+	14	1997	c.1719T>C	c.(1717-1719)tcT>tcC	p.S573S	RSPRY1_uc002elc.3_Silent_p.S573S|RSPRY1_uc002eld.3_Silent_p.S573S	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	573						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GACAGATTTCTCATATTTCAT	0.398000														7			28		0	0	0.004656	0	0
abParts	0	broad.mit.edu	37	14	106733378	106733378	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106733378G>A	uc021ser.1	-	876		c.21168C>T								Parts of antibodies, mostly variable regions.																		CCTTGCAGGAGACCTTCACTG	0.577000														109			49		0	0	0.003610	0	0
ATP9A	10079	broad.mit.edu	37	20	50245611	50245611	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:50245611C>T	uc002xwg.1	-	16	1669	c.1669_splice	c.e16-1	p.D557_splice	ATP9A_uc010gih.1_Splice_Site_p.D421_splice|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	557					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTGATTCATCCTAGAGAGGG	0.478000														86			33		0	0	0.002445	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865257	42865257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:42865257C>T	uc001chi.2	+	1	484	c.346C>T	c.(346-348)Caa>Taa	p.Q116*		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	116	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGGACGTTCCAAGAACTGGC	0.502000														6			16		0	0	0.006122	0	0
SNTG1	54212	broad.mit.edu	37	8	51449367	51449367	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:51449367C>T	uc010lxy.1	+	12	1051	c.680_splice	c.e12+1	p.R227_splice	SNTG1_uc003xqs.1_Splice_Site_p.R227_splice|SNTG1_uc010lxz.1_Splice_Site_p.R227_splice|SNTG1_uc011ldl.1_Splice_Site	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	227					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATTTGAGTCGGTGAGTCCG	0.443000														74			19		0	0	0.001523	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602303	13602303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:13602303G>A	uc003gmz.1	-	9	6338	c.6221C>T	c.(6220-6222)tCc>tTc	p.S2074F	BOD1L1_uc010idr.1_Missense_Mutation_p.S1411F	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2074							DNA binding										GGTACTGGTGGAAATAATCAA	0.433000														10			13		0	0	0.001368	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981533	61981533	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61981533G>A	uc002yes.2	-	4	1408	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	CHRNA4_uc002yet.1_Silent_p.V234V|CHRNA4_uc010gke.1_Silent_p.V339V|CHRNA4_uc002yev.1_Silent_p.V234V|CHRNA4_uc010gkf.1_Silent_p.V234V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	410					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CATCCAGGGGGACACAGAAGG	0.697000														8			6		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	14	106653545	106653545	+	RNA	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106653545A>T	uc021ser.1	-	1432		c.28698T>A								Parts of antibodies, mostly variable regions.																		CCTTTCCTGGAGCCTGGCGGA	0.572000														89			35		0	0	0.004878	0	0
PAPLN	89932	broad.mit.edu	37	14	73716730	73716730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:73716730G>A	uc010ttx.2	+	4	536	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PAPLN_uc001xnw.4_Missense_Mutation_p.E125K|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.E125K	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	125						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCCAAGGGGGAGAACTTCTA	0.592000														16			21		0	0	0.002299	0	0
SERINC5	256987	broad.mit.edu	37	5	79498762	79498762	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:79498762G>A	uc011ctj.2	-	1	295	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SERINC5_uc003kgj.3_Silent_p.V46V|SERINC5_uc003kgm.3_Silent_p.V46V|SERINC5_uc003kgk.3_Silent_p.V46V|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	46					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AGAGGACGACGACCAGAATGA	0.537000														9			5		0	0	0.000602	0	0
C15orf44	81556	broad.mit.edu	37	15	65897475	65897475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:65897475G>A	uc010uix.2	-	2	818	c.430C>T	c.(430-432)Cct>Tct	p.P144S	C15orf44_uc002apd.3_Missense_Mutation_p.P108S|C15orf44_uc010uja.2_Missense_Mutation_p.P91S|C15orf44_uc010ujb.2_Missense_Mutation_p.P51S|C15orf44_uc002ape.4_Missense_Mutation_p.P108S|C15orf44_uc010uiy.2_Missense_Mutation_p.P29S|C15orf44_uc010uiz.2_Intron|C15orf44_uc010ujc.2_Missense_Mutation_p.P140S			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	108	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ACCTGGCAAGGAATTGCACCA	0.413000														61			20		0	0	0.001882	0	0
DIS3	22894	broad.mit.edu	37	13	73335651	73335651	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:73335651G>A	uc001vix.4	-	18	2894	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	DIS3_uc001viy.4_Silent_p.F810F|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	840					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTTGCTTTTGAAGAATAACT	0.234000										Multiple Myeloma(4;0.011)				31			9		0	0	0.004482	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955715	18955715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:18955715G>A	uc001mpg.3	-	0	835	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	206					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S206F(2)		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						TATCTTCCGGGATCCACAGAG	0.502000														18			9		0	0	0.000978	0	0
ENGASE	64772	broad.mit.edu	37	17	77079573	77079573	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:77079573C>T	uc002jwv.3	+	8	1160	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	ENGASE_uc002jww.3_Silent_p.G90G	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	384						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGTTCTGGGGCCGACTGGAGC	0.612000														22			24		0	0	0.004656	0	0
ZNF229	7772	broad.mit.edu	37	19	44933871	44933871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44933871G>A	uc002oze.1	-	5	1519	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	ZNF229_uc010ejk.1_Missense_Mutation_p.S16L|ZNF229_uc010ejl.1_Missense_Mutation_p.S356L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	362					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)				AAGAAGAACCGATTTATACCT	0.498000														32			45		0	0	0.002852	0	0
HCN2	610	broad.mit.edu	37	19	603796	603796	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:603796C>T	uc002lpe.3	+	1	938	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	295					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGACTTCGTGTCCTCCA	0.567000														74			14		0	0	0.002450	0	0
NME8	51314	broad.mit.edu	37	7	37907333	37907333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:37907333G>A	uc003tfn.3	+	10	1023	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	217	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCTCTTTTATGACAAGTGGCT	0.403000														15			23		0	0	0.003330	0	0
ATP11A	23250	broad.mit.edu	37	13	113485772	113485772	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:113485772C>T	uc001vsj.4	+	12	1393	c.1305C>T	c.(1303-1305)gtC>gtT	p.V435V	ATP11A_uc001vsi.4_Silent_p.V435V|ATP11A_uc001vsm.1_Silent_p.V311V	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	435					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGGCCATGTCTACGTGCCCC	0.587000														4			15		0	0	0.003163	0	0
LPHN2	23266	broad.mit.edu	37	1	82456075	82456075	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:82456075G>A	uc001dit.4	+	21	3639	c.3458_splice	c.e21-1	p.G1153_splice	LPHN2_uc001dis.3_Splice_Site_p.R133_splice|LPHN2_uc001diu.3_Splice_Site_p.G1153_splice|LPHN2_uc001div.3_Splice_Site|LPHN2_uc009wcd.3_Splice_Site_p.D1121_splice|LPHN2_uc001diw.3_Splice_Site_p.G780_splice	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1209					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTGTTTCAGGACATTCACTG	0.398000														22			22		0	0	0.003954	0	0
ADAM7	8756	broad.mit.edu	37	8	24349525	24349525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24349525G>A	uc003xeb.3	+	13	1579	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	ADAM7_uc003xec.3_Missense_Mutation_p.G261E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	489	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGGGTCAATGGATTTCCTTGC	0.483000														63			29		0	0	0.001512	0	0
OR10P1	121130	broad.mit.edu	37	12	56031407	56031407	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:56031407C>T	uc010spq.2	+	0	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCTCCTCCCATCTGCTCG	0.587000														52			21		0	0	0.002299	0	0
ITIH2	3698	broad.mit.edu	37	10	7762927	7762927	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:7762927G>A	uc001ijs.3	+	7	900	c.738_splice	c.e7+1	p.K246_splice		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	246					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACAACAGAAGGTACCCTGAGC	0.502000														44			11		0	0	0.001368	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086823	2086823	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2086823C>A	uc002coi.3	+	3	827	c.689C>A	c.(688-690)cCc>cAc	p.P230H	TCRBV20S1_uc021tak.1_Intron|SLC9A3R2_uc002coj.3_Missense_Mutation_p.P230H|SLC9A3R2_uc021tan.1_Missense_Mutation_p.P119H|SLC9A3R2_uc002cok.3_Missense_Mutation_p.P119H|SLC9A3R2_uc021tao.1_Missense_Mutation_p.P117H	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 (SLC9A3R2), transcript variant 1, mRNA.	230	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GTCGTGGACCCCGAGACAGAT	0.672000														19			19		0.000958276	0.00124984	0.007413	1	0
IFI44L	10964	broad.mit.edu	37	1	79095560	79095560	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:79095560A>T	uc010oro.2	+	3	862	c.683A>T	c.(682-684)cAa>cTa	p.Q228L	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	228						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGACTGGCCAAGCCGTAGTG	0.393000														18			16		0	0	0.006122	0	0
RGAG1	57529	broad.mit.edu	37	X	109697580	109697580	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:109697580C>T	uc004eor.2	+	2	3981	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G	RGAG1_uc011msr.1_Silent_p.G1245G	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1245										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCAAACAGGGCCAAAAGTCAG	0.483000														56			51		0	0	0.003610	0	0
APOA4	337	broad.mit.edu	37	11	116691654	116691654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:116691654C>T	uc001pps.1	-	2	1224	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		tgctgttgctccAGCTCAGGG	0.602000														190			95		0	0	0.003610	0	0
TSIX	9383	broad.mit.edu	37	X	73042618	73042618	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73042618G>A	uc004ebn.2	+	0		c.30579G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCGTATGAACGAAAAAATAAA	0.343000														28			16		0	0	0.004007	0	0
TCRVA15	0	broad.mit.edu	37	14	22205179	22205179	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22205179C>T	uc001wbp.2	+	1	292	c.243C>T	c.(241-243)atC>atT	p.I81I	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CCCTGTTTATCCCTGCCGACA	0.498000														15			14		0	0	0.004007	0	0
SUSD3	203328	broad.mit.edu	37	9	95846965	95846965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:95846965C>T	uc004atb.3	+	4	740	c.704C>T	c.(703-705)cCc>cTc	p.P235L	SUSD3_uc004atc.3_Missense_Mutation_p.P222L	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	235						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCAGACAGCCCCTGCCTGCC	0.637000														18			52		0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124632432	124632432	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124632432T>C	uc003ehq.2	-	6	1097	c.1058A>G	c.(1057-1059)aAc>aGc	p.N353S		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	353	EGF-like 2.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GCTCTGTGGGTTAGGCCTTTG	0.433000														37			11		0	0	0.000673	0	0
GUCA2B	2981	broad.mit.edu	37	1	42621240	42621240	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:42621240G>A	uc001chc.1	+	2	342	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	104					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTGTGTGTGAACGTTGCGT	0.627000														49			16		0	0	0.001523	0	0
EXPH5	23086	broad.mit.edu	37	11	108389067	108389067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:108389067G>A	uc001pkk.3	-	4	637	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	EXPH5_uc010rvz.2_Missense_Mutation_p.H20Y|EXPH5_uc010rvy.2_5'UTR	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	176					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAACTAGATGATTTTCCAGA	0.433000														16			5		0	0	0.000602	0	0
BAZ1B	9031	broad.mit.edu	37	7	72863880	72863880	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:72863880G>A	uc003tyc.3	-	14	4072	c.3720C>T	c.(3718-3720)tcC>tcT	p.S1240S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1240					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACCTGCCACGGGAGTTGCGCC	0.438000														17			43		0	0	0.002852	0	0
AMBN	258	broad.mit.edu	37	4	71472046	71472046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:71472046G>A	uc003hfl.3	+	12	1044	c.943G>A	c.(943-945)Ggc>Agc	p.G315S		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	315					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGCCACCAAAGGCCCTGAGAA	0.562000														10			13		0	0	0.001855	0	0
IL20	50604	broad.mit.edu	37	1	207039325	207039325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:207039325G>A	uc001her.3	+	0	172	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	IL20_uc009xby.3_Missense_Mutation_p.R43Q	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	43					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.R43*(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CAGGAAATACGAAATGGATTT	0.473000														35			25		0	0	0.003330	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607089	131607089	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:131607089C>T	uc003kwo.3	+	4	677	c.600C>T	c.(598-600)ccC>ccT	p.P200P	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.P200P|PDLIM4_uc003kwp.3_Silent_p.P200P	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	200							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCGAGCCCGTGGCCGCGG	0.701000														12			13		0	0	0.003163	0	0
KALRN	8997	broad.mit.edu	37	3	123987692	123987692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123987692G>A	uc003ehg.3	+	4	680	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KALRN_uc010hrv.1_Missense_Mutation_p.E185K|KALRN_uc003ehf.1_Missense_Mutation_p.E185K|KALRN_uc011bjy.1_Missense_Mutation_p.E185K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	185					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTGGATCGAACTGCGGCT	0.602000														18			29		0	0	0.005443	0	0
NOVA1	4857	broad.mit.edu	37	14	26918102	26918102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:26918102G>A	uc001wqa.3	-	5	1007	c.221C>T	c.(220-222)gCt>gTt	p.A74V	NOVA1_uc001wpy.3_Missense_Mutation_p.A196V|NOVA1_uc001wpz.3_Missense_Mutation_p.A172V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	199	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTCCATTACAGCCTTCACAGT	0.438000														75			39		0	0	0.002222	0	0
ZMYM3	9203	broad.mit.edu	37	X	70465569	70465569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:70465569C>T	uc004dzh.2	-	16	2988	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.E937K|ZMYM3_uc004dzj.2_Missense_Mutation_p.E925K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	937					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAATCATTTCTGCCATAGCC	0.527000														22			4		0	0	0.000248	0	0
MTOR	2475	broad.mit.edu	37	1	11199426	11199426	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:11199426G>A	uc001asd.3	-	35	5186	c.5065C>T	c.(5065-5067)Ctg>Ttg	p.L1689L		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1689	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACTGTTGGCAGAGGATGGTCA	0.463000														51			74		0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57417763	57417763	+	Silent	SNP	C	T	T	rs148088012		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57417763C>T	uc001cyp.3	-	4	691	c.624G>A	c.(622-624)acG>acA	p.T208T	C8B_uc010oon.2_Silent_p.T146T|C8B_uc010ooo.2_Silent_p.T156T	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	208	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTAAACCTCGTGTTCAGGA	0.512000														50			14		0	0	0.004007	0	0
DMBT1	1755	broad.mit.edu	37	10	124390770	124390770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124390770C>T	uc001lgk.1	+	45	6038	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMBT1_uc001lgl.1_Missense_Mutation_p.R1968C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1350C|DMBT1_uc021qaf.1_Missense_Mutation_p.R1978C|DMBT1_uc021qag.1_Missense_Mutation_p.R1968C|DMBT1_uc021qah.1_Missense_Mutation_p.R1350C|DMBT1_uc009xzz.1_Missense_Mutation_p.R1978C|DMBT1_uc010qtx.1_Missense_Mutation_p.R698C|DMBT1_uc009yab.1_Missense_Mutation_p.R681C|DMBT1_uc009yac.1_Missense_Mutation_p.R272C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1978	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGTAATCATCGTGAAGATGC	0.542000														49			13		0	0	0.003163	0	0
NCOR2	9612	broad.mit.edu	37	12	124841213	124841213	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124841213G>A	uc021rga.1	-	22	3354	c.3237C>T	c.(3235-3237)ccC>ccT	p.P1079P	NCOR2_uc021rgb.1_Silent_p.P1063P|NCOR2_uc010tbb.2_Silent_p.P1072P|NCOR2_uc010tbc.2_Silent_p.P1062P|NCOR2_uc021rgc.1_Silent_p.P1062P|NCOR2_uc010tba.2_Silent_p.P1080P|NCOR2_uc001ugj.1_Silent_p.P1080P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1080					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGAAGGCTGAGGGGTCCGGGG	0.652000														9			31		0	0	0.004878	0	0
GPR39	2863	broad.mit.edu	37	2	133175290	133175290	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:133175290C>T	uc002ttl.3	+	0	1144	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	225						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGCATCTTCGGCGCCTTCG	0.607000														32			30		0	0	0.007291	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487804	73487804	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:73487804C>T	uc010wsa.2	+	12	1641	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	KIAA0195_uc002jnz.4_Silent_p.S473S|KIAA0195_uc010wsb.2_Silent_p.S129S	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	473					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCTGGCTCCCTGAACAACA	0.622000														106			48		0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29296861	29296861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29296861C>T	uc002rmt.2	-	0	267	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	89					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCAGTCCTTCCATATCTTTCC	0.502000														75			43		0	0	0.003214	0	0
TLN1	7094	broad.mit.edu	37	9	35699391	35699391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:35699391G>A	uc003zxt.2	-	50	7190	c.6836C>T	c.(6835-6837)tCc>tTc	p.S2279F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2279					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding	p.S2279S(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCAGTGACGGAACCAGCCAC	0.562000														12			29		0	0	0.002445	0	0
SSPO	23145	broad.mit.edu	37	7	149480348	149480348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:149480348C>T	uc010lpk.3	+	15	2230	c.2230C>T	c.(2230-2232)Ccc>Tcc	p.P744S	SSPO_uc010lpl.1_Missense_Mutation_p.P79S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	744	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGCTGTCTCCCTGCACCAC	0.622000														35			15		0	0	0.004990	0	0
LMTK2	22853	broad.mit.edu	37	7	97822951	97822951	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:97822951C>T	uc003upd.2	+	10	3467	c.3174C>T	c.(3172-3174)acC>acT	p.T1058T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1058					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AACCAGCCACCACGGGCGATG	0.617000														36			4		0	0	0.000602	0	0
CFI	3426	broad.mit.edu	37	4	110687870	110687870	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:110687870C>T	uc011cft.2	-	1	376	c.168G>A	c.(166-168)gaG>gaA	p.E56E	CFI_uc003hzr.4_Silent_p.E56E	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	56	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CACAGGTGCCCTCAATGCATC	0.453000														23			19		0	0	0.001216	0	0
CAMK1G	57172	broad.mit.edu	37	1	209786148	209786148	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:209786148C>T	uc001hhd.3	+	11	1461	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	CAMK1G_uc001hhe.3_Silent_p.V453V	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	453						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCGGAGGTCATGGTACCAG	0.517000														65			26		0	0	0.006320	0	0
NPTX1	4884	broad.mit.edu	37	17	78449913	78449913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:78449913C>T	uc002jyp.1	-	0	492	c.334G>A	c.(334-336)Ggc>Agc	p.G112S		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	112					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TTGCCCGAGCCGGGCTGCTTg	0.716000														30			62		0	0	0.003610	0	0
NPY2R	4887	broad.mit.edu	37	4	156135798	156135798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:156135798C>T	uc003ioq.3	+	1	1196	c.707C>T	c.(706-708)tCa>tTa	p.S236L	NPY2R_uc003ior.3_Missense_Mutation_p.S236L|NPY2R_uc021xtm.1_Missense_Mutation_p.S236L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	236					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGCATTATATCATTTTCCTAC	0.433000														30			35		0	0	0.003271	0	0
FMO3	2328	broad.mit.edu	37	1	171080110	171080110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:171080110G>A	uc001ghi.3	+	5	910	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	FMO3_uc001ghh.3_Missense_Mutation_p.E267K|FMO3_uc010pmb.2_Missense_Mutation_p.E247K|FMO3_uc010pmc.2_Missense_Mutation_p.E204K	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	267					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCAAGCATGAAAACTATGG	0.438000														16			26		0	0	0.006320	0	0
HTR3B	9177	broad.mit.edu	37	11	113815350	113815350	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:113815350C>T	uc001pok.3	+	7	1101	c.963C>T	c.(961-963)atC>atT	p.I321I	HTR3B_uc001pol.3_Silent_p.I310I	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	321					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTAAGTCCATCGTGTTGGTCA	0.537000														33			13		0	0	0.001368	0	0
GDPD4	220032	broad.mit.edu	37	11	76980019	76980019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:76980019C>T	uc001oyf.3	-	7	825	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	192					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCCAAATTCTCCTTCTCCTGA	0.453000														48			19		0	0	0.001216	0	0
KIFC1	3833	broad.mit.edu	37	6	33372839	33372840	+	Missense_Mutation	DNP	GG	AA	AA	rs145666693	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33372839_33372840GG>AA	uc003oef.4	+	6	1417_1418	c.967_968GG>AA	c.(967-969)ggg>AAg	p.G323K	KIFC1_uc011drf.2_Missense_Mutation_p.G315K	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	323	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTCCTGCCGGGGGAGCCCACT	0.653000														7			51		0	0	0.004672	0	0
NTSR1	4923	broad.mit.edu	37	20	61340784	61340785	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61340784_61340785GG>AA	uc002ydf.3	+	0	596_597	c.225_226GG>AA	c.(223-228)gtggtg>gtAAtg	p.V76M		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	76						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCTCTTCGTGGTGGGCACGGT	0.668000														41			24		0	0	0.004672	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919975	51919975	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51919975C>T	uc002pwo.3	-	2	873	c.651G>A	c.(649-651)gtG>gtA	p.V217V	SIGLEC10_uc002pwp.3_Silent_p.V159V|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Silent_p.V159V|SIGLEC10_uc010ycz.2_Silent_p.V169V|SIGLEC10_uc002pws.2_Silent_p.V159V|SIGLEC10_uc002pwr.3_Silent_p.V217V|SIGLEC10_uc010ycy.2_Silent_p.V217V|SIGLEC10_uc010eow.3_5'UTR|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	217	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGAGAAGTCCACATGGCAGG	0.632000														22			20		0	0	0.001882	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317681	30317681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:30317681C>T	uc009xle.2	-	2	1533	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	KIAA1462_uc001iux.3_Missense_Mutation_p.G466R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G328R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	466										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCATTCCTCCATGAGCCGGC	0.522000														55			19		0	0	0.001882	0	0
DCAF16	54876	broad.mit.edu	37	4	17805284	17805284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:17805284G>A	uc003gpn.3	-	2	1542	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	DCAF16_uc021xmp.1_Missense_Mutation_p.P161S	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	161						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TCAGGTATGGGAGTGGCTCTA	0.463000														78			27		0	0	0.005443	0	0
OR6S1	341799	broad.mit.edu	37	14	21108993	21108993	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:21108993T>C	uc001vxv.1	-	0	858	c.858A>G	c.(856-858)ccA>ccG	p.P286P		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GATTCAACAGTGGTGTCACAA	0.443000														61			77		0	0	0.003610	0	0
CRHR2	1395	broad.mit.edu	37	7	30706899	30706899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:30706899C>T	uc003tbn.3	-	2	505	c.260G>A	c.(259-261)gGg>gAg	p.G87E	CRHR2_uc010kvw.2_Missense_Mutation_p.G87E|CRHR2_uc010kvx.2_Missense_Mutation_p.G87E|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Intron|CRHR2_uc003tbo.3_Missense_Mutation_p.G73E|CRHR2_uc003tbp.3_Missense_Mutation_p.G114E	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	87					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.G87E(2)|p.G73E(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCCACGTCCCATTCTCCAA	0.542000														19			32		0	0	0.002096	0	0
PENK	5179	broad.mit.edu	37	8	57354305	57354305	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:57354305G>A	uc003xsz.2	-	1	411	c.330C>T	c.(328-330)ttC>ttT	p.F110F	PENK_uc003xta.3_Silent_p.F110F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	110					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTTCTTCATGAAGCCTCCAT	0.488000														50			71		0	0	0.003610	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777484	18777484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:18777484C>T	uc003zne.4	+	18	3409	c.3257C>T	c.(3256-3258)tCc>tTc	p.S1086F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1086						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAACCTCTCCCAGCAGCCC	0.672000														1			7		0	0	0.003080	0	0
FAP	2191	broad.mit.edu	37	2	163075645	163075645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163075645G>A	uc002ucd.3	-	7	743	c.535C>T	c.(535-537)Cca>Tca	p.P179S	FAP_uc010zct.2_Missense_Mutation_p.P154S|FAP_uc010fpe.1_Missense_Mutation_p.P146S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	179					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGAAAAGGTGGATCTCCTGGT	0.328000														41			30		0	0	0.001512	0	0
DNAJC17	55192	broad.mit.edu	37	15	41068815	41068815	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:41068815G>A	uc001zms.2	-	4	338	c.306C>T	c.(304-306)gcC>gcT	p.A102A	DNAJC17_uc010bbz.2_Non-coding_Transcript|DNAJC17_uc010bca.2_Non-coding_Transcript|DNAJC17_uc010bcb.2_Non-coding_Transcript	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.	102					protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCCGCTCCCGGGCCTCCAGGT	0.627000														97			14		0	0	0.002780	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783640	140783640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140783640G>A	uc003lkh.2	+	0	1121	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.R374Q	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	377	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCATGACCGAGACTCCGGG	0.408000														19			20		0	0	0.001216	0	0
ITGA8	8516	broad.mit.edu	37	10	15614275	15614275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:15614275G>A	uc001ioc.1	-	24	2572	c.2572C>T	c.(2572-2574)Cat>Tat	p.H858Y	ITGA8_uc010qcb.1_Missense_Mutation_p.H843Y	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	858					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTTGAATATGGAAAATATAG	0.443000														41			10		0	0	0.000673	0	0
FAM53C	51307	broad.mit.edu	37	5	137681191	137681191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:137681191C>T	uc003lcv.3	+	3	1284	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	FAM53C_uc003lcw.3_Missense_Mutation_p.R272C|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_Silent_p.A87A	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	272										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCGAAGCCGCTCACAGCC	0.657000														34			40		0	0	0.006999	0	0
NPSR1	387129	broad.mit.edu	37	7	34889218	34889218	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:34889218G>A	uc003teh.1	+	9	1295	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.R356K|NPSR1_uc010kwt.1_Missense_Mutation_p.R203K|NPSR1_uc010kwu.1_Missense_Mutation_p.R146K|NPSR1_uc010kwv.1_Missense_Mutation_p.R290K|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTCCGGGAGAGAACTGAGAGG	0.488000														71			31		0	0	0.005524	0	0
ANK3	288	broad.mit.edu	37	10	61829982	61829982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61829982C>T	uc001jky.3	-	36	10995	c.10657G>A	c.(10657-10659)Gaa>Aaa	p.E3553K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3553					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAAAACTTCATCATCCCCT	0.448000														12			20		0	0	0.001216	0	0
OBSCN	84033	broad.mit.edu	37	1	228509638	228509638	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228509638C>T	uc009xez.1	+	54	15140	c.15096C>T	c.(15094-15096)ttC>ttT	p.F5032F	OBSCN_uc001hsn.3_Silent_p.F5032F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5032					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGCTCTTCCTGAGTGCAG	0.622000														13			7		0	0	0.001984	0	0
MME	4311	broad.mit.edu	37	3	154898230	154898230	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:154898230G>A	uc010hvr.1	+	22	2446	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	MME_uc003fab.1_Silent_p.K745K|MME_uc003fac.1_Silent_p.K745K|MME_uc003fad.1_Silent_p.K745K|MME_uc003fae.1_Silent_p.K745K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	745					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATCCAGAAAAGAAGTGCCGGG	0.418000														53			8		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347604	140347604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140347604C>T	uc003lii.3	+	0	1858	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.S418F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	418	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGAAACTCCTATACACTG	0.582000														45			48		0	0	0.003610	0	0
BFSP1	631	broad.mit.edu	37	20	17479505	17479505	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:17479505G>A	uc002wpo.3	-	5	955	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	BFSP1_uc002wpp.3_Silent_p.L181L|BFSP1_uc010zrn.2_Silent_p.L167L|BFSP1_uc010zro.2_Silent_p.L167L	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	306	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TACCGGTCCAGCTCATTCTTC	0.552000														33			22		0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126412679	126412679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126412679G>A	uc003ifj.4	+	16	14702	c.14702G>A	c.(14701-14703)gGa>gAa	p.G4901E	FAT4_uc011cgp.2_Missense_Mutation_p.G3142E|FAT4_uc003ifi.1_Missense_Mutation_p.G2378E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4901					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCGAGGGAGGACCTGTGGGC	0.537000														23			19		0	0	0.001882	0	0
C5orf42	65250	broad.mit.edu	37	5	37154076	37154076	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:37154076G>A	uc011cpa.1	-	40	8208	c.7977C>T	c.(7975-7977)ttC>ttT	p.F2659F	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Silent_p.F1177F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.F1752F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2659										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTGAATCGGAACTCTGGTT	0.383000														31			31		0	0	0.002445	0	0
CRNN	49860	broad.mit.edu	37	1	152382405	152382405	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152382405G>A	uc001ezx.2	-	2	1227	c.1153C>T	c.(1153-1155)Caa>Taa	p.Q385*		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	385	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATCTTTGACCACTGCCT	0.597000														68			26		0	0	0.004656	0	0
TECTA	7007	broad.mit.edu	37	11	120989117	120989117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120989117C>T	uc010rzo.2	+	5	893	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	298	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.S298S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAGGAGGCTTCCTGTAGCCCC	0.547000														20			12		0	0	0.001368	0	0
TRIML2	205860	broad.mit.edu	37	4	189022305	189022305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:189022305C>T	uc011cle.1	-	2	607	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.E79K|TRIML2_uc011clf.1_Missense_Mutation_p.E129K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	79							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATATGCATTCCTGCTGTCTC	0.438000														39			8		0	0	0.004482	0	0
OR1N1	138883	broad.mit.edu	37	9	125289031	125289031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125289031G>A	uc004bmn.1	-	0	542	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTTCAGGACAGGAGTGATGTC	0.493000														3			19		0	0	0.001523	0	0
CD1E	913	broad.mit.edu	37	1	158325184	158325184	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158325184C>T	uc001fse.3	+	2	743	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CD1E_uc010pid.2_Silent_p.F148F|CD1E_uc010pie.2_Silent_p.F51F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.F150F|CD1E_uc001fsf.3_Silent_p.F150F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.F51F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.F150F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	150					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTGAGTTTCCAAGGAATTT	0.453000														77			19		0	0	0.007413	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745023	33745023	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:33745023C>T	uc002rox.3	+	5	805	c.178C>T	c.(178-180)Cga>Tga	p.R60*	RASGRP3_uc010ync.2_Nonsense_Mutation_p.R60*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.R60*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	60	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTTTACGTATCGAAATGCCAC	0.373000														5			7		0	0	0.004482	0	0
ACMSD	130013	broad.mit.edu	37	2	135659392	135659392	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:135659392C>T	uc002ttz.3	+	9	1040	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	ACMSD_uc002tua.3_Silent_p.L267L|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	325					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CGGCAATGCCCTGGCATTTTT	0.294000														20			22		0	0	0.004656	0	0
SMS	6611	broad.mit.edu	37	X	21985355	21985355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:21985355C>T	uc004dag.3	+	1	319	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	SMS_uc011mjq.2_5'UTR	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	31					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GTCCATTTTCCAGGAGCAGGG	0.527000														34			10		0	0	0.006214	0	0
GRIA3	2892	broad.mit.edu	37	X	122318472	122318472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:122318472G>A	uc004etq.4	+	0	377	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GRIA3_uc004etr.4_Missense_Mutation_p.G29R|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.2_Missense_Mutation_p.G29R	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	29					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G28E(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTCTCACGGAGGATTCCCCAA	0.587000														62			29		0	0	0.006320	0	0
FMN2	56776	broad.mit.edu	37	1	240370099	240370099	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:240370099G>A	uc010pye.2	+	6	2224	c.1999_splice	c.e6-1	p.E667_splice	FMN2_uc010pyd.2_Splice_Site_p.E663_splice	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	663					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E806K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393000														23			11		0	0	0.000978	0	0
OXTR	5021	broad.mit.edu	37	3	8809153	8809153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:8809153C>T	uc003brc.3	-	2	1343	c.721G>A	c.(721-723)Gcc>Acc	p.A241T		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	241					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGCGCCTCGGCCGCCGCCGCT	0.672000														23			6		0	0	0.001168	0	0
OR10T2	128360	broad.mit.edu	37	1	158368446	158368447	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158368446_158368447CC>AT	uc010pih.2	-	0	810_811	c.810_811GG>AT	c.(808-813)aaggat>aaATat	p.D271Y		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D271Y(2)|p.D271H(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACCAACTGATCCTTGTCTGAGG	0.475000														29			7		0	0	0.004672	0	0
C6orf10	10665	broad.mit.edu	37	6	32261458	32261458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:32261458G>A	uc021yvt.1	-	22	1165	c.992C>T	c.(991-993)cCa>cTa	p.P331L	C6orf10_uc011dpx.2_Missense_Mutation_p.P322L|C6orf10_uc021yvs.1_Missense_Mutation_p.P248L|C6orf10_uc011dpz.2_Missense_Mutation_p.P329L|C6orf10_uc021yvu.1_Missense_Mutation_p.P329L|C6orf10_uc021yvv.1_Missense_Mutation_p.P315L	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	331						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTGTCCTCTTGGTACATCTGA	0.448000														14			70		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141122324	141122324	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:141122324G>A	uc002tvj.1	-	71	12009	c.11037C>T	c.(11035-11037)ttC>ttT	p.F3679F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3679	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTGCAAAGGAACTCATCAG	0.403000										TSP Lung(27;0.18)				11			8		0	0	0.004482	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140595	39140595	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:39140595C>T	uc004abi.3	-	11	2036	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G	CNTNAP3_uc004abj.3_Silent_p.G599G|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.G599G|CNTNAP3_uc011lqs.1_Silent_p.G506G	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	599	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGACGGGTTCCCTCGGTGCT	0.458000														12			42		0	0	0.006230	0	0
TIMM50	92609	broad.mit.edu	37	19	39971592	39971592	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:39971592C>T	uc002olu.1	+	0	541	c.408C>T	c.(406-408)gcC>gcT	p.A136A	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	33					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCGCCGGGCCCCAGATCAGG	0.706000														6			9		0	0	0.006214	0	0
SDK2	54549	broad.mit.edu	37	17	71382048	71382048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:71382048C>T	uc010dfm.3	-	31	4507	c.4507G>A	c.(4507-4509)Gaa>Aaa	p.E1503K	SDK2_uc002jjt.4_Missense_Mutation_p.E662K|SDK2_uc010dfn.2_Missense_Mutation_p.E1182K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1503	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGGGTGCTTCATCGGGGGCT	0.612000														3			11		0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				9			31		0	0	0.002096	0	0
DNAH3	55567	broad.mit.edu	37	16	20976069	20976069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20976069C>T	uc010vbe.2	-	52	9137	c.9137G>A	c.(9136-9138)gGg>gAg	p.G3046E	DNAH3_uc010vbd.2_Missense_Mutation_p.G481E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3046	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATGGGATCCCCTAACGTGTG	0.517000														27			14		0	0	0.002450	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587270	33587270	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:33587270T>C	uc002nug.1	+	6	1084	c.770T>C	c.(769-771)cTt>cCt	p.L257P		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	257						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CATTTTAATCTTTTCAGTGGT	0.423000														78			25		0	0	0.004656	0	0
PSD3	23362	broad.mit.edu	37	8	18662313	18662313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:18662313C>T	uc003wza.3	-	4	1833	c.1730G>A	c.(1729-1731)gGt>gAt	p.G577D	PSD3_uc003wyy.3_Missense_Mutation_p.G43D|PSD3_uc003wyz.3_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	577	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGCTGGTACCATTACTGAG	0.453000														75			51		0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108724101	108724101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108724101G>A	uc003dxl.3	-	18	1916	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	MORC1_uc011bhn.2_Missense_Mutation_p.S589L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	610					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCAAAGGATGAAAGAGATTC	0.343000														20			27		0	0	0.005443	0	0
KLHL6	89857	broad.mit.edu	37	3	183209742	183209742	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:183209742C>T	uc003flr.3	-	6	1897	c.1839G>A	c.(1837-1839)agG>agA	p.R613R	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGGGCACGATCCTGCGGATGT	0.672000														25			54		0	0	0.003610	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179873116	179873116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:179873116C>T	uc001gnq.3	+	5	973	c.755C>T	c.(754-756)tCa>tTa	p.S252L	TOR1AIP1_uc001gnp.1_Missense_Mutation_p.S253L	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	252						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACCACCAGATCATCTAGTCAA	0.299000														11			8		0	0	0.004482	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000														41			13		0	0	0.003163	0	0
INPP5F	22876	broad.mit.edu	37	10	121541275	121541275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:121541275G>A	uc001leo.3	+	2	523	c.307G>A	c.(307-309)Gag>Aag	p.E103K	INPP5F_uc001len.4_Missense_Mutation_p.E103K	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	103							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCAGGATCTTGAGCTAGAGGT	0.393000														11			16		0	0	0.001216	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541451	40541451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:40541451G>A	uc002omu.3	-	4	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H291Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTTTGA	0.378000														34			50		0	0	0.003610	0	0
CCDC93	54520	broad.mit.edu	37	2	118753059	118753059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:118753059C>T	uc002tlj.3	-	5	650	c.482G>A	c.(481-483)aGa>aAa	p.R161K	CCDC93_uc010fld.2_Missense_Mutation_p.R217K	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	161										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTTTCTTTTCTCTTTATGAA	0.413000														31			17		0	0	0.004007	0	0
CASQ1	844	broad.mit.edu	37	1	160165306	160165306	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:160165306C>T	uc010pja.2	+	4	890	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	211						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCCTTCTTCGCCACCTTCG	0.547000														39			15		0	0	0.004007	0	0
CNTN5	53942	broad.mit.edu	37	11	100211289	100211289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:100211289G>A	uc001pga.3	+	21	3329	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E	CNTN5_uc021qpb.1_Missense_Mutation_p.G942E|CNTN5_uc021qpc.1_Missense_Mutation_p.G868E|CNTN5_uc010ruk.2_Missense_Mutation_p.G213E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	942	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G942E(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGATTAGAAGGAAATACGTTA	0.438000														4			4		0	0	0.000248	0	0
ASB10	136371	broad.mit.edu	37	7	150883911	150883911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150883911G>A	uc003wjm.1	-	0	568	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	ASB10_uc003wjl.1_Missense_Mutation_p.R103C|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	103					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAGAGCACGGATGTTGAAG	0.632000														6			15		0	0	0.002450	0	0
UBR2	23304	broad.mit.edu	37	6	42637845	42637845	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:42637845G>A	uc011dur.2	+	34	4195	c.3897G>A	c.(3895-3897)gaG>gaA	p.E1299E	UBR2_uc011dus.2_Silent_p.E944E|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1299					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTTATTCTGAGAGCATAAAAG	0.383000														4			22		0	0	0.002299	0	0
SV2A	9900	broad.mit.edu	37	1	149880793	149880793	+	Missense_Mutation	SNP	G	A	A	rs117711516	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:149880793G>A	uc001etg.3	-	7	1821	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.R444W	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	444					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GTGATGCGCCGATATTCGGGA	0.512000														34			32		0	0	0.006230	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786241	121786241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:121786241C>T	uc003ksw.1	+	9	1905	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P125S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P201S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P614S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P201S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P163S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P201S|SNCAIP_uc003kta.1_Missense_Mutation_p.P199S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P261S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P507S|BC029465_uc003ktb.1_Splice_Site|SNCAIP_uc003ktc.1_Missense_Mutation_p.P83S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	567					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACCATCCTCACCTGCCTCCAG	0.438000														91			21		0	0	0.002780	0	0
SLK	9748	broad.mit.edu	37	10	105727584	105727584	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:105727584C>G	uc001kxo.1	+	0	115	c.81C>G	c.(79-81)gaC>gaG	p.D27E	SLK_uc001kxp.1_Missense_Mutation_p.D27E	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	27					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAAGAGGGACCTGAACCCCG	0.483000														57			17		0	0	0.006122	0	0
AXIN2	8313	broad.mit.edu	37	17	63533929	63533929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:63533929G>A	uc002jfi.3	-	5	1514	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	AXIN2_uc002jfh.3_Missense_Mutation_p.L409F	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	409	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGAGTGTGAGCTCGGAGCCC	0.617000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					0			7		0	0	0.003080	0	0
FAM24A	118670	broad.mit.edu	37	10	124671180	124671180	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124671180G>A	uc001lgv.3	+	1	151	c.30G>A	c.(28-30)aaG>aaA	p.K10K		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	10						extracellular region		p.K10R(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCAGGACGAAGATCATGATCG	0.493000														80			25		0	0	0.003954	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074350	73074350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:73074350C>T	uc001otu.3	+	14	5117	c.5096C>T	c.(5095-5097)cCt>cTt	p.P1699L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1699					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCCTTTGGGCCTGGTGGTCCC	0.662000														8			4		0	0	0.000602	0	0
DSC2	1824	broad.mit.edu	37	18	28669479	28669479	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28669479A>G	uc002kwl.4	-	4	1007	c.553T>C	c.(553-555)Tta>Cta	p.L185L	DSC2_uc002kwk.4_Silent_p.L185L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	185	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACATAAAATAAATTCCGAGGT	0.378000														5			9		0	0	0.006214	0	0
CDH10	1008	broad.mit.edu	37	5	24488197	24488197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:24488197C>T	uc003jgr.2	-	11	2448	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	648					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGATATCTTCTTTTGACAAG	0.443000										HNSCC(23;0.051)				39			21		0	0	0.002299	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943162	35943162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:35943162C>T	uc003olm.3	-	9	1388	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E	SLC26A8_uc003oll.3_Missense_Mutation_p.G321E|SLC26A8_uc003oln.3_Missense_Mutation_p.G426E	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	426					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGTTGTCTTCCTCCAGATTT	0.333000														3			15		0	0	0.004007	0	0
OSTalpha	200931	broad.mit.edu	37	3	195955025	195955025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:195955025G>A	uc003fwd.3	+	4	603	c.402G>A	c.(400-402)atG>atA	p.M134I	OSTalpha_uc010iac.1_Missense_Mutation_p.M18I|OSTalpha_uc003fwe.3_Missense_Mutation_p.M1I	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	134						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGCTGGTCATGGTGGAAGGCT	0.612000														189			45		0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167142982	167142982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:167142982G>A	uc010fpl.3	-	10	1807	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S360F|SCN9A_uc002uds.1_Missense_Mutation_p.S360F|SCN9A_uc002udt.1_Missense_Mutation_p.S360F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	489						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCTCCACTGGAGAGCTTCTT	0.418000														52			24		0	0	0.002780	0	0
SYT9	143425	broad.mit.edu	37	11	7334767	7334767	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:7334767G>A	uc001mfe.3	+	2	876	c.639G>A	c.(637-639)ggG>ggA	p.G213G	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	213						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G213R(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGATGACGGGAGACGGAGTA	0.388000														16			8		0	0	0.004482	0	0
FSCN2	25794	broad.mit.edu	37	17	79495898	79495898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79495898C>T	uc010wuo.2	+	0	482	c.341C>T	c.(340-342)aCc>aTc	p.T114I	FSCN2_uc010wup.2_Missense_Mutation_p.T114I	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	114					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TTCGGAGGCACCGAGGACCAG	0.716000														8			9		0	0	0.000673	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442265	103442265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:103442265G>A	uc001ymi.1	-	9	1574	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	448					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCAGCCTCCGAATCCTCCTC	0.617000														73			49		0	0	0.003610	0	0
OR13C8	138802	broad.mit.edu	37	9	107331676	107331676	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:107331676C>T	uc011lvo.2	+	0	228	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACACAAGTTCCTCTGTCCCAC	0.438000														27			100		0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33858947	33858947	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:33858947C>T	uc001zhi.3	+	11	1285	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	RYR3_uc010bar.3_Silent_p.S405S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	405					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGGAGTCCCAGGCTGCTC	0.532000														51			14		0	0	0.002450	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379479	19379479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:19379479C>T	uc022btq.1	-	27	3835	c.3835G>A	c.(3835-3837)Gat>Aat	p.D1279N	MAP3K15_uc004czj.2_Missense_Mutation_p.D714N|MAP3K15_uc004czk.2_Missense_Mutation_p.D754N|PDHA1_uc004czh.4_3'UTR|PDHA1_uc011mjc.2_3'UTR|PDHA1_uc004czg.4_3'UTR|PDHA1_uc011mjd.2_3'UTR|PDHA1_uc010nfl.3_3'UTR|MAP3K15_uc004czi.2_Missense_Mutation_p.D213N	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1279							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TATCTTAGATCTTCCTTAGTG	0.363000														28			8		0	0	0.004482	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906432	13906432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:13906432G>A	uc001rbt.2	-	2	1008	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	277					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGAGATGAGCCCAGTGGGG	0.552000														5			18		0	0	0.006122	0	0
CPS1	1373	broad.mit.edu	37	2	211540509	211540509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:211540509C>T	uc010fur.3	+	36	4319	c.4237C>T	c.(4237-4239)Cca>Tca	p.P1413S	CPS1_uc002vee.4_Missense_Mutation_p.P1407S|CPS1_uc010fus.3_Missense_Mutation_p.P956S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1407					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCTGCCACCCCAGTGGCATG	0.438000														31			24		0	0	0.007291	0	0
IARS2	55699	broad.mit.edu	37	1	220284190	220284191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:220284190_220284191CC>TT	uc001hmc.3	+	10	1494_1495	c.1390_1391CC>TT	c.(1390-1392)ccg>TTg	p.P464L	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	464					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCATAGCTATCCGTATGACTGG	0.356000														27			13		0	0	0.004672	0	0
OPLAH	26873	broad.mit.edu	37	8	145110730	145110730	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:145110730G>A	uc003zar.3	-	15	2291	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	737							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ATGGACAGCTGGATAGGGTCC	0.647000														3			4		0	0	0.000602	0	0
ZNF662	389114	broad.mit.edu	37	3	42950362	42950362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:42950362G>A	uc003cmk.2	+	2	478	c.292G>A	c.(292-294)Gga>Aga	p.G98R	ZNF662_uc003cmi.2_Missense_Mutation_p.G38R|ZNF662_uc003cmj.2_5'UTR	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGTTCCTCGGGGAGCTCTGGA	0.532000														63			13		0	0	0.001855	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400816	11400816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:11400816G>A	uc003gmq.3	-	1	1137	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	HS3ST1_uc021xmg.1_Missense_Mutation_p.R272W	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	272						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGGTGCGCCCGGCCTTTGGAC	0.493000														24			43		0	0	0.006999	0	0
KCNV1	27012	broad.mit.edu	37	8	110985004	110985004	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:110985004C>T	uc003ynr.4	-	1	1278	c.474G>A	c.(472-474)agG>agA	p.R158R	KCNV1_uc010mcw.3_Silent_p.R158R	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	158						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)			TCAGCTCTTTCCTTCTGAAGT	0.383000														29			40		0	0	0.001951	0	0
CUX1	1523	broad.mit.edu	37	7	101844895	101844895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:101844895C>T	uc003uys.4	+	17	2478	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.A773V	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	773					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCTCCTGAGGCCGGTGCCTCT	0.677000														99			42		0	0	0.002222	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984085	41984085	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:41984085C>T	uc003gwk.2	+	0	373	c.276C>T	c.(274-276)gtC>gtT	p.V92V		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	92										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGAACCAGGTCGAAGTCGAAG	0.537000														37			13		0	0	0.003163	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100550946	100550946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:100550946C>T	uc001tgs.3	-	4	823	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript|DQ583972_uc001tgv.1_5'Flank|DQ579681_uc001tgx.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		GCCCTACCTTCACCTCTCCCT	0.627000														8			16		0	0	0.004007	0	0
KCNT2	343450	broad.mit.edu	37	1	196398861	196398861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196398861C>T	uc001gtd.1	-	8	725	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R222Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R222Q|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.R222Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R197Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	222						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTTCCTATTCGTTCCAGATG	0.378000														4			5		0	0	0.001168	0	0
HGF	3082	broad.mit.edu	37	7	81335623	81335623	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:81335623C>T	uc003uhl.3	-	14	1902	c.1737G>A	c.(1735-1737)ctG>ctA	p.L579L	HGF_uc003uhm.3_Silent_p.L574L	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	579	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCATTAAAACCAGATCTGATC	0.423000														44			11		0	0	0.001368	0	0
F8	2157	broad.mit.edu	37	X	154157818	154157818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154157818G>A	uc004fmt.3	-	13	4418	c.4247C>T	c.(4246-4248)cCa>cTa	p.P1416L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1416	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTAATAGATGGAAATGATGA	0.418000														54			24		0	0	0.004656	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834363	101834363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:101834363C>T	uc001pgm.3	+	5	2867	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	KIAA1377_uc001pgn.3_Missense_Mutation_p.S822F|KIAA1377_uc010run.2_Missense_Mutation_p.S667F|KIAA1377_uc009yxa.1_Missense_Mutation_p.S667F	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	866							protein binding	p.S866S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATGCTTGTTCTGACCTAGTC	0.383000														16			8		0	0	0.003080	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398709	47398709	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47398709G>A	uc001cqp.4	-	9	1284	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	CYP4A11_uc001cqq.2_Silent_p.V411V	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	411				MVL -> TVM (in Ref. 9; CAA50586).	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGAGAGGAGGACCATGATAC	0.517000														81			92		0	0	0.003610	0	0
HSP90B1	7184	broad.mit.edu	37	12	104326097	104326097	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:104326097A>G	uc001tkb.1	+	2	300	c.195A>G	c.(193-195)caA>caG	p.Q65Q	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Silent_p.Q65Q|GNN_uc010swf.2_5'Flank|GNN_uc009zuh.2_5'Flank	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	65					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATGCATCACAAATAAGAGAAC	0.348000														6			13		0	0	0.001368	0	0
DNAH8	1769	broad.mit.edu	37	6	38917251	38917251	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:38917251G>A	uc021yzh.1	+	80	12262	c.12153G>A	c.(12151-12153)tgG>tgA	p.W4051*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W3834*|DNAH8_uc003oog.1_Nonsense_Mutation_p.W283*|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGGGGTGGAAAAGCTGGT	0.373000														27			99		0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155011	55155011	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:55155011A>C	uc003han.4	+	19	3051	c.2720A>C	c.(2719-2721)aAt>aCt	p.N907T	PDGFRA_uc003haa.3_Missense_Mutation_p.N667T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	907	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACTTTCTACAATAAGATCAAG	0.522000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				18			16		0	0	0.006122	0	0
LOC728989	728989	broad.mit.edu	37	1	146495617	146495617	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:146495617C>T	uc001epd.2	-	2	389	c.315G>A	c.(313-315)gtG>gtA	p.V105V						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		ACGCTGATCTCACAAGAGACA	0.512000														8			7		0	0	0.000673	0	0
KCNH7	90134	broad.mit.edu	37	2	163374646	163374646	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163374646G>A	uc002uch.2	-	3	715	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_uc002uci.3_Silent_p.F162F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAGACCAGGGAATTTGAACC	0.388000														4			6		0	0	0.001168	0	0
PAPPA	5069	broad.mit.edu	37	9	119097323	119097323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:119097323G>A	uc004bjn.3	+	12	3962	c.3581G>A	c.(3580-3582)aGa>aAa	p.R1194K	PAPPA_uc011lxp.1_Missense_Mutation_p.R889K|PAPPA_uc011lxq.2_Missense_Mutation_p.R569K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1194					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTGCCAGAGAGGGGAGACC	0.622000														6			24		0	0	0.003330	0	0
INSL6	11172	broad.mit.edu	37	9	5185431	5185431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:5185431C>T	uc003zix.3	-	0	188	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	58						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAAGGGGTTTCCTCCTCGAAA	0.577000														20			67		0	0	0.003610	0	0
COL20A1	57642	broad.mit.edu	37	20	61941759	61941759	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61941759C>T	uc011aau.2	+	10	1390	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	COL20A1_uc011aav.2_Silent_p.S251S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	430	Fibronectin type-III 2.				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)					CCGCCGCCTCCACGGAGCTGC	0.682000														15			17		0	0	0.001216	0	0
ABCG8	64241	broad.mit.edu	37	2	44071673	44071673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:44071673G>A	uc002rtq.3	+	1	181	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	ABCG8_uc010yoa.2_Missense_Mutation_p.E31K	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	31					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTCTCCTCTGAAAGTGACAA	0.542000														91			105		0	0	0.003610	0	0
C10orf2	56652	broad.mit.edu	37	10	102753064	102753064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:102753064C>T	uc001ksf.2	+	4	2527	c.1852C>T	c.(1852-1854)Ccg>Tcg	p.P618S	C10orf2_uc010qpv.1_Missense_Mutation_p.P164S|C10orf2_uc001ksg.2_3'UTR|C10orf2_uc001ksi.2_3'UTR|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	618	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGTCTTCCCGCTTGAGTT	0.517000														60			46		0	0	0.003214	0	0
CHRD	8646	broad.mit.edu	37	3	184104473	184104473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:184104473G>A	uc003fov.3	+	15	2372	c.2126G>A	c.(2125-2127)gGg>gAg	p.G709E	CHRD_uc003fow.3_Missense_Mutation_p.G339E|CHRD_uc003fox.3_Missense_Mutation_p.G709E|CHRD_uc003foy.3_Missense_Mutation_p.G339E|CHRD_uc010hyc.3_Missense_Mutation_p.G299E|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	709	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTTCGAGGGGCAGCAGCGC	0.701000														10			18		0	0	0.001882	0	0
MLH1	4292	broad.mit.edu	37	3	37067129	37067129	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37067129C>T	uc003cgl.3	+	12	1237	c.1039_splice	c.e12-1	p.T347_splice	MLH1_uc011aye.2_Splice_Site_p.T106_splice|MLH1_uc011ayb.2_Splice_Site_p.T106_splice|MLH1_uc010hge.3_Splice_Site_p.T347_splice|MLH1_uc011ayc.2_Splice_Site_p.T249_splice|MLH1_uc011ayd.2_Splice_Site_p.T106_splice|MLH1_uc003cgo.3_Splice_Site_p.T106_splice|MLH1_uc003cgn.4_Splice_Site_p.T106_splice|MLH1_uc010hgg.1_Splice_Site_p.T6_splice|MLH1_uc010hgh.1_Splice_Site_p.T6_splice|MLH1_uc010hgi.1_Splice_Site|MLH1_uc010hgj.1_Splice_Site|MLH1_uc010hgk.3_Splice_Site|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.3_Splice_Site|MLH1_uc010hgm.3_Splice_Site|MLH1_uc010hgo.3_Splice_Site	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	347					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ttAATACAGACTTTGCTACCA	0.353000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					13			8		0	0	0.003080	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138652	22138652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:22138652C>T	uc003xbn.2	+	2	366	c.218C>T	c.(217-219)tCc>tTc	p.S73F	PIWIL2_uc011kzf.1_Missense_Mutation_p.S73F|PIWIL2_uc010ltv.2_Missense_Mutation_p.S73F	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	73					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGTTTGGTCTCCATGTTCCGA	0.418000														41			40		0	0	0.002852	0	0
NFIC	4782	broad.mit.edu	37	19	3381876	3381876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3381876C>T	uc010xhi.2	+	1	267	c.197C>T	c.(196-198)cCc>cTc	p.P66L	NFIC_uc002lxo.3_Missense_Mutation_p.P57L|NFIC_uc010xhh.2_Missense_Mutation_p.P57L|NFIC_uc010xhj.2_Missense_Mutation_p.P66L|NFIC_uc002lxp.3_Missense_Mutation_p.P66L	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	66					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)		GGCGAGAAGCCCGAGGTCAAG	0.642000														49			61		0	0	0.003610	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62483386	62483386	+	Missense_Mutation	SNP	C	T	T	rs755246		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62483386C>T	uc001nuw.3	-	11	2234	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	669	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCCGGTTGTCGTAGCCTCGG	0.612000														13			5		0	0	0.001168	0	0
UBR4	23352	broad.mit.edu	37	1	19477183	19477183	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:19477183A>C	uc001bbi.3	-	48	7322	c.7318T>G	c.(7318-7320)Ttc>Gtc	p.F2440V	UBR4_uc001bbk.1_Missense_Mutation_p.F94V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2440					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCAGAAGGGAATTCTTCTGGG	0.532000														142			58		0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28722066	28722066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28722066G>A	uc002kwn.3	-	8	1418	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	DSC1_uc002kwm.3_Missense_Mutation_p.P386S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	386	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGAGTGAGGAGTGTTTGGC	0.373000														10			28		0	0	0.005443	0	0
ZNF358	140467	broad.mit.edu	37	19	7584404	7584404	+	Silent	SNP	C	T	T	rs146005675		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:7584404C>T	uc002mgn.2	+	1	446	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ZNF358_uc021unu.1_Silent_p.F92F	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	92					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTTCGAGTTTCGACCTCGATC	0.607000														94			24		0	0	0.001786	0	0
HKDC1	80201	broad.mit.edu	37	10	71021021	71021021	+	Silent	SNP	C	T	T	rs148312270		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:71021021C>T	uc001jpf.4	+	15	2476	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	HKDC1_uc010qje.2_Silent_p.F644F|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	781					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGCATCTTCGAAACCAAGT	0.562000														18			14		0	0	0.006122	0	0
RET	5979	broad.mit.edu	37	10	43610163	43610163	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:43610163C>T	uc001jal.3	+	10	2305	c.2115C>T	c.(2113-2115)tcC>tcT	p.S705S	RET_uc001jak.1_Silent_p.S705S|RET_uc010qez.1_Silent_p.S451S	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	705					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.V704V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCAGGTCTCCGTGGATGCCT	0.677000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					9			11		0	0	0.000673	0	0
MTMR7	9108	broad.mit.edu	37	8	17169089	17169089	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:17169089C>T	uc003wxm.3	-	8	1271	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_uc003wxn.3_Silent_p.R123R|MTMR7_uc011kya.2_5'UTR|MTMR7_uc011kyb.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	344	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.R344R(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567000														176			44		0	0	0.003214	0	0
abParts	0	broad.mit.edu	37	14	107013068	107013068	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:107013068C>T	uc021ser.1	-	218		c.8808G>A								Parts of antibodies, mostly variable regions.																		TGTTGTCCCACCATAAGCTTT	0.493000														61			25		0	0	0.004656	0	0
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:7586077C>T	uc003mxp.1	+	23	8861	c.8582C>T	c.(8581-8583)tCc>tTc	p.S2861F	DSP_uc003mxq.1_Missense_Mutation_p.S2262F|DSP_uc021yle.1_Missense_Mutation_p.S2418F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.483000														23			107		0	0	0.003610	0	0
OR2T2	401992	broad.mit.edu	37	1	248616128	248616128	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:248616128C>T	uc001iek.1	+	0	30	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCAGAACTCCACTAACTTCG	0.502000														74			8		0	0	0.000673	0	0
MYH4	4622	broad.mit.edu	37	17	10356210	10356210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:10356210C>T	uc002gmn.3	-	24	3262	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTCTAAGTCCATGCAAAGT	0.373000														15			61		0	0	0.003610	0	0
TEKT5	146279	broad.mit.edu	37	16	10788190	10788190	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:10788190T>A	uc002czz.1	-	0	613	c.541A>T	c.(541-543)Aat>Tat	p.N181Y		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	181					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTCACCTCATTGGCCGCGCAC	0.572000														132			98		0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238267682	238267682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:238267682C>T	uc002vwl.2	-	19	6689	c.6404G>A	c.(6403-6405)aGa>aAa	p.R2135K	COL6A3_uc002vwo.2_Missense_Mutation_p.R1929K|COL6A3_uc010znj.1_Missense_Mutation_p.R1528K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2135	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTACCCTTCTTCCAGGATT	0.418000														198			164		0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802980	185802980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:185802980C>T	uc002uph.3	+	3	3451	c.2857C>T	c.(2857-2859)Cag>Tag	p.Q953*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	953						intracellular	zinc ion binding	p.F952L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATTCCTTTTCAGGTGCCTAA	0.383000														35			33		0	0	0.002096	0	0
CR1	1378	broad.mit.edu	37	1	207796381	207796381	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:207796381C>T	uc001hfy.3	+	36	6110	c.5970C>T	c.(5968-5970)ttC>ttT	p.F1990F	CR1_uc001hfx.3_Silent_p.F2440F|CR1_uc021pij.1_Silent_p.F1990F	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1990					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCATCATTTTCCTCTCTTGGA	0.333000														2			7		0	0	0.000673	0	0
DCTN4	51164	broad.mit.edu	37	5	150138482	150138482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:150138482G>A	uc010jhi.3	-	0	176	c.74C>T	c.(73-75)tCg>tTg	p.S25L	DCTN4_uc003lsu.3_5'Flank|DCTN4_uc003lsv.3_Missense_Mutation_p.S25L|DCTN4_uc010jhj.2_Non-coding_Transcript|DCTN4_uc011dck.1_5'Flank	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	25						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGAGTTGCGAGAGCGGGGC	0.587000														42			39		0	0	0.005524	0	0
ZNF407	55628	broad.mit.edu	37	18	72344766	72344766	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:72344766C>T	uc002llw.2	+	0	1844	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	ZNF407_uc010xfc.2_Silent_p.S597S|ZNF407_uc010dqu.2_Silent_p.S597S|ZNF407_uc002llu.2_Silent_p.S596S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	597					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)		CATTTATATCCTTGGATGAAA	0.378000														22			58		0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156821105	156821105	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156821105G>A	uc010pht.2	-	4	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.P473S	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	402					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTCTCCCCGGATTAGTTTGA	0.517000														126			138		0	0	0.003610	0	0
TMC7	79905	broad.mit.edu	37	16	19032952	19032952	+	Splice_Site	SNP	G	A	A	rs145788880		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19032952G>A	uc002dfp.2	+	4	591	c.461_splice	c.e4-1	p.G154_splice	TMC7_uc010vao.1_Splice_Site_p.G154_splice|TMC7_uc002dfq.3_Splice_Site_p.G154_splice|TMC7_uc010vap.2_Splice_Site_p.G44_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	154						integral to membrane		p.G154G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTTTCCAGGGAAATTTGGCA	0.418000														31			41		0	0	0.003610	0	0
PTPRN	5798	broad.mit.edu	37	2	220161722	220161722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:220161722G>A	uc002vkz.3	-	14	2462	c.2221C>T	c.(2221-2223)Cct>Tct	p.P741S	PTPRN_uc010zlc.2_Missense_Mutation_p.P651S|PTPRN_uc002vla.3_Missense_Mutation_p.P712S|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	741	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGAAGTCAGGATGCCGGTTC	0.637000														72			48		0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1921070	1921070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1921070G>A	uc002qxe.3	-	10	2352	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	MYT1L_uc002qxd.3_Missense_Mutation_p.P507S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	509					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACACCCGGGGGTTGGACAC	0.498000														70			40		0	0	0.002222	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48847122	48847122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:48847122G>A	uc004dly.1	-	7	700	c.665C>T	c.(664-666)tCc>tTc	p.S222F	GRIPAP1_uc004dlz.3_Missense_Mutation_p.S112F|GRIPAP1_uc004dma.3_Missense_Mutation_p.S169F	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	222						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTGCAGCCTGGATGTTTCGGC	0.562000														15			3		0	0	0.000248	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702966	27702966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:27702966C>T	uc001itu.2	-	0	332	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	72					spermatid development	integral to membrane	hedgehog receptor activity	p.G71G(1)		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						GGTGCATCGTCCCCCTCTGGC	0.716000														15			28		0	0	0.006320	0	0
PSD2	84249	broad.mit.edu	37	5	139189270	139189270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:139189270C>T	uc003leu.1	+	1	450	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGCCTAGCCCTGGGGCCA	0.627000														33			45		0	0	0.002852	0	0
CHRD	8646	broad.mit.edu	37	3	184100658	184100658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:184100658C>T	uc003fov.3	+	8	1243	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CHRD_uc003fow.3_Intron|CHRD_uc003fox.3_Missense_Mutation_p.P333S|CHRD_uc003foy.3_Intron|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	333	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACCCAGGTTCCCTTGAGGCT	0.587000														10			20		0	0	0.001216	0	0
GPR12	2835	broad.mit.edu	37	13	27332999	27332999	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:27332999G>A	uc021rhk.1	-	0	966	c.966C>T	c.(964-966)tcC>tcT	p.S322S	GPR12_uc010aal.3_Silent_p.S322S|GPR12_uc010tdl.2_Silent_p.S163S	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	322						integral to plasma membrane		p.P321P(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGGCGAGACTGGACGGGATGC	0.547000														20			31		0	0	0.002096	0	0
MXRA5	25878	broad.mit.edu	37	X	3239627	3239627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3239627C>T	uc004crg.4	-	4	4256	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1367						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)				GAGGATTCTTCCTTAAATTCT	0.468000														10			17		0	0	0.004007	0	0
NPY2R	4887	broad.mit.edu	37	4	156135319	156135319	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:156135319C>T	uc003ioq.3	+	1	717	c.228C>T	c.(226-228)atC>atT	p.I76I	NPY2R_uc003ior.3_Silent_p.I76I|NPY2R_uc021xtm.1_Silent_p.I76I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	76					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ATGTGGTGATCAAATTCAAGA	0.453000														13			18		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794693	140794693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140794693C>T	uc003lkl.2	+	0	1951	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Nonsense_Mutation_p.Q651*|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGCCGTCCAGGACCACGG	0.706000														63			29		0	0	0.001512	0	0
HEATR8	374977	broad.mit.edu	37	1	55145668	55145668	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:55145668C>T	uc010ooe.1	+	12	2655	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.F345F|HEATR8_uc010ood.1_Silent_p.F295F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Intron|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Silent_p.F777F|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	777						integral to membrane	binding	p.S776F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTAGCTCCTTCATGACCGAGG	0.607000														98			43		0	0	0.002852	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														24			4		0	0	0.000248	0	0
COL8A2	1296	broad.mit.edu	37	1	36565053	36565053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:36565053C>T	uc001bzv.2	-	1	236	c.229G>A	c.(229-231)Gga>Aga	p.G77R	COL8A2_uc001bzw.2_Missense_Mutation_p.G12R	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	77	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGGCTCTCCCTTCAGGTCC	0.652000														2			4		0	0	0.000602	0	0
C7	730	broad.mit.edu	37	5	40959697	40959697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:40959697G>A	uc003jmh.3	+	11	1750	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	546	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CACACAATGCGAAGATGAGGA	0.522000														7			4		0	0	0.000248	0	0
LAMB2	3913	broad.mit.edu	37	3	49161987	49161987	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:49161987G>A	uc003cwe.3	-	21	3467	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C	LAMB2_uc003cwf.1_Silent_p.C1056C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1056	Laminin EGF-like 11.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATCACAGTGGCACTGGTCAG	0.602000														23			10		0	0	0.006214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175286	207175286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:207175286C>T	uc002vbp.2	+	4	6284	c.6034C>T	c.(6034-6036)Ctt>Ttt	p.L2012F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2012							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						AGTCTGTGTTCTTTCTTCTTT	0.358000														10			4		0	0	0.000248	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378553	138378553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:138378553G>A	uc022bpi.1	+	0	2197	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K	PPP1R26_uc004cfr.1_Missense_Mutation_p.E733K	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	733						nucleolus	protein binding										GCACTTCTTGGAGCAGCTGGG	0.612000														1			7		0	0	0.001984	0	0
RTN1	6252	broad.mit.edu	37	14	60213184	60213184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:60213184G>A	uc001xen.1	-	1	466	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	86					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CATGGCACTGGAAACACCTGC	0.517000														21			31		0	0	0.003271	0	0
C10orf71	118461	broad.mit.edu	37	10	50532442	50532442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:50532442G>A	uc021pqb.1	+	0	1852	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	C10orf71_uc021pqa.1_Missense_Mutation_p.E617K|C10orf71_uc021pqc.1_Missense_Mutation_p.E618K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	618										endometrium(1)	1						TGAGAACAAGGAGGTGGAAGG	0.552000														4			6		0	0	0.001168	0	0
EPB41	2035	broad.mit.edu	37	1	29365861	29365861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:29365861C>T	uc001brm.2	+	10	1686	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	EPB41_uc001brg.2_Missense_Mutation_p.A311V|EPB41_uc001brh.2_Missense_Mutation_p.A311V|EPB41_uc001brj.2_Missense_Mutation_p.A311V|EPB41_uc001bri.2_Missense_Mutation_p.A485V|EPB41_uc009vtk.2_Missense_Mutation_p.A485V|EPB41_uc001brk.3_Missense_Mutation_p.A520V|EPB41_uc001brl.2_Missense_Mutation_p.A520V|EPB41_uc021okg.1_Missense_Mutation_p.A520V|EPB41_uc009vtm.2_Missense_Mutation_p.A153V|EPB41_uc009vtl.2_Missense_Mutation_p.A311V	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	520	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCAGGCAAGCTAGTGCTCTA	0.488000														44			7		0	0	0.001984	0	0
CHST1	8534	broad.mit.edu	37	11	45671632	45671632	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:45671632T>C	uc021qgn.1	-	0	842	c.842A>G	c.(841-843)aAc>aGc	p.N281S	CHST1_uc001mys.2_Missense_Mutation_p.N281S	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	281					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGACACGGAGTTGGAGAAGTC	0.637000														30			24		0	0	0.005443	0	0
GNB4	59345	broad.mit.edu	37	3	179131545	179131545	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:179131545A>G	uc003fjv.4	-	6	735	c.455T>C	c.(454-456)tTa>tCa	p.L152S	GNB4_uc003fju.4_Missense_Mutation_p.L63S	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	152					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GCTGTCATCTAAAAAACGACA	0.378000														21			7		0	0	0.003080	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316031	30316031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:30316031C>T	uc009xle.2	-	2	3183	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K	KIAA1462_uc001iux.3_Missense_Mutation_p.E1016K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E878K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1016										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGGACCGCTTCACTTGGTTTC	0.567000														42			54		0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318674	79318674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:79318674C>T	uc010mpk.3	-	8	7979	c.7855G>A	c.(7855-7857)Gat>Aat	p.D2619N	PRUNE2_uc004akj.4_Missense_Mutation_p.D72N|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.D72N|PRUNE2_uc022bih.1_Missense_Mutation_p.D2441N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2619					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTCGTATCGCTTTTAGAA	0.483000														5			31		0	0	0.007291	0	0
TBX20	57057	broad.mit.edu	37	7	35288308	35288308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:35288308C>T	uc011kas.2	-	2	1006	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	176						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AACGGCGGGTCGGCCTTGCCA	0.532000														13			32		0	0	0.002836	0	0
TACC1	6867	broad.mit.edu	37	8	38696040	38696041	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:38696040_38696041CC>TT	uc010lwp.3	+	7	2271_2272	c.1892_1893CC>TT	c.(1891-1893)acc>aTT	p.T631I	TACC1_uc011lby.1_Missense_Mutation_p.T436I|TACC1_uc003xma.3_Missense_Mutation_p.T69I|TACC1_uc003xmb.4_Missense_Mutation_p.T557I|TACC1_uc003xlz.3_Missense_Mutation_p.T436I|TACC1_uc003xmc.4_Missense_Mutation_p.T435I|TACC1_uc011lbz.2_Missense_Mutation_p.T618I|TACC1_uc010lwo.1_Missense_Mutation_p.T164I|TACC1_uc003xmf.4_Missense_Mutation_p.T221I|TACC1_uc011lca.2_Missense_Mutation_p.T614I|TACC1_uc011lcb.2_Missense_Mutation_p.T407I|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.T448I|TACC1_uc010lwq.3_Missense_Mutation_p.T448I	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	631					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TACGAAGAGACCCGGCAAGAAG	0.371000														22			33		0	0	0.004672	0	0
C10orf10	11067	broad.mit.edu	37	10	45473430	45473430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:45473430C>T	uc001jbr.4	-	1	339	c.49G>A	c.(49-51)Gag>Aag	p.E17K	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.E17K	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	17						mitochondrion				lung(1)	1						TCCGTGGTCTCCCGAATTGTG	0.612000														53			18		0	0	0.001216	0	0
LIF	3976	broad.mit.edu	37	22	30639706	30639706	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:30639706C>T	uc003agz.2	-	2	655	c.543G>A	c.(541-543)aaG>aaA	p.K181K	LIF_uc011aks.1_3'UTR|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	181					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AGCCCAGCTTCTTCTTCTGGA	0.572000														96			28		0	0	0.006320	0	0
VILL	50853	broad.mit.edu	37	3	38048182	38048183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38048182_38048183CC>TT	uc003chj.3	+	18	2734_2735	c.2448_2449CC>TT	c.(2446-2451)gcccgc>gcTTgc	p.R817C	VILL_uc003chl.3_Missense_Mutation_p.R817C	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	817	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGACCCTGCCCGCAGGGAGGT	0.673000														17			24		0	0	0.004672	0	0
ANO10	55129	broad.mit.edu	37	3	43602842	43602842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:43602842G>A	uc003cmv.3	-	8	1517	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ANO10_uc011azs.2_Missense_Mutation_p.S449F|ANO10_uc003cmw.3_Missense_Mutation_p.S383F|ANO10_uc010hil.3_Missense_Mutation_p.S259F|ANO10_uc011azt.2_Missense_Mutation_p.S338F	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	449					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGGAAGAAAAGATTCCATAAT	0.413000														27			12		0	0	0.001368	0	0
LILRP2	79166	broad.mit.edu	37	19	55220719	55220719	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55220719G>A	uc002qgs.1	+	0		c.1119G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CTGCAGGAAGGGGGTCGGCTC	0.617000														10			4		0	0	0.000602	0	0
GABRG3	2567	broad.mit.edu	37	15	27572069	27572069	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:27572069C>T	uc001zbg.2	+	3	638	c.384C>T	c.(382-384)atC>atT	p.I128I	GABRG3_uc001zbf.3_Silent_p.I128I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	128					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W127S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TAATCTGGATCCCAGACACCA	0.458000														76			16		0	0	0.003163	0	0
MYCBP2	23077	broad.mit.edu	37	13	77751993	77751993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:77751993G>A	uc021rks.1	-	34	5497	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	MYCBP2_uc010aev.3_Missense_Mutation_p.P1110S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTGCATCAGGGGACCCGTTC	0.418000														13			11		0	0	0.000673	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969256	140969256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:140969256C>T	uc011mwp.2	+	3	583	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	195	MAGE 1.							p.L195R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTTTCTTCTCCTCAA	0.443000														44			51		0	0	0.003610	0	0
SPINK7	84651	broad.mit.edu	37	5	147692067	147692067	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:147692067C>T	uc003lpd.3	+	0	78	c.21C>T	c.(19-21)ctC>ctT	p.L7L	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	7						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTCTCCTTCTGCTCT	0.458000														27			18		0	0	0.001216	0	0
DAND5	199699	broad.mit.edu	37	19	13084240	13084240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:13084240G>A	uc002mwc.1	+	1	513	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	121	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			ATACGCCTCCGAAATCATCTG	0.617000														77			13		0	0	0.001855	0	0
FTSJD1	55783	broad.mit.edu	37	16	71318296	71318296	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:71318296A>T	uc021tkr.1	-	0	1528	c.1528T>A	c.(1528-1530)Ttt>Att	p.F510I	FTSJD1_uc010cga.3_Missense_Mutation_p.F510I|FTSJD1_uc002ezy.4_Missense_Mutation_p.F510I|FTSJD1_uc002ezz.4_Missense_Mutation_p.F510I	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	510						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCATTGCAAAAAGGAGAACAT	0.358000														13			17		0	0	0.004007	0	0
PNP	4860	broad.mit.edu	37	14	20940628	20940628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20940628G>A	uc001vxo.4	+	1	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	PNP_uc010ahm.2_Missense_Mutation_p.R58Q|PNP_uc010ahn.3_Missense_Mutation_p.R58Q|PNP_uc021rns.1_5'Flank	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	58					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	p.P57P(1)|p.P57S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	AACTTTCCCCGAAGTACAGGT	0.468000														16			27		0	0	0.005443	0	0
C14orf133	63894	broad.mit.edu	37	14	77910664	77910664	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:77910664G>A	uc001xtt.2	-	8	942	c.525C>T	c.(523-525)ttC>ttT	p.F175F	C14orf133_uc001xtu.2_Silent_p.F175F|C14orf133_uc001xtv.2_Silent_p.F175F|C14orf133_uc021rwu.1_Silent_p.F175F|C14orf133_uc010tvj.2_Silent_p.F126F	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	175					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTAAGGAGCGGAATCTCTCTA	0.398000														41			7		0	0	0.003080	0	0
AHNAK	79026	broad.mit.edu	37	11	62295345	62295345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62295345G>A	uc001ntl.3	-	4	6844	c.6544C>T	c.(6544-6546)Ccc>Tcc	p.P2182S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2182					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)				GAGATCTTGGGGGTCTTGAAG	0.483000														95			56		0	0	0.003610	0	0
MCTP2	55784	broad.mit.edu	37	15	94945194	94945194	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:94945194C>T	uc002btj.3	+	15	2096	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	MCTP2_uc010boj.3_Silent_p.F406F|MCTP2_uc010bok.3_Silent_p.F677F|MCTP2_uc002btk.4_Silent_p.F265F|MCTP2_uc002btl.3_Silent_p.F265F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	677					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATGCAGTTCCTTAAAAGCT	0.353000														23			27		0	0	0.006320	0	0
TACC2	10579	broad.mit.edu	37	10	123970633	123970633	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:123970633G>A	uc001lfv.3	+	8	7053	c.6693G>A	c.(6691-6693)agG>agA	p.R2231R	TACC2_uc001lfw.3_Silent_p.R377R|TACC2_uc009xzx.3_Silent_p.R2186R|TACC2_uc010qtv.2_Silent_p.R2235R|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Silent_p.R309R|TACC2_uc001lga.3_Silent_p.R309R|TACC2_uc009xzy.3_Silent_p.R309R|TACC2_uc001lgb.3_Silent_p.R266R|TACC2_uc010qtw.1_Silent_p.R326R	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2231						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)				CTGTCGGGAGGAAAACGCTGC	0.647000														10			16		0	0	0.004990	0	0
PLIN5	440503	broad.mit.edu	37	19	4523732	4523732	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4523732G>A	uc002mas.3	-	7	1253	c.1200C>T	c.(1198-1200)atC>atT	p.I400I		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	400						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CAGGGCCCCCGATGACCTCGT	0.726000														36			44		0	0	0.002852	0	0
FBXO10	26267	broad.mit.edu	37	9	37537208	37537208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:37537208C>T	uc004aac.3	-	2	1446	c.1366G>A	c.(1366-1368)Ggg>Agg	p.G456R	FBXO10_uc004aab.3_Missense_Mutation_p.G440R|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	440						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTCCCTTCCCGTCCCGGAAG	0.577000														4			38		0	0	0.007835	0	0
DKC1	1736	broad.mit.edu	37	X	153995569	153995569	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153995569C>T	uc004fmm.3	+	6	762	c.552C>T	c.(550-552)ccC>ccT	p.P184P	DKC1_uc010nvf.3_Silent_p.P184P|SNORA36A_uc004fmn.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	184					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity	p.R183Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCAGCGACCCCCACTTATTG	0.448000									Congenital Dyskeratosis					131			53		0	0	0.003610	0	0
SLC6A3	6531	broad.mit.edu	37	5	1432648	1432649	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1432648_1432649CC>TT	uc003jck.3	-	3	709_710	c.583_584GG>AA	c.(583-585)ggt>AAt	p.G195N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	195					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACTGGAGTCACCAGGATGGGCA	0.599000														39			23		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82585844	82585844	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82585844C>T	uc003uhx.2	-	4	4714	c.4425G>A	c.(4423-4425)agG>agA	p.R1475R	PCLO_uc003uhv.2_Silent_p.R1475R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1406					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTGTCTTTCCTTTCTTCTT	0.373000														43			7		0	0	0.003080	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919953	12919953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12919953G>A	uc001aum.1	+	2	780	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	231										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGGAGATGAAGACTCTTT	0.408000														40			33		0	0	0.002836	0	0
PCLO	27445	broad.mit.edu	37	7	82583596	82583596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82583596C>T	uc003uhx.2	-	4	6962	c.6673G>A	c.(6673-6675)Gaa>Aaa	p.E2225K	PCLO_uc003uhv.2_Missense_Mutation_p.E2225K|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2156					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGAAATTTCCTCAGAATCT	0.403000														12			15		0	0	0.003163	0	0
UBN1	29855	broad.mit.edu	37	16	4927460	4927460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:4927460C>T	uc002cyb.3	+	16	3679	c.3340C>T	c.(3340-3342)Ccg>Tcg	p.P1114S	UBN1_uc010uxw.2_Intron|UBN1_uc002cyc.3_Missense_Mutation_p.P1114S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1114					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CACCCATATCCCGCAGAGTCT	0.632000														124			54		0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	124181382	124181382	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124181382G>A	uc003ehg.3	+	24	4054	c.3927G>A	c.(3925-3927)tgG>tgA	p.W1309*	KALRN_uc010hrv.1_Nonsense_Mutation_p.W1300*|KALRN_uc003ehf.1_Nonsense_Mutation_p.W1309*|KALRN_uc011bjy.1_Nonsense_Mutation_p.W1300*|KALRN_uc003ehh.1_Nonsense_Mutation_p.W655*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1309	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTACCTGTGGGAAATGACCA	0.453000														28			8		0	0	0.003080	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127464	45127464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:45127464G>A	uc010wkj.1	+	1	1016	c.662G>A	c.(661-663)gGg>gAg	p.G221E	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1357						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCACAAGGGGCTTTTTCA	0.423000														136			21		0	0	0.001512	0	0
CYLD	1540	broad.mit.edu	37	16	50826577	50826577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:50826577C>T	uc021tib.1	+	13	2434	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	CYLD_uc010cbs.1_Missense_Mutation_p.P768S|CYLD_uc002egp.1_Missense_Mutation_p.P768S|CYLD_uc002egq.1_Missense_Mutation_p.P768S|CYLD_uc002egr.1_Missense_Mutation_p.P768S|CYLD_uc021tic.1_Non-coding_Transcript	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	771					Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAATTTTTCCTTCTCTGGA	0.274000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					1			6		0	0	0.001168	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269109	30269109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:30269109G>A	uc022buh.1	+	0	499	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MAGEB1_uc004dcc.3_Missense_Mutation_p.E167K|MAGEB1_uc004dcd.3_Missense_Mutation_p.E167K|MAGEB1_uc004dce.3_Missense_Mutation_p.E167K	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	167	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGATTTGAAGGAAGACAACCC	0.488000														5			9		0	0	0.006214	0	0
COL6A3	1293	broad.mit.edu	37	2	238296652	238296652	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:238296652G>A	uc002vwl.2	-	3	1170	c.885C>T	c.(883-885)tcC>tcT	p.S295S	COL6A3_uc002vwo.2_Silent_p.S89S|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Silent_p.S89S|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Silent_p.S295S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	295	Nonhelical region.|VWFA 2.				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)		AGGTGTCCAAGGAGAACATGG	0.547000														41			18		0	0	0.006122	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815203	89815204	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:89815203_89815204GG>AA	uc003kjr.3	-	2	501_502	c.353_354CC>TT	c.(352-354)acc>aTT	p.T118I	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_Nonsense_Mutation_p.R99*	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	118					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AAAGTGTTTCGGTCAAGGAACT	0.386000														17			17		0	0	0.004672	0	0
PROKR2	128674	broad.mit.edu	37	20	5294827	5294827	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:5294827G>A	uc010zqw.2	-	0	197	c.189C>T	c.(187-189)atC>atT	p.I63I	PROKR2_uc010zqx.2_Silent_p.I63I|PROKR2_uc010zqy.2_Silent_p.I63I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGACCAGCATGATGCCTGCCA	0.527000										HNSCC(71;0.22)				94			58		0	0	0.003610	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50467034	50467034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:50467034C>T	uc001vdk.2	+	0	2490	c.2308C>T	c.(2308-2310)Ccc>Tcc	p.P770S						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TGGATTTTCCCCCCCTACCCG	0.517000														17			9		0	0	0.004482	0	0
CLDN6	9074	broad.mit.edu	37	16	3065693	3065693	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:3065693C>T	uc021tbb.1	-	0	330	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CLDN6_uc002csu.4_Silent_p.E110E	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	110					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGAATCCTTCTCCTCCACAC	0.607000														37			19		0	0	0.006122	0	0
DMXL2	23312	broad.mit.edu	37	15	51780227	51780227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:51780227G>A	uc010ufy.2	-	21	5366	c.5141C>T	c.(5140-5142)tCc>tTc	p.S1714F	DMXL2_uc002abf.3_Missense_Mutation_p.S1714F|DMXL2_uc010bfa.3_Missense_Mutation_p.S1078F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1714						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCAAGTAAGGAAAAAGCATT	0.373000														61			95		0	0	0.003610	0	0
RANBP17	64901	broad.mit.edu	37	5	170668103	170668103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:170668103C>T	uc003mba.3	+	22	2736	c.2594C>T	c.(2593-2595)gCt>gTt	p.A865V	RANBP17_uc003mbb.3_Missense_Mutation_p.A190V|RANBP17_uc003mbd.3_Missense_Mutation_p.A228V|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	865					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTACTCCAGGCTTTTGTCAAA	0.433000			T	TRD@	ALL									52			54		0	0	0.003610	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409764	69409764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:69409764C>T	uc002sfg.3	+	15	1681	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S442S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGGCCTTCTTCCCCCCGGAAG	0.423000									Familial Infantile Hemangioma					35			28		0	0	0.001512	0	0
ACPL2	92370	broad.mit.edu	37	3	141011793	141011793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:141011793C>T	uc003etu.3	+	7	1488	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	ACPL2_uc003etv.3_Missense_Mutation_p.P397S|ACPL2_uc011bna.2_Missense_Mutation_p.P359S|ACPL2_uc011bnb.2_Missense_Mutation_p.P380S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	397						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCAGGTTCCCAAGGTTTGC	0.507000														107			15		0	0	0.004990	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912841	94912841	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:94912841C>T	uc001ydd.1	-	2	804	c.744G>A	c.(742-744)aaG>aaA	p.K248K		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	248					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A248V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGTGCATTTCCTTTTGGTGCA	0.527000														84			40		0	0	0.001951	0	0
GRID1	2894	broad.mit.edu	37	10	87373164	87373164	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:87373164C>T	uc001kdl.1	-	15	2702	c.2601_splice	c.e15+1	p.E867_splice	GRID1_uc009xsu.1_Splice_Site|GRID1_uc010qmf.1_Splice_Site_p.E438_splice	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	867						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGGTGCTGACCTCCTTGGGGG	0.607000										Multiple Myeloma(13;0.14)				23			8		0	0	0.003080	0	0
SF3B1	23451	broad.mit.edu	37	2	198273101	198273101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:198273101G>A	uc002uue.3	-	7	1157	c.1109C>T	c.(1108-1110)cCt>cTt	p.P370L		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	370	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.T369T(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACCTGGAGTAGGGGTAGCCAT	0.423000			Mis		myelodysplastic syndrome									48			24		0	0	0.002299	0	0
MORC1	27136	broad.mit.edu	37	3	108819338	108819338	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108819338G>A	uc003dxl.3	-	4	327	c.240C>T	c.(238-240)atC>atT	p.I80I	MORC1_uc011bhn.2_Silent_p.I80I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	80					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGTAAATGATGTCTGAAG	0.433000														30			40		0	0	0.003610	0	0
MCF2	4168	broad.mit.edu	37	X	138698533	138698533	+	Missense_Mutation	SNP	C	T	T	rs41304534	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:138698533C>T	uc011mwn.1	-	11	1540	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MCF2_uc004fav.3_Missense_Mutation_p.E367K|MCF2_uc004fau.3_Missense_Mutation_p.E367K|MCF2_uc010nsh.2_Missense_Mutation_p.E367K|MCF2_uc011mwm.2_Missense_Mutation_p.E328K|MCF2_uc011mwl.2_Missense_Mutation_p.E328K|MCF2_uc011mwo.1_Missense_Mutation_p.E427K|MCF2_uc004faw.2_Missense_Mutation_p.E427K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	367	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R512*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGAAAATTTTCAATGTCTTGG	0.373000														9			7		0	0	0.001984	0	0
HTR1F	3355	broad.mit.edu	37	3	88040303	88040303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:88040303G>A	uc003dqr.2	+	1	562	c.404G>A	c.(403-405)aGg>aAg	p.R135K	HTR1F_uc021xbd.1_Missense_Mutation_p.R135K	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	135					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCCAGGAAAAGGACTCCAAAG	0.438000														37			13		0	0	0.001855	0	0
RASGRP4	115727	broad.mit.edu	37	19	38904084	38904084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:38904084C>T	uc021uub.1	-	9	1475	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.E352K|RASGRP4_uc021uua.1_Missense_Mutation_p.E387K|RASGRP4_uc021uuc.1_Missense_Mutation_p.E329K|RASGRP4_uc021uud.1_Missense_Mutation_p.E324K|RASGRP4_uc021uue.1_Missense_Mutation_p.E232K|RASGRP4_uc021uuf.1_Missense_Mutation_p.E407K	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	421	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCATAGATCTCGTCTTCCGTG	0.612000														4			8		0	0	0.003080	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954765	72954765	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:72954765G>A	uc010uks.1	+	10	1061	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	340										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGAGACTCCAGGAGCAGGAGG	0.562000														67			68		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10297626	10297626	+	Silent	SNP	C	T	T	rs140525529		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:10297626C>T	uc002gmm.2	-	34	5201	c.5106G>A	c.(5104-5106)agG>agA	p.R1702R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1702					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1702R(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCGATTTTCCTGCTTCTCT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					11			53		0	0	0.003610	0	0
TMC6	11322	broad.mit.edu	37	17	76115085	76115085	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:76115085G>A	uc002juj.1	-	13	1980	c.1854C>T	c.(1852-1854)atC>atT	p.I618I	TMC6_uc002jui.1_Silent_p.I197I|TMC6_uc010dhf.1_Silent_p.I451I|TMC6_uc002juk.2_Silent_p.I618I|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.I618I	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	618						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCTTGATGATCTGCACGG	0.682000														11			4		0	0	0.000602	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055040	72055040	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:72055040T>C	uc001xms.3	+	1	812	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S151P|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S151P|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S151P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	151					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACATGGACTCCAGATTTCT	0.478000														35			23		0	0	0.002780	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103596364	103596364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:103596364G>A	uc001ymm.1	+	3	1132	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	TNFAIP2_uc010awo.1_Missense_Mutation_p.R46Q|TNFAIP2_uc010txz.1_Missense_Mutation_p.R3Q|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	334					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TTGATGGACCGAGCTCTGGAG	0.642000														35			34		0	0	0.004878	0	0
NLRP8	126205	broad.mit.edu	37	19	56459592	56459592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56459592G>A	uc002qmh.3	+	0	395	c.324G>A	c.(322-324)atG>atA	p.M108I	NLRP8_uc010etg.3_Missense_Mutation_p.M108I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	108	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)		TTGCCATTATGAACTGTGATA	0.507000														20			33		0	0	0.003755	0	0
DNAH17	8632	broad.mit.edu	37	17	76548882	76548882	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:76548882C>T	uc010dhp.2	-	14	2309	c.2184G>A	c.(2182-2184)aaG>aaA	p.K728K	DNAH17_uc002jvv.2_Silent_p.K430K	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCACTATAGTCTTTATCTGAA	0.378000														107			140		0	0	0.003610	0	0
SHF	90525	broad.mit.edu	37	15	45467505	45467505	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45467505G>A	uc001zuy.3	-	3	1059	c.564C>T	c.(562-564)tcC>tcT	p.S188S	SHF_uc010uen.2_Silent_p.S51S|SHF_uc010ueo.2_Silent_p.S51S|SHF_uc010ues.1_Silent_p.S51S|SHF_uc010uet.1_Silent_p.S51S|SHF_uc010ueu.2_Silent_p.S51S	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CTGGCAGGCGGGACTCCCGGG	0.627000														4			6		0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3240467	3240467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3240467C>T	uc004crg.4	-	4	3416	c.3259G>A	c.(3259-3261)Ggc>Agc	p.G1087S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1087						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)				CTCTCTTGGCCCTCACTCTCA	0.473000														11			36		0	0	0.007835	0	0
CLIP4	79745	broad.mit.edu	37	2	29368224	29368224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29368224C>T	uc002rmv.3	+	7	1251	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CLIP4_uc002rmu.3_Missense_Mutation_p.P338S|CLIP4_uc010ezm.1_Missense_Mutation_p.P338S|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.P320S	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	338	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAAATGTGCCCCCAAGTATGG	0.338000														25			10		0	0	0.006214	0	0
CACNA1E	777	broad.mit.edu	37	1	181767745	181767745	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:181767745C>T	uc009wxt.3	+	47	6912	c.6717C>T	c.(6715-6717)tcC>tcT	p.S2239S	CACNA1E_uc001gow.3_Silent_p.S2196S|CACNA1E_uc009wxs.3_Silent_p.S2177S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2239					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGAAGACTCCCACGCCTCAG	0.637000														13			5		0	0	0.000602	0	0
CXorf66	347487	broad.mit.edu	37	X	139038338	139038338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:139038338G>A	uc004fbb.3	-	2	825	c.803C>T	c.(802-804)cCc>cTc	p.P268L		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	268						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTCTTGTAGGGTTGACAAGT	0.393000														38			46		0	0	0.002852	0	0
RNF111	54778	broad.mit.edu	37	15	59383267	59383267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:59383267C>T	uc002afv.3	+	11	2932	c.2653C>T	c.(2653-2655)Cat>Tat	p.H885Y	RNF111_uc002afs.3_Missense_Mutation_p.H885Y|RNF111_uc002aft.3_Missense_Mutation_p.H894Y|RNF111_uc002afu.3_Missense_Mutation_p.H884Y|RNF111_uc002afw.3_Missense_Mutation_p.H894Y|RNF111_uc002afx.3_Missense_Mutation_p.H411Y|RNF111_uc002afy.3_Missense_Mutation_p.H36Y	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	885					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GGAACTGATTCATTTGGAAGA	0.338000														46			66		0	0	0.003610	0	0
CXCR1	3577	broad.mit.edu	37	2	219028998	219028998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:219028998G>A	uc021vwq.1	-	0	937	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	CXCR1_uc002vhc.3_Missense_Mutation_p.R313C|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	313					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AATCCATGGCGAAAATTTTGG	0.527000														48			21		0	0	0.001523	0	0
OR7E24	26648	broad.mit.edu	37	19	9361724	9361724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9361724C>T	uc002mlb.1	+	0	5	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTACTTATGTCCTATTTTCCA	0.388000														0			3		0	0	0.004672	0	0
ACR	49	broad.mit.edu	37	22	51178327	51178327	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:51178327C>T	uc003bnh.4	+	2	499	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Silent_p.L163L	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	163	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGCTGCCTGCCCCACTT	0.572000														36			80		0	0	0.003610	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36943146	36943146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:36943146G>A	uc002hqs.3	-	1	668	c.187C>T	c.(187-189)Cct>Tct	p.P63S	PIP4K2B_uc021twj.1_Missense_Mutation_p.P63S	NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	63	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCATGACAGGAACAGGAACA	0.463000														18			115		0	0	0.003610	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055909	17055909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:17055909C>T	uc003wxe.3	+	5	860	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	155						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GAAGATGGATCATCATTGTCC	0.264000														8			15		0	0	0.006122	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909347	909347	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:909347G>A	uc001ace.3	+	12	1760	c.1725G>A	c.(1723-1725)aaG>aaA	p.K575K	PLEKHN1_uc001acd.3_Silent_p.K523K|PLEKHN1_uc001acf.3_Silent_p.K488K	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	575										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTCCAAGAAGGGAGCCCTGC	0.701000														12			3		0	0	0.004672	0	0
MACF1	23499	broad.mit.edu	37	1	39801408	39801409	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:39801408_39801409CC>TT	uc021olw.1	+	0	4468_4469	c.4468_4469CC>TT	c.(4468-4470)cct>TTt	p.P1490F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3055					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAGTGGTACCTCAAGGAATT	0.356000														28			6		0	0	0.004672	0	0
TPO	7173	broad.mit.edu	37	2	1440077	1440077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1440077C>T	uc002qwr.3	+	4	489	c.403C>T	c.(403-405)Cct>Tct	p.P135S	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.P135S|TPO_uc002qww.3_Missense_Mutation_p.P135S|TPO_uc002qwx.3_Missense_Mutation_p.P135S|TPO_uc002qwu.3_Missense_Mutation_p.P135S|TPO_uc010yio.2_Missense_Mutation_p.P135S|TPO_uc010yip.2_Missense_Mutation_p.P135S	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	135					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)	TGGATGTCTCCCTTACATGCT	0.433000														38			23		0	0	0.002299	0	0
CARD11	84433	broad.mit.edu	37	7	2976739	2976739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:2976739C>T	uc003smv.3	-	8	1607	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	425					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.E425K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCAGGCCTCCCGCCGCACC	0.607000			Mis		DLBCL									35			9		0	0	0.000978	0	0
ABCA3	21	broad.mit.edu	37	16	2369609	2369609	+	Silent	SNP	G	A	A	rs149038393		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2369609G>A	uc002cpy.1	-	7	1558	c.846C>T	c.(844-846)gtC>gtT	p.V282V	ABCA3_uc010bsk.1_Silent_p.V282V|ABCA3_uc010bsl.1_Silent_p.V282V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	282					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V282V(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCTCCTGCACGACAGCACGGG	0.617000														45			30		0	0	0.001786	0	0
EPHA1	2041	broad.mit.edu	37	7	143095447	143095447	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143095447C>T	uc003wcz.3	-	6	1518	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	477	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGTCAGGTTCGCCCCAGGGC	0.607000														31			55		0	0	0.003610	0	0
LOC646813	646813	broad.mit.edu	37	11	50375289	50375289	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:50375289C>T	uc001nhe.2	+	2		c.180C>T			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TCCTGAAGTTCACATTGTTCT	0.328000														17			4		0	0	0.000602	0	0
SYMPK	8189	broad.mit.edu	37	19	46318911	46318911	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:46318911G>A	uc002pdn.3	-	26	3977	c.3732C>T	c.(3730-3732)ccC>ccT	p.P1244P	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1244					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGAGGGTCTGGGGGCTCCGCT	0.687000														19			6		0	0	0.001168	0	0
DLG2	1740	broad.mit.edu	37	11	83195190	83195190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:83195190C>T	uc001paj.2	-	16	2263	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc021qof.1_Missense_Mutation_p.E693K|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.E759K|DLG2_uc010rtb.1_Missense_Mutation_p.E621K|DLG2_uc010rsx.1_Intron|DLG2_uc010rsw.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	654						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACTGGTTTCCTGCTCACTC	0.408000														16			7		0	0	0.001984	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554238	45554238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45554238G>A	uc001zva.2	+	3	261	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	66					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTTCAGCAAAGCAAGAAGTTT	0.398000														61			37		0	0	0.001951	0	0
NPAS3	64067	broad.mit.edu	37	14	33836458	33836458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:33836458G>A	uc001wru.3	+	3	516	c.452G>A	c.(451-453)gGa>gAa	p.G151E	NPAS3_uc001wrs.3_Missense_Mutation_p.G138E|NPAS3_uc001wrv.3_Missense_Mutation_p.G121E|NPAS3_uc001wrt.3_Missense_Mutation_p.G119E|NPAS3_uc001wrw.3_Missense_Mutation_p.G49E	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	151	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCACATTTGGGAAGCCACATT	0.313000														16			3		0	0	0.000248	0	0
AZGP1	563	broad.mit.edu	37	7	99565973	99565973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:99565973C>T	uc003ush.3	-	2	510	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	140					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.D140N(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCTTTCCATCATAGTAATAT	0.498000														86			147		0	0	0.003610	0	0
SV2C	22987	broad.mit.edu	37	5	75594628	75594628	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:75594628G>A	uc003kei.1	+	9	1646	c.1512G>A	c.(1510-1512)ggG>ggA	p.G504G		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	504					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GATTCATAGGGGTCAAGTTCA	0.373000														43			11		0	0	0.001368	0	0
NES	10763	broad.mit.edu	37	1	156639958	156639958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156639958C>T	uc001fpq.3	-	3	4155	c.4022G>A	c.(4021-4023)gGc>gAc	p.G1341D	NES_uc021pbh.1_Missense_Mutation_p.G259D	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1341	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.G1341G(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCTCAAGGCCCTCGGAAGC	0.637000														53			26		0	0	0.004656	0	0
NDRG1	10397	broad.mit.edu	37	8	134274295	134274295	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:134274295G>A	uc003yuh.2	-	4	907	c.321C>T	c.(319-321)ccC>ccT	p.P107P	NDRG1_uc003yug.2_Silent_p.P107P|NDRG1_uc010mee.2_Silent_p.P26P|NDRG1_uc010mef.2_Silent_p.P41P|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	107					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCACCCTGCGGGGAAGGAGG	0.582000			T	ERG	prostate									22			50		0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205272647	205272647	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:205272647G>A	uc001hce.3	-	6	1945	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	606					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGTCTGTCAGGGAAAAGCAGC	0.642000														24			21		0	0	0.001523	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960201	117960201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:117960201C>T	uc004equ.3	+	3	1467	c.994C>T	c.(994-996)Cct>Tct	p.P332S	ZCCHC12_uc022cdh.1_Missense_Mutation_p.P332S	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAATAACGGTCCTGGGGAGAT	0.517000														61			23		0	0	0.002780	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145660	25145660	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:25145660C>T	uc003abd.1	-	10	1633	c.1216_splice	c.e10+1	p.G406_splice	PIWIL3_uc011ajx.1_Splice_Site_p.G297_splice|PIWIL3_uc010gut.1_Splice_Site_p.G406_splice|PIWIL3_uc011ajy.1_Splice_Site_p.G297_splice	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	406	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATCAGTACCTGTCATGTGG	0.488000														27			7		0	0	0.004482	0	0
FLNB	2317	broad.mit.edu	37	3	58134480	58134480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:58134480G>A	uc003djj.2	+	35	6157	c.5992G>A	c.(5992-5994)Gag>Aag	p.E1998K	FLNB_uc010hne.2_Missense_Mutation_p.E2029K|FLNB_uc003djk.2_Missense_Mutation_p.E1987K|FLNB_uc010hnf.2_Missense_Mutation_p.E1974K|FLNB_uc003djl.2_Missense_Mutation_p.E1818K|FLNB_uc003djm.2_Missense_Mutation_p.E1805K|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1998	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTCCAGTCGGAGATTGGTGA	0.577000														40			10		0	0	0.006214	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026062	103026062	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:103026062C>T	uc001phn.1	+	24	3720	c.3576C>T	c.(3574-3576)atC>atT	p.I1192I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I1192I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1192	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTAACAGATCGTAATTCCTA	0.338000														11			4		0	0	0.000602	0	0
CTNND2	1501	broad.mit.edu	37	5	11022918	11022918	+	Missense_Mutation	SNP	C	T	T	rs150013185		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:11022918C>T	uc003jfa.1	-	16	3107	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	CTNND2_uc010itt.2_Missense_Mutation_p.E897K|CTNND2_uc011cmy.1_Missense_Mutation_p.E651K|CTNND2_uc011cmz.1_Missense_Mutation_p.E555K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.E580K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	988					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I987I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCAACTTCTCGATGCCACCG	0.493000														30			43		0	0	0.003610	0	0
ATG7	10533	broad.mit.edu	37	3	11348436	11348436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:11348436C>T	uc003bwc.3	+	3	352	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	ATG7_uc003bwd.3_Missense_Mutation_p.R79C|ATG7_uc011aum.2_Missense_Mutation_p.R79C	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	79					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACCCCAGCCCGTTGCTGCCC	0.512000														60			85		0	0	0.003610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348960	47348960	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47348960C>T	uc001cqo.1	-	4		c.542G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGTGTTCCTCCCATTTGTTCT	0.468000														14			12		0	0	0.002450	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798283	54798283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:54798283G>A	uc003dhf.3	+	12	1333	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E335K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E163K	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	429	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGATGTGCAGGAGAATGTCAT	0.488000														79			17		0	0	0.006122	0	0
MDC1	9656	broad.mit.edu	37	6	30671501	30671501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30671501G>A	uc003nrg.4	-	9	5899	c.5459C>T	c.(5458-5460)tCa>tTa	p.S1820L	MDC1_uc003nrf.4_Missense_Mutation_p.S451L|MDC1_uc011dmp.1_Missense_Mutation_p.S1427L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1820	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ATGTGGTGGTGAATCCATGGT	0.507000								Other conserved DNA damage response genes						32			129		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13717604	13717604	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13717604C>T	uc003jfd.2	-	72	12567	c.12525G>A	c.(12523-12525)gtG>gtA	p.V4175V	DNAH5_uc003jfc.2_Silent_p.V343V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4175	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCAGAGCTCACGTCCAGCA	0.498000									Kartagener syndrome					16			12		0	0	0.001855	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603128	140603128	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140603128C>T	uc003ljb.3	+	0	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	17					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTAATATTCCTTGTTTTGC	0.458000														17			14		0	0	0.001855	0	0
MS4A1	931	broad.mit.edu	37	11	60235761	60235761	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:60235761G>A	uc009yna.3	+	6	1041	c.714G>A	c.(712-714)caG>caA	p.Q238Q	MS4A1_uc009ymz.3_Silent_p.Q225Q|MS4A1_uc010rlc.2_Silent_p.Q71Q|MS4A1_uc001npp.3_Silent_p.Q238Q|MS4A1_uc001npq.3_Silent_p.Q238Q	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	238					B cell activation|immune response	integral to plasma membrane		p.E237*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AAAAAGAACAGACTATTGAAA	0.338000														10			4		0	0	0.000602	0	0
C10orf71	118461	broad.mit.edu	37	10	50531812	50531812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:50531812G>A	uc021pqb.1	+	0	1222	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S	C10orf71_uc021pqa.1_Missense_Mutation_p.G407S|C10orf71_uc021pqc.1_Missense_Mutation_p.G408S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	408										endometrium(1)	1						CAACCAGAGAGGCCCACCTTT	0.468000														25			31		0	0	0.003271	0	0
MED13	9969	broad.mit.edu	37	17	60062045	60062045	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:60062045C>T	uc002izo.3	-	13	2735	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	886					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACAGAATCCCTCATCAACCT	0.318000														6			38		0	0	0.002852	0	0
NDN	4692	broad.mit.edu	37	15	23931405	23931405	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:23931405C>T	uc001ywk.3	-	0	1046	c.960G>A	c.(958-960)gaG>gaA	p.E320E		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	320					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTTGCTAGTCCTCAGAGACAC	0.577000									Prader-Willi syndrome					48			71		0	0	0.003610	0	0
ITIH6	347365	broad.mit.edu	37	X	54823447	54823447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54823447G>A	uc004dtj.2	-	1	215	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	62	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TTCAGCATGTGGATTAAACAG	0.473000														37			13		0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	20974997	20974997	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20974997C>T	uc010vbe.2	-	52	10209	c.10209G>A	c.(10207-10209)ctG>ctA	p.L3403L	DNAH3_uc010vbd.2_Silent_p.L838L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3403					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGGTTATCCAGTGCGATGC	0.532000														30			17		0	0	0.007413	0	0
DNAH10	196385	broad.mit.edu	37	12	124418052	124418052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124418052G>A	uc001uft.4	+	75	13142	c.13117G>A	c.(13117-13119)Gga>Aga	p.G4373R	DNAH10_uc001ufu.4_Missense_Mutation_p.G286R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4373					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGCGGGCGGGACAAGGTAC	0.577000														17			31		0	0	0.002836	0	0
CDCA3	83461	broad.mit.edu	37	12	6958788	6958788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:6958788G>A	uc001qrg.2	-	3	613	c.485C>T	c.(484-486)cCt>cTt	p.P162L	CDCA3_uc001qre.2_Missense_Mutation_p.P162L|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	162					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GCTGGCCACAGGGGTTTCTGT	0.522000														17			101		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48621170	48621170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:48621170G>A	uc003ctz.2	-	38	4323	c.4322C>T	c.(4321-4323)cCt>cTt	p.P1441L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1441	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1441S(2)|p.P1440P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCTTTCCAGGGGGGCCAAC	0.577000														35			61		0	0	0.003610	0	0
OR4D1	26689	broad.mit.edu	37	17	56232809	56232809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:56232809G>A	uc010wno.2	+	0	295	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGGCTGCATGGCCCAGATCTT	0.527000														19			133		0	0	0.003610	0	0
TTC16	158248	broad.mit.edu	37	9	130493071	130493071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:130493071G>A	uc004brq.1	+	13	2076	c.2009G>A	c.(2008-2010)aGa>aAa	p.R670K	TTC16_uc011mai.1_Missense_Mutation_p.R657K|TTC16_uc004brr.1_3'UTR|TTC16_uc010mxn.1_Missense_Mutation_p.R266K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	670							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CATGGTCCCAGAAAAATCAAG	0.577000														6			41		0	0	0.006999	0	0
FLNC	2318	broad.mit.edu	37	7	128486888	128486888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128486888C>T	uc003vnz.4	+	23	4426	c.4217C>T	c.(4216-4218)aCc>aTc	p.T1406I	FLNC_uc003voa.4_Missense_Mutation_p.T1406I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1406					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTAGCTGCACCGTGGAGTAC	0.612000														69			9		0	0	0.006214	0	0
ARNT2	9915	broad.mit.edu	37	15	80869278	80869278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:80869278C>T	uc002bfr.3	+	14	1751	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	ARNT2_uc010unm.2_Missense_Mutation_p.P518S|ARNT2_uc002bfs.3_Missense_Mutation_p.P518S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	529					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AAGCCCATTTCCCTCTGGACA	0.572000														30			86		0	0	0.003610	0	0
ABHD1	84696	broad.mit.edu	37	2	27353480	27353480	+	Silent	SNP	G	A	A	rs147790643	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27353480G>A	uc002rit.3	+	8	1246	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	362						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGCTTCCTGGAAGGGCTGC	0.632000														48			41		0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179413262	179413263	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179413262_179413263CC>TT	uc021vsy.1	-	287	85611_85612	c.85386_85387GG>AA	c.(85384-85389)cgggga>cgAAga	p.G28463R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G22158R|TTN_uc021vta.1_Missense_Mutation_p.G22091R|TTN_uc021vtb.1_Missense_Mutation_p.G21966R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29390	Fibronectin type-III 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGCAGATCCCCGGGTCACAT	0.510000														64			39		0	0	0.004672	0	0
QRICH2	84074	broad.mit.edu	37	17	74274117	74274117	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:74274117G>A	uc002jrd.1	-	14	4752	c.4572C>T	c.(4570-4572)atC>atT	p.I1524I	QRICH2_uc010dgw.1_Silent_p.I368I	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1524							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCAGCTCGCGGATTATCTGGC	0.642000														69			81		0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40384138	40384138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:40384138C>T	uc002omp.4	-	20	9480	c.9472G>A	c.(9472-9474)Gag>Aag	p.E3158K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3158	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACAGACCTCATAGTGGCTG	0.617000														195			25		0	0	0.001512	0	0
OR1N2	138882	broad.mit.edu	37	9	125315593	125315593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125315593C>T	uc011lyx.2	+	0	145	c.145C>T	c.(145-147)Ctt>Ttt	p.L49F		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGGCATCTTCCTTGGCATGTA	0.527000														27			14		0	0	0.003163	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712504	187712504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:187712504G>A	uc002upu.1	-	1	224	c.184C>T	c.(184-186)Cac>Tac	p.H62Y		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	62					apoptosis		zinc ion binding	p.H62N(2)|p.H62Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTACAAACGTGAGGATTTCCT	0.343000														31			28		0	0	0.001512	0	0
KLF12	11278	broad.mit.edu	37	13	74420439	74420439	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:74420439G>A	uc001vjf.3	-	3	417	c.195C>T	c.(193-195)ccC>ccT	p.P65P	KLF12_uc010aeq.3_Silent_p.P65P|KLF12_uc001vjg.3_Silent_p.P65P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	65					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AGTCCTCCGGGGGCTCCCCTT	0.473000														32			30		0	0	0.002445	0	0
NPHS1	4868	broad.mit.edu	37	19	36321760	36321760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36321760C>T	uc002oby.3	-	27	3736	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1194	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.D1194N(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACTTCATCGTAGAGGGGT	0.527000														31			57		0	0	0.003610	0	0
DZIP1	22873	broad.mit.edu	37	13	96293735	96293735	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:96293735G>A	uc001vmk.3	-	4	1263	c.411C>T	c.(409-411)ttC>ttT	p.F137F	DZIP1_uc001vml.3_Silent_p.F137F	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	137					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCGAGGTGAGGAACTCTTGTG	0.632000														9			20		0	0	0.007413	0	0
IRGC	56269	broad.mit.edu	37	19	44223817	44223817	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44223817G>A	uc002oxh.3	+	1	1254	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	IRGC_uc021uvh.1_Silent_p.G369G	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	369						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGTGTTTGGGACGCTGGTGG	0.652000														17			23		0	0	0.003330	0	0
TMC7	79905	broad.mit.edu	37	16	19051673	19051673	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19051673C>T	uc002dfp.2	+	8	1372	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	TMC7_uc010vao.1_Missense_Mutation_p.H409Y|TMC7_uc002dfq.3_Silent_p.I414I|TMC7_uc010vap.2_Silent_p.I304I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	414						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTATTGTGATCACGCTGGCCA	0.403000														35			45		0	0	0.003214	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280227	18280227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:18280227G>A	uc001ipo.2	+	7	1690	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	SLC39A12_uc001ipn.2_Missense_Mutation_p.D473N|SLC39A12_uc001ipp.2_Missense_Mutation_p.D473N|SLC39A12_uc010qck.1_Missense_Mutation_p.D339N	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	473					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATCACCAAATGACAAGGTATA	0.303000														24			11		0	0	0.000673	0	0
ZNF648	127665	broad.mit.edu	37	1	182025680	182025680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:182025680G>A	uc001goz.3	-	1	1674	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	ZNF648_uc021pfu.1_Missense_Mutation_p.S489L	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTTCAGGGTCGAAGAGCGGGC	0.667000														13			11		0	0	0.000978	0	0
TNXB	7148	broad.mit.edu	37	6	32049308	32049308	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:32049308G>A	uc003nzl.2	-	9	4081	c.3879C>T	c.(3877-3879)gtC>gtT	p.V1293V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1380	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGTACTGGACCATGAATG	0.617000														67			325		0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79396729	79396729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:79396729G>A	uc003hlb.2	+	53	8260	c.7820G>A	c.(7819-7821)gGg>gAg	p.G2607E		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2602	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCAACCTGGGCAACAGGAC	0.602000														35			33		0	0	0.004878	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821359	5821359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:5821359C>T	uc010ndi.3	-	5	1935	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	NLGN4X_uc004crp.3_Missense_Mutation_p.V474M|NLGN4X_uc010ndh.3_Missense_Mutation_p.V454M|NLGN4X_uc004crq.3_Missense_Mutation_p.V454M|NLGN4X_uc004crr.3_Missense_Mutation_p.V454M|NLGN4X_uc010ndj.3_Missense_Mutation_p.V454M	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	454					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G490G(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCGGTGGCCACGGCGGGGGCC	0.597000														21			8		0	0	0.001368	0	0
MET	4233	broad.mit.edu	37	7	116414937	116414937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:116414937C>T	uc003vij.3	+	14	3218	c.3031C>T	c.(3031-3033)Cag>Tag	p.Q1011*	MET_uc010lkh.3_Nonsense_Mutation_p.Q1029*|MET_uc011knj.2_Nonsense_Mutation_p.Q581*	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1011					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.T1010I(14)|p.982_1028del47(9)|p.L982_D1028del(3)|p.D981_D1028del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTTACAGATCAGTTTCCTAA	0.383000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					48			10		0	0	0.000978	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017136	91017136	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:91017136C>T	uc002bpl.1	+	20	2543	c.2442C>T	c.(2440-2442)tcC>tcT	p.S814S		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	814	IQ 3.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATTCAGTCCCTGGCAAGGA	0.512000														17			32		0	0	0.002445	0	0
FGD5	152273	broad.mit.edu	37	3	14862658	14862658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:14862658G>A	uc003bzc.3	+	0	2190	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	FGD5_uc011avk.2_Missense_Mutation_p.E694K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	694					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGATTCTGGAAGTTGACCG	0.517000														16			22		0	0	0.001882	0	0
SLPI	6590	broad.mit.edu	37	20	43882237	43882237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:43882237G>A	uc002xnm.1	-	1	245	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	75	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTGTCAACAGGATCCAGGCAT	0.537000														32			18		0	0	0.001882	0	0
SERINC3	10955	broad.mit.edu	37	20	43142677	43142677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:43142677G>A	uc002xme.3	-	1	178	c.44C>T	c.(43-45)cCa>cTa	p.P15L	SERINC3_uc002xmf.1_Missense_Mutation_p.P15L|SERINC3_uc010ggs.1_Missense_Mutation_p.P8L|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	15						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCAGAGGCATGGAACCTGGAA	0.493000														35			32		0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179579087	179579087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179579087C>T	uc021vsy.1	-	87	22907	c.22682G>A	c.(22681-22683)gGa>gAa	p.G7561E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4222E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8488	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTATTTTCCAGCATTGGC	0.398000														40			28		0	0	0.007291	0	0
ABCB11	8647	broad.mit.edu	37	2	169825918	169825918	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:169825918G>A	uc002ueo.1	-	15	2079	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	ABCB11_uc010zda.1_Silent_p.F93F|ABCB11_uc010zdb.1_Silent_p.F127F	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	651	ABC transporter 1.|Interaction with HAX1 (By similarity).				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACTAGAGTGAAGTAAACAC	0.408000														4			8		0	0	0.003080	0	0
AR	367	broad.mit.edu	37	X	66931342	66931342	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:66931342G>T	uc004dwu.2	+	3	3099	c.1984G>T	c.(1984-1986)Gtg>Ttg	p.V662L	AR_uc022byk.1_Missense_Mutation_p.V662L|AR_uc004dwv.2_Missense_Mutation_p.V130L	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	661	Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GAAGCTGACAGTGTCACACAT	0.522000									Androgen Insensitivity Syndrome					6			7		2.0095e-06	2.63607e-06	0.001984	1	0
CLASRP	11129	broad.mit.edu	37	19	45559751	45559751	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45559751G>T	uc002pak.3	+	5	521	c.423G>T	c.(421-423)ttG>ttT	p.L141F	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.L79F|CLASRP_uc002pam.3_Missense_Mutation_p.L141F|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	141					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TTGATGAGTTGTACGGAGGCC	0.582000														212			55		1.20869e-33	1.59402e-33	0.003610	1	0
CACNA1C	775	broad.mit.edu	37	12	2788691	2788691	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:2788691C>T	uc009zdu.1	+	43	5630	c.5317C>T	c.(5317-5319)Cag>Tag	p.Q1773*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.Q1744*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.Q1744*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.Q1714*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.Q1733*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.Q1766*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.Q1731*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.Q1733*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.Q1773*|CACNA1C_uc001qkj.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkk.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkm.2_Nonsense_Mutation_p.Q1714*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.Q1745*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.Q1753*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.Q1742*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.Q1744*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.Q1722*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.Q1725*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.Q1461*|CACNA1C_uc010sea.1_Nonsense_Mutation_p.Q416*|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Nonsense_Mutation_p.Q43*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1773					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTTCACCACTCAGCGCCCGCT	0.647000														6			17		0	0	0.004990	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455134	187455134	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:187455134C>T	uc003izd.1	-	1	780	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	254					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAATGAAGTTCAGAGGAGCCC	0.507000														22			23		0	0	0.003330	0	0
LOC554223	554223	broad.mit.edu	37	6	29760077	29760077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:29760077G>A	uc003nnt.3	+	0	395	c.293G>A	c.(292-294)tGg>tAg	p.W98*	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_Silent_p.L62L	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	98					antigen processing and presentation|immune response	MHC class I protein complex											ACCCAGACCTGGGCAGGTGAG	0.706000														2			4		0	0	0.000602	0	0
MDGA1	266727	broad.mit.edu	37	6	37620006	37620006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:37620006C>T	uc003onu.1	-	6	2272	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	MDGA1_uc003onw.3_Non-coding_Transcript	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	365	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCACCTTCTCCTGGGGCACT	0.582000														16			76		0	0	0.003610	0	0
DHX40	79665	broad.mit.edu	37	17	57682846	57682846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:57682846C>T	uc002ixn.2	+	16	2158	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	DHX40_uc010woe.2_Missense_Mutation_p.H594Y|DHX40_uc010wof.2_Missense_Mutation_p.H186Y	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	671							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATCATTTTTCATGAGGTATT	0.363000														18			33		0	0	0.004878	0	0
KAL1	3730	broad.mit.edu	37	X	8538559	8538559	+	Missense_Mutation	SNP	C	T	T	rs143406724		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:8538559C>T	uc004csf.3	-	6	1193	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	348	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTCTTTCTCCGCTTCTTCTT	0.512000														14			3		0	0	0.000248	0	0
OR4C13	283092	broad.mit.edu	37	11	49974034	49974034	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:49974034A>C	uc010rhz.2	+	0	92	c.60A>C	c.(58-60)aaA>aaC	p.K20N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGAATCCAAAAATGCAGAAAA	0.368000														23			23		0	0	0.001882	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658504	72658504	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:72658504G>A	uc003txs.1	-	12	1408	c.480C>T	c.(478-480)atC>atT	p.I160I	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		catcgattgcgatagaatatg	0.453000														47			18		0	0	0.006122	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967418	142967418	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:142967418C>T	uc004fca.3	+	0	246	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	72							acid-amino acid ligase activity	p.R71G(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTACGTTTCATGACCAAAA	0.418000														34			30		0	0	0.002836	0	0
KIF1C	10749	broad.mit.edu	37	17	4926845	4926845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:4926845C>T	uc002gan.2	+	22	3068	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	904					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAGGCAGCCCCCAGTGACCGC	0.657000														26			16		0	0	0.004990	0	0
SEL1L3	23231	broad.mit.edu	37	4	25823696	25823696	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:25823696C>T	uc003gru.4	-	6	1364	c.1212G>A	c.(1210-1212)ggG>ggA	p.G404G		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	404						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATACCTGCTCCCTCCAATAA	0.512000														28			7		0	0	0.001984	0	0
C4orf21	55345	broad.mit.edu	37	4	113468529	113468529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:113468529G>A	uc003iau.3	-	23	5721	c.5510C>T	c.(5509-5511)cCc>cTc	p.P1837L	C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.P295L	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGCTGTTTGGGATCCCCAAC	0.358000														29			5		0	0	0.000602	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474384	140474384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140474384G>A	uc003lil.3	+	0	148	c.10G>A	c.(10-12)Gga>Aga	p.G4R	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGAGGCCGGAGAGGGGAA	0.527000														29			25		0	0	0.003330	0	0
GMNN	51053	broad.mit.edu	37	6	24781782	24781782	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:24781782C>T	uc003nem.3	+	3	414	c.207C>T	c.(205-207)gtC>gtT	p.V69V	GMNN_uc021ymn.1_Silent_p.V69V|GMNN_uc003nen.3_Silent_p.V69V|GMNN_uc021ymo.1_Silent_p.V69V	NM_001251989	NP_001238918	O75496	GEMI_HUMAN	Homo sapiens geminin, DNA replication inhibitor (GMNN), transcript variant 2, mRNA.	69					M/G1 transition of mitotic cell cycle|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GGGTTATTGTCCCAGAATCTA	0.368000														4			27		0	0	0.007291	0	0
ZNF91	7644	broad.mit.edu	37	19	23542334	23542334	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23542334A>G	uc002nre.3	-	3	3560	c.3447T>C	c.(3445-3447)ctT>ctC	p.L1149L	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Silent_p.L1117L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1149						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGGTTAGTAAGGATTGAAG	0.443000														29			5		0	0	0.000602	0	0
CHD6	84181	broad.mit.edu	37	20	40033600	40033600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:40033600G>A	uc002xka.1	-	36	7959	c.7781C>T	c.(7780-7782)tCt>tTt	p.S2594F	CHD6_uc002xjz.1_Missense_Mutation_p.S131F	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2594					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGACTGATCAGAAAATGGACC	0.473000														107			88		0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98581822	98581822	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98581822C>T	uc003upp.3	+	59	9350	c.9141C>T	c.(9139-9141)atC>atT	p.I3047I	TRRAP_uc011kis.2_Silent_p.I3018I|TRRAP_uc003upr.3_Silent_p.I2735I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3047	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGAAAAATCGCCCGGAAAC	0.438000														111			18		0	0	0.002299	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22867576	22867576	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:22867576C>T	uc001yuq.2	+	18	2782	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	TUBGCP5_uc001yur.4_Silent_p.F884F	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	884					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATCGCATGTTCCTCTTAAGAG	0.438000														38			46		0	0	0.003610	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661245	50661245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:50661245G>A	uc001csb.2	+	4	789	c.521G>A	c.(520-522)gGg>gAg	p.G174E	ELAVL4_uc001cry.3_Missense_Mutation_p.G177E|ELAVL4_uc001crz.3_Missense_Mutation_p.G174E|ELAVL4_uc001csa.3_Missense_Mutation_p.G191E|ELAVL4_uc001csc.3_Missense_Mutation_p.G174E|ELAVL4_uc009vyu.3_Missense_Mutation_p.G179E|ELAVL4_uc010omz.2_Missense_Mutation_p.G179E	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	174	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GTGTCCAGAGGGGTGGGATTC	0.498000														44			17		0	0	0.001216	0	0
RABEP2	79874	broad.mit.edu	37	16	28916731	28916731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28916731G>A	uc002drq.3	-	11	1643	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.S461F|RABEP2_uc010byn.3_Missense_Mutation_p.S496F	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	532					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CAGGGCCTGGGACAGTCGCAC	0.647000														7			15		0	0	0.004990	0	0
BTBD11	121551	broad.mit.edu	37	12	107713182	107713183	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:107713182_107713183CA>AG	uc001tmk.1	+	0	986_987	c.465_466CA>AG	c.(463-468)gccaag>gcAGag	p.K156E	BTBD11_uc009zut.1_Missense_Mutation_p.K156E|BTBD11_uc001tmj.3_Missense_Mutation_p.K156E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	156						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCTTCGCCAAGTGCACCAA	0.688000														2			4		0	0	0.004672	0	0
ZXDC	79364	broad.mit.edu	37	3	126180810	126180810	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:126180810G>A	uc003eiv.3	-	5	1749	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Silent_p.P565P	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	565					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCAGGACCAGGGGTTCCATCG	0.587000														47			18		0	0	0.007413	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736223	12736223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:12736223G>A	uc004cuz.2	+	15	3784	c.3278G>A	c.(3277-3279)tGg>tAg	p.W1093*	FRMPD4_uc011mij.2_Nonsense_Mutation_p.W1085*	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1093					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGTCAAAGATGGTATGTGGCC	0.493000														83			21		0	0	0.002299	0	0
ELN	2006	broad.mit.edu	37	7	73474513	73474513	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:73474513C>T	uc003tzw.3	+	24	1730	c.1639_splice	c.e24+1	p.R547_splice	ELN_uc003tzn.3_Splice_Site_p.R541_splice|ELN_uc003tzy.3_Splice_Site_p.R517_splice|ELN_uc003tzz.3_Splice_Site_p.R460_splice|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Splice_Site_p.R452_splice|ELN_uc003tzq.3_Splice_Site_p.R405_splice|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Splice_Site_p.R522_splice|ELN_uc003tzt.3_Splice_Site_p.R546_splice|ELN_uc003tzu.3_Splice_Site_p.R527_splice|ELN_uc003tzv.3_Splice_Site_p.R512_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.R531_splice|ELN_uc011kff.2_Splice_Site_p.R541_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	570	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AAGCCCAGCTCCGTGAGTGCC	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							110			21		0	0	0.003330	0	0
WDR19	57728	broad.mit.edu	37	4	39276558	39276558	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:39276558G>A	uc003gtv.3	+	32	3850	c.3696G>A	c.(3694-3696)aaG>aaA	p.K1232K	WDR19_uc011byi.2_Silent_p.K1072K|WDR19_uc003gtw.1_Silent_p.K829K	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1232					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATACAAAAAGAAGATCGAGG	0.443000														26			5		0	0	0.001984	0	0
GRIK4	2900	broad.mit.edu	37	11	120833291	120833291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120833291G>A	uc001pxn.2	+	17	2454	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	GRIK4_uc009zav.1_Missense_Mutation_p.E723K|GRIK4_uc009zaw.1_Missense_Mutation_p.E723K|GRIK4_uc009zax.1_Missense_Mutation_p.E723K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	723					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTCCTCCTGGAATCCACCAT	0.542000														17			15		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9072472	9072472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9072472C>T	uc002mkp.3	-	2	15178	c.14974G>A	c.(14974-14976)Gac>Aac	p.D4992N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4994	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						TTTGATGGGTCCATGGTAAAA	0.473000														19			19		0	0	0.001523	0	0
REV3L	5980	broad.mit.edu	37	6	111689225	111689225	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:111689225A>C	uc003puy.4	-	13	6107	c.5766T>G	c.(5764-5766)atT>atG	p.I1922M	REV3L_uc003pux.4_Missense_Mutation_p.I1844M|REV3L_uc003puz.4_Missense_Mutation_p.I1844M|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1922					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCGTCCACCAATCTCCCTAT	0.388000								DNA polymerases (catalytic subunits)						2			7		0	0	0.001984	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656544	40656544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:40656544C>T	uc002rrx.3	-	0	901	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	SLC8A1_uc002rry.3_Missense_Mutation_p.G293R|SLC8A1_uc002rsb.2_Missense_Mutation_p.G293R|SLC8A1_uc002rrz.3_Missense_Mutation_p.G293R|SLC8A1_uc002rsa.3_Missense_Mutation_p.G293R|SLC8A1_uc002rsd.4_Missense_Mutation_p.G293R|SLC8A1_uc010fan.1_Missense_Mutation_p.G293R|SLC8A1_uc002rsc.1_Missense_Mutation_p.G293R	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.D292D(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCACTTTCCCGTCCATTTCA	0.443000														41			26		0	0	0.006320	0	0
KCNK3	3777	broad.mit.edu	37	2	26951294	26951294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:26951294G>A	uc002rhn.2	+	1	1206	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	348					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTCGCCGGGAGGGGGCGGC	0.692000														10			8		0	0	0.004482	0	0
MARK1	4139	broad.mit.edu	37	1	220771689	220771689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:220771689G>A	uc009xdw.3	+	3	923	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	MARK1_uc001hmn.4_Missense_Mutation_p.R109Q|MARK1_uc010pun.2_Missense_Mutation_p.R109Q|MARK1_uc001hmm.4_Missense_Mutation_p.R109Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	109	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGAGAAGTACGAATAATGAAG	0.229000														35			13		0	0	0.003163	0	0
FRG2B	441581	broad.mit.edu	37	10	135438890	135438890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:135438890C>T	uc010qvg.2	-	3	603	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	184						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TAAACAGCCTCTGACATAGCT	0.577000														139			20		0	0	0.001882	0	0
CTLA4	1493	broad.mit.edu	37	2	204735491	204735491	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:204735491C>T	uc002vak.2	+	1	447	c.292C>T	c.(292-294)Cta>Tta	p.L98L	CTLA4_uc002val.2_Silent_p.L98L|CTLA4_uc010fty.2_Intron|CTLA4_uc010ftz.2_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	98	Ig-like V-type.				B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	GTTGACCTTCCTAGATGATTC	0.547000														64			25		0	0	0.005443	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143708	61143708	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61143708C>T	uc021wfy.1	-	0		c.175G>A			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		TGGTGTGGCCCCGTGGGAAGC	0.652000														77			60		0	0	0.003610	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149191	142149191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142149191G>A	uc010lnw.1	-	1	162	c.80C>T	c.(79-81)cCc>cTc	p.P27L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGGTGTGTGGGACTTTGGGT	0.552000														25			30		0	0	0.004289	0	0
PI4K2A	55361	broad.mit.edu	37	10	99358994	99358994	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:99358994C>T	uc001knx.2	+	2	848	c.489C>T	c.(487-489)acC>acT	p.T163T	PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron			Q9BTU6	P4K2A_HUMAN	Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GGCCTGAGACCAAGAGGAGGC	0.587000														4			13		0	0	0.001368	0	0
TCRA	0	broad.mit.edu	37	14	22690118	22690118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22690118C>T	uc010ajn.1	+	1	106	c.77C>T	c.(76-78)cCt>cTt	p.P26L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_5'UTR					Homo sapiens mRNA for unknown variable region, clone: SEB 70.																		AATCAGAGTCCTCAATCTATG	0.428000														28			12		0	0	0.002450	0	0
HECTD1	25831	broad.mit.edu	37	14	31619269	31619269	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:31619269G>A	uc001wrc.1	-	12	2580	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	HECTD1_uc001wrd.1_Silent_p.I212I	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCATCCAAGATAAATCTGA	0.388000														55			27		0	0	0.005443	0	0
LIPC	3990	broad.mit.edu	37	15	58840751	58840751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:58840751G>A	uc010bga.2	+	7	1639	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	LIPC_uc010bfz.1_Missense_Mutation_p.R344Q|LIPC_uc002afa.2_Missense_Mutation_p.R344Q|LIPC_uc010bgb.1_Missense_Mutation_p.R242Q|LIPC_uc010ugy.2_Missense_Mutation_p.R283Q	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	344					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTCGTAACGCGAGCCCAGTCC	0.632000														6			14		0	0	0.004007	0	0
IFIH1	64135	broad.mit.edu	37	2	163144699	163144699	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163144699T>C	uc002uce.3	-	4	1263	c.1041A>G	c.(1039-1041)ttA>ttG	p.L347L		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	347	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCTTCTTGTCTAAGTGATCCT	0.398000														23			7		0	0	0.001984	0	0
POU2F3	25833	broad.mit.edu	37	11	120170364	120170364	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120170364T>C	uc021qrk.1	+	4	330	c.296T>C	c.(295-297)cTt>cCt	p.L99P	POU2F3_uc001pxc.3_Missense_Mutation_p.L97P|POU2F3_uc010rzk.2_Silent_p.A35A|POU2F3_uc010rzl.2_Missense_Mutation_p.L27P	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	97					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTCCAGCAGCTTGTGCTGGTT	0.562000											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			10		0	0	0.000673	0	0
EDA2R	60401	broad.mit.edu	37	X	65824340	65824340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:65824340C>T	uc004dwt.2	-	2	285	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	EDA2R_uc004dwr.3_Missense_Mutation_p.R92Q|EDA2R_uc004dws.3_Missense_Mutation_p.R92Q|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Intron|EDA2R_uc004dwq.3_Missense_Mutation_p.R92Q|EDA2R_uc022byh.1_Missense_Mutation_p.R92Q	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	92					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.R92*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCGTGTCTTTCGGTAGAACCT	0.512000														35			12		0	0	0.001855	0	0
MKL1	57591	broad.mit.edu	37	22	40813460	40813460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40813460G>A	uc003ayv.1	-	9	2309	c.2102C>T	c.(2101-2103)tCt>tTt	p.S701F	MKL1_uc010gyf.1_Missense_Mutation_p.S651F|MKL1_uc003ayw.1_Missense_Mutation_p.S701F|MKL1_uc010gye.1_Missense_Mutation_p.S701F	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	701	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CATCTGGGCAGAGGGGGCAGG	0.652000			T	RBM15	acute megakaryocytic leukemia									20			4		0	0	0.000248	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963266	73963266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73963266C>T	uc004eby.3	-	2	1743	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	376					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTTTATCTTCCTCCCCCCAG	0.473000														53			23		0	0	0.002780	0	0
PTPRN	5798	broad.mit.edu	37	2	220172277	220172277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:220172277C>T	uc002vkz.3	-	2	410	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	PTPRN_uc010zlc.2_5'UTR|PTPRN_uc002vla.3_Missense_Mutation_p.G57S	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	57					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCAAACAAGCCATCTAAGGGC	0.552000														36			16		0	0	0.003163	0	0
SYTL5	94122	broad.mit.edu	37	X	37984626	37984626	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37984626G>A	uc004ddx.3	+	15	2339	c.1983G>A	c.(1981-1983)tgG>tgA	p.W661*	SYTL5_uc004ddu.3_Nonsense_Mutation_p.W639*|SYTL5_uc004ddv.3_Nonsense_Mutation_p.W639*	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	639	C2 2.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACCCTCAGTGGAATCATACAT	0.418000														27			4		0	0	0.000248	0	0
DNAH8	1769	broad.mit.edu	37	6	38890917	38890917	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:38890917C>T	uc021yzh.1	+	71	10855	c.10746C>T	c.(10744-10746)atC>atT	p.I3582I	DNAH8_uc003ooe.2_Silent_p.I3365I|LOC100131047_uc003oof.2_Non-coding_Transcript	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGAAAAAATCCGGTGGACCC	0.448000														6			20		0	0	0.002299	0	0
SYNE1	23345	broad.mit.edu	37	6	152576061	152576061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:152576061C>T	uc021zhb.1	-	101	19647	c.19424G>A	c.(19423-19425)cGa>cAa	p.R6475Q	SYNE1_uc003qos.4_Missense_Mutation_p.R999Q|SYNE1_uc003qot.4_Missense_Mutation_p.R6404Q|SYNE1_uc003qou.4_Missense_Mutation_p.R6475Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6475					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGACATCGTTGATTCAC	0.363000										HNSCC(10;0.0054)				4			21		0	0	0.002299	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874267	31874267	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:31874267A>G	uc011ada.2	-	0	142	c.142T>C	c.(142-144)Tct>Cct	p.S48P		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	48						intermediate filament	protein binding	p.G47S(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCGAAGCCAGAGCCGTATCCG	0.547000														56			46		0	0	0.003610	0	0
ITPR3	3710	broad.mit.edu	37	6	33656171	33656171	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33656171C>T	uc021ywr.1	+	47	6755	c.6531C>T	c.(6529-6531)ttC>ttT	p.F2177F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2177					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGTCCTCCTTCCTGCACAACG	0.607000														6			29		0	0	0.007291	0	0
TRIM21	6737	broad.mit.edu	37	11	4406950	4406950	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4406950G>A	uc001lyy.1	-	6	1106	c.993C>T	c.(991-993)gtC>gtT	p.V331V		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	331	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGGCACCCAGGACCATAGGAT	0.512000														5			5		0	0	0.001168	0	0
TEP1	7011	broad.mit.edu	37	14	20845516	20845516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20845516G>A	uc001vxe.3	-	40	6051	c.6011C>T	c.(6010-6012)tCc>tTc	p.S2004F	TEP1_uc010ahk.3_Missense_Mutation_p.S1347F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1896F|TEP1_uc010tlh.1_Missense_Mutation_p.S342F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2004					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGCCAGAGGGACTGAAGGGA	0.597000														27			17		0	0	0.004007	0	0
OR1A1	8383	broad.mit.edu	37	17	3119596	3119596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:3119596C>T	uc010vrc.2	+	0	682	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCCAGGTTCCTTCCACCAA	0.493000														21			59		0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41530113	41530113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:41530113C>T	uc003xok.3	-	37	4939	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.E1619K|ANK1_uc003xoj.3_Missense_Mutation_p.E1619K|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Missense_Mutation_p.E1660K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1619	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCACAAGTTCCAGAGAGCCC	0.567000														47			79		0	0	0.003610	0	0
TNK2	10188	broad.mit.edu	37	3	195605370	195605370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:195605370G>A	uc003fvu.1	-	7	1651	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	TNK2_uc003fvs.1_Missense_Mutation_p.H402Y|TNK2_uc003fvt.1_Missense_Mutation_p.H433Y|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Missense_Mutation_p.H200Y	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	370	Protein kinase.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTGGCTTGTGAGCCCAGCAC	0.627000														34			52		0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124979739	124979740	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124979739_124979740GG>AA	uc021rga.1	-	0	175_176	c.58_59CC>TT	c.(58-60)ccg>TTg	p.P20L	NCOR2_uc021rgb.1_Missense_Mutation_p.P20L|NCOR2_uc010tbb.2_Missense_Mutation_p.P20L|NCOR2_uc010tbc.2_Missense_Mutation_p.P20L|NCOR2_uc021rgc.1_Missense_Mutation_p.P20L|NCOR2_uc010tba.2_Missense_Mutation_p.P20L|NCOR2_uc001ugj.1_Missense_Mutation_p.P20L|NCOR2_uc001ugk.1_Missense_Mutation_p.P20L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	20					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGTGGGGCGGGTAGCGGGGC	0.653000														18			12		0	0	0.004672	0	0
KCNK13	56659	broad.mit.edu	37	14	90650488	90650488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:90650488G>A	uc001xye.1	+	1	810	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAGTAGGAGGAAAAATCTTT	0.483000														66			32		0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9088812	9088812	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9088812G>A	uc002mkp.3	-	0	3207	c.3003C>T	c.(3001-3003)ttC>ttT	p.F1001F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1001	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						CTGGAGAAGTGAATTTAGAGA	0.478000														107			30		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179649068	179649068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179649068G>A	uc021vsy.1	-	15	2729	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	TTN_uc021vsz.1_Missense_Mutation_p.A789V|TTN_uc021vta.1_Missense_Mutation_p.A789V|TTN_uc021vtb.1_Missense_Mutation_p.A789V|TTN_uc002unb.2_Missense_Mutation_p.A835V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	835							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F835L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCACTACCGGCTATTGATGC	0.448000														15			23		0	0	0.002299	0	0
CSMD1	64478	broad.mit.edu	37	8	3432491	3432491	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:3432491G>A	uc022aqr.1	-	9	1710	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	441	CUB 3.					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)		TGGTGGTGATGACCCACACAC	0.527000														78			13		0	0	0.003163	0	0
DGKZ	8525	broad.mit.edu	37	11	46398734	46398734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:46398734C>T	uc001ncn.1	+	25	3003	c.2878C>T	c.(2878-2880)Ccc>Tcc	p.P960S	DGKZ_uc001nch.2_Missense_Mutation_p.P788S|DGKZ_uc010rgq.2_Missense_Mutation_p.P754S|DGKZ_uc010rgr.2_Missense_Mutation_p.P776S|DGKZ_uc001ncj.2_Missense_Mutation_p.P738S|DGKZ_uc001nck.2_Missense_Mutation_p.P550S|DGKZ_uc001ncm.2_Missense_Mutation_p.P771S|DGKZ_uc001ncl.2_Missense_Mutation_p.P772S|DGKZ_uc009yky.1_Missense_Mutation_p.P772S|DGKZ_uc010rgs.1_Missense_Mutation_p.P749S	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	960					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTCCCCTCTCCCCACCTCACC	0.627000														10			7		0	0	0.004482	0	0
SCN11A	11280	broad.mit.edu	37	3	38945589	38945589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38945589C>T	uc021wvy.1	-	11	1808	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	537					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)	TGTGATTTTTCTTGTTCTGGA	0.527000														18			3		0	0	0.004672	0	0
MAST1	22983	broad.mit.edu	37	19	12962929	12962929	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12962929G>A	uc002mvm.3	+	9	1005	c.877_splice	c.e9-1	p.E293_splice	MAST1_uc021upp.1_Splice_Site_p.E117_splice	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	293					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCTGCCTCAGGAATTCAACCC	0.652000														72			11		0	0	0.000673	0	0
ZNF135	7694	broad.mit.edu	37	19	58578433	58578433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:58578433G>A	uc002qrg.3	+	3	656	c.653G>A	c.(652-654)gGa>gAa	p.G218E	ZNF135_uc002qre.3_Missense_Mutation_p.G194E|ZNF135_uc002qrf.3_Missense_Mutation_p.G152E|ZNF135_uc010yhq.2_Missense_Mutation_p.G206E|ZNF135_uc010yhr.2_Missense_Mutation_p.G15E|ZNF135_uc002qrd.2_Missense_Mutation_p.G206E|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	206					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAACACGTGGAAAAAGGGAG	0.458000														34			8		0	0	0.003080	0	0
CDH18	1016	broad.mit.edu	37	5	19483537	19483537	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:19483537G>A	uc003jgd.3	-	11	2289	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	CDH18_uc011cnm.2_Missense_Mutation_p.P549L|CDH18_uc003jgc.3_Silent_p.T585T|CDH18_uc021xwu.1_Missense_Mutation_p.P550L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	585	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAACCCTGATGGTGAGGGTGC	0.537000														19			18		0	0	0.004990	0	0
NLRP2	55655	broad.mit.edu	37	19	55489138	55489138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55489138G>A	uc021vbq.1	+	3	455	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	NLRP2_uc010yfp.2_Missense_Mutation_p.R92Q|NLRP2_uc002qij.3_Missense_Mutation_p.R115Q|NLRP2_uc010esp.3_Missense_Mutation_p.R115Q|NLRP2_uc010esn.3_Intron|NLRP2_uc010eso.3_Missense_Mutation_p.R115Q	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	115					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGGAAAGAACGACCACCTCTA	0.557000														30			37		0	0	0.003214	0	0
OR8D1	283159	broad.mit.edu	37	11	124180455	124180455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124180455C>T	uc010sag.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70N(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TAGCAGAAATCGACGAAGGAC	0.468000														9			7		0	0	0.001984	0	0
GABRG1	2565	broad.mit.edu	37	4	46043126	46043126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:46043126G>A	uc003gxb.3	-	8	1429	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	426					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTCCCTCCAAGATCCTGTTCT	0.418000														17			6		0	0	0.001168	0	0
DCPS	28960	broad.mit.edu	37	11	126176518	126176518	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:126176518G>A	uc001qdp.3	+	1	584	c.255G>A	c.(253-255)gaG>gaA	p.E85E		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	Homo sapiens decapping enzyme, scavenger (DCPS), mRNA.	85					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		TGATCCTGGAGAAGACGCCAT	0.562000														12			9		0	0	0.004482	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701746	56701746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56701746C>T	uc010ygh.2	-	3	938	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	313					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTGGCTTCTCCTTGAGGCTC	0.557000														78			58		0	0	0.003610	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342280	60342280	+	RNA	SNP	C	T	T	rs80012429		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:60342280C>T	uc010woz.2	-	13		c.1849G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TTAATACATTCTCATAAGTTT	0.488000														122			9		0	0	0.002450	0	0
GDF2	2658	broad.mit.edu	37	10	48413755	48413755	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:48413755C>T	uc001jfa.1	-	1	1273	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	371					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TAGCGTGTTTCGTCGGCGTCA	0.582000														14			15		0	0	0.002450	0	0
ARSF	416	broad.mit.edu	37	X	3002412	3002412	+	Missense_Mutation	SNP	C	T	T	rs146302062	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3002412C>T	uc022brz.1	+	5	671	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	ARSF_uc004cre.2_Missense_Mutation_p.R179C|ARSF_uc004crf.2_Missense_Mutation_p.R179C	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	179						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACCCCTCTCGTAACACGGA	0.537000														56			14		0	0	0.001855	0	0
TRIM10	10107	broad.mit.edu	37	6	30124729	30124729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30124729C>T	uc003npo.3	-	4	958	c.882G>A	c.(880-882)atG>atA	p.M294I	TRIM10_uc003npn.2_Missense_Mutation_p.M294I	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	294	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						GAAACATCTTCATCTCCCTCT	0.607000														37			22		0	0	0.002299	0	0
AMY1B	277	broad.mit.edu	37	1	104297230	104297230	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:104297230T>G	uc001duy.3	+	6	1202	c.988T>G	c.(988-990)Ttc>Gtc	p.F330V	AMY1B_uc001duz.3_Missense_Mutation_p.F330V	NM_001008221	NP_004029	P04745	AMY1_HUMAN	Homo sapiens amylase, alpha 1A (salivary) (AMY1A), transcript variant 2, mRNA.	330					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TATACTTACCTTCTGGGATGC	0.388000														150			50		0	0	0.003610	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:75312457G>A	uc021xpc.1	+	1	478	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	90					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000														70			21		0	0	0.006320	0	0
TP53BP2	7159	broad.mit.edu	37	1	223991102	223991102	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:223991102G>A	uc001hod.3	-	7	1126	c.315C>T	c.(313-315)ctC>ctT	p.L105L	TP53BP2_uc010pvb.2_Silent_p.L234L|TP53BP2_uc010puz.2_5'Flank|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	228					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGCCAGGACGAGCTCCCTCT	0.448000														29			14		0	0	0.002450	0	0
CDH4	1002	broad.mit.edu	37	20	60509225	60509225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:60509225C>T	uc002ybn.2	+	14	2579	c.2491C>T	c.(2491-2493)Ccg>Tcg	p.P831S	CDH4_uc002ybr.2_Missense_Mutation_p.P794S|CDH4_uc002ybp.2_Missense_Mutation_p.P757S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	831					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCCAGTACCCGATCAGGCC	0.677000														54			36		0	0	0.004289	0	0
ZNF468	90333	broad.mit.edu	37	19	53345199	53345199	+	Silent	SNP	G	A	A	rs144646148	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53345199G>A	uc002qaf.3	-	3	499	c.348C>T	c.(346-348)atC>atT	p.I116I	ZNF468_uc002qae.3_Silent_p.I63I|ZNF468_uc021uzb.1_Silent_p.I63I	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCAACTCTTTGATTTCTGTCA	0.418000														103			22		0	0	0.003330	0	0
F8	2157	broad.mit.edu	37	X	154158173	154158173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154158173C>T	uc004fmt.3	-	13	4063	c.3892G>A	c.(3892-3894)Ggc>Agc	p.G1298S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1298	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCCCAAGCCTTCCAAGTTT	0.368000														37			23		0	0	0.001882	0	0
ZNF525	170958	broad.mit.edu	37	19	53884868	53884868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53884868C>T	uc010eqn.3	+	3	1121	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TGCATGCCATCGTAGCATTCA	0.393000														10			11		0	0	0.000978	0	0
HTR2C	3358	broad.mit.edu	37	X	114141608	114141608	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:114141608T>A	uc004epu.1	+	5	1735	c.1007T>A	c.(1006-1008)cTt>cAt	p.L336H	HTR2C_uc010nqc.1_Missense_Mutation_p.L336H|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	336					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.L336F(1)|p.L336V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTGTCTGTTCTTTGTGAGAAG	0.373000														42			35		0	0	0.004878	0	0
NOBOX	135935	broad.mit.edu	37	7	144099034	144099034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:144099034C>T	uc022aoj.1	-	2	220	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	74					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCTAAGGGATCATGTTGGGGC	0.507000														64			10		0	0	0.000673	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033166	20033166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:20033166C>T	uc002wrs.3	-	1	336	c.304G>A	c.(304-306)Gga>Aga	p.G102R	C20orf26_uc010gcw.2_5'UTR|C20orf26_uc010zse.2_5'UTR|C20orf26_uc002wru.3_5'UTR|CRNKL1_uc002wrt.1_Missense_Mutation_p.G90R	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.G102E(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCACCGTTTCCATGGTGACCA	0.617000														36			46		0	0	0.003610	0	0
HOOK2	29911	broad.mit.edu	37	19	12878642	12878642	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12878642A>G	uc002muy.2	-	12	1462	c.1291T>C	c.(1291-1293)Ttg>Ctg	p.L431L	HOOK2_uc002muz.2_Silent_p.L431L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	431	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCCTGGGTCAACCCCCGCGGC	0.632000														13			3		0	0	0.004672	0	0
FAM131B	9715	broad.mit.edu	37	7	143054461	143054461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143054461C>T	uc010lpa.3	-	5	666	c.522G>A	c.(520-522)atG>atA	p.M174I	FAM131B_uc010loz.3_Missense_Mutation_p.M114I|FAM131B_uc003wct.3_Missense_Mutation_p.M146I|FAM131B_uc003wcu.4_Missense_Mutation_p.M146I	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	146										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTCACCATCCATGGAAGACC	0.517000														32			86		0	0	0.003610	0	0
EBF2	64641	broad.mit.edu	37	8	25747300	25747300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:25747300C>T	uc003xes.2	-	7	984	c.719G>A	c.(718-720)gGa>gAa	p.G240E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_5'Flank	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	240					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGCTCTCCGTCCATGCTTGGA	0.463000														35			8		0	0	0.003080	0	0
TKTL1	8277	broad.mit.edu	37	X	153556243	153556243	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153556243C>T	uc004fkg.3	+	11	1743	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	TKTL1_uc011mzl.2_Silent_p.I513I|TKTL1_uc011mzm.2_Silent_p.I315I|TKTL1_uc004fkh.3_Silent_p.I463I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	519				I -> N (in Ref. 6; AAA21557).	glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGCCACCATCGTCTCCAGTG	0.478000														103			63		0	0	0.003610	0	0
NRG2	9542	broad.mit.edu	37	5	139231229	139231229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:139231229C>T	uc003lev.2	-	9	1986	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	NRG2_uc003lew.2_Missense_Mutation_p.D580N|NRG2_uc003lex.2_Missense_Mutation_p.D578N|NRG2_uc003ley.2_Missense_Mutation_p.D572N|NRG2_uc021yed.1_Missense_Mutation_p.D512N	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	578					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACGGAATCGTGATAGGGT	0.657000														32			42		0	0	0.003610	0	0
OR14C36	127066	broad.mit.edu	37	1	248512570	248512570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:248512570C>T	uc010pzl.2	+	0	494	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCCAGCTGCCCTTCTGTCGG	0.502000														24			22		0	0	0.002299	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552100	27552100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27552100G>A	uc002rju.1	-	13	2357	c.1960C>T	c.(1960-1962)Ctt>Ttt	p.L654F	GTF3C2_uc010eyy.1_Missense_Mutation_p.L98F|GTF3C2_uc002rjv.1_Missense_Mutation_p.L643F|GTF3C2_uc002rjw.1_Missense_Mutation_p.L643F	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	643						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACGTCGAAGGTCCCAGAAT	0.493000														195			123		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168096396	168096396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:168096396C>T	uc002udx.3	+	5	979	c.890C>T	c.(889-891)tCa>tTa	p.S297L	XIRP2_uc010fpn.3_Missense_Mutation_p.S330L|XIRP2_uc010fpo.3_Missense_Mutation_p.S297L|XIRP2_uc002udy.3_Missense_Mutation_p.S122L|XIRP2_uc010fpq.3_Missense_Mutation_p.S75L|XIRP2_uc010fpr.3_Missense_Mutation_p.S75L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	122					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						GTTGGCACTTCAAGAAGCAGC	0.378000														34			22		0	0	0.002780	0	0
AKAP6	9472	broad.mit.edu	37	14	33293351	33293351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:33293351C>T	uc001wrq.3	+	12	6502	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2111					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTTTTATTCGTACTTATCT	0.463000														41			17		0	0	0.004990	0	0
IL18	3606	broad.mit.edu	37	11	112014327	112014327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:112014327C>T	uc001pnb.2	-	5	794	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	IL18_uc001pna.2_Missense_Mutation_p.E166K|IL18_uc009yym.2_Missense_Mutation_p.E188K	NM_001562	NP_001553	Q14116	IL18_HUMAN	Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.	192					T-helper 1 type immune response|angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of NK T cell proliferation|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|regulation of cell adhesion|sleep|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AGCTAGTCTTCGTTTTGAACA	0.443000														9			4		0	0	0.000602	0	0
ADARB2	105	broad.mit.edu	37	10	1230823	1230823	+	Missense_Mutation	SNP	C	T	T	rs143420247		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:1230823C>T	uc009xhq.3	-	8	2347	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	ADARB2_uc001igj.2_Missense_Mutation_p.R58Q|ADARB2_uc001igl.4_Missense_Mutation_p.R36Q|ADARB2_uc001igm.4_Missense_Mutation_p.R183Q	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	674	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGCGCCCACCGTGCAGACAG	0.662000														15			5		0	0	0.003080	0	0
METTL5	29081	broad.mit.edu	37	2	170677747	170677747	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:170677747C>T	uc002ufn.3	-	2	507	c.261G>A	c.(259-261)ttG>ttA	p.L87L	METTL5_uc002ufo.3_Silent_p.L87L|METTL5_uc002ufp.3_Silent_p.L87L	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	Homo sapiens methyltransferase like 5 (METTL5), mRNA.	87							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TAAATATTTCCAATGCGTCTT	0.338000														41			15		0	0	0.004990	0	0
HERC2	8924	broad.mit.edu	37	15	28525345	28525345	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:28525345G>A	uc001zbj.3	-	4	517	c.411C>T	c.(409-411)gcC>gcT	p.A137A	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	137					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGAGTCGCAGGGCTGAGAGGG	0.493000														27			57		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179575440	179575440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179575440C>T	uc021vsy.1	-	94	24877	c.24652G>A	c.(24652-24654)Gga>Aga	p.G8218R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4879R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9145	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAATCTCCTTTGTCTACT	0.443000														51			31		0	0	0.002836	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32132466	32132466	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:32132466G>A	uc001ivz.1	-	6	1489	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	ARHGAP12_uc001ivy.1_Silent_p.L358L|ARHGAP12_uc009xls.2_Silent_p.L358L|ARHGAP12_uc001iwb.1_Silent_p.L405L|ARHGAP12_uc001iwc.1_Silent_p.L405L|ARHGAP12_uc009xlq.1_Silent_p.L358L|ARHGAP12_uc009xlr.1_Silent_p.L405L	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	407					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S406N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CGCCTGTCCAGGCTCCTACTT	0.358000														9			18		0	0	0.004990	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112200	64112200	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64112200C>T	uc001nzy.3	+	13	2236	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	CCDC88B_uc009ypo.2_Silent_p.A726A|CCDC88B_uc001nzz.1_Silent_p.A378A	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	729					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCAGGAGGCCCTCAGGGAGG	0.622000														24			13		0	0	0.004007	0	0
RP1	6101	broad.mit.edu	37	8	55541965	55541965	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:55541965C>T	uc003xsd.1	+	3	5671	c.5523C>T	c.(5521-5523)acC>acT	p.T1841T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1841					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAATGAAACCTGTGCCAAGG	0.413000														7			20		0	0	0.001216	0	0
FSTL5	56884	broad.mit.edu	37	4	162307361	162307361	+	Silent	SNP	C	T	T	rs35820116	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:162307361C>T	uc003iqh.3	-	15	2518	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	FSTL5_uc003iqi.3_Silent_p.T693T|FSTL5_uc010iqv.3_Silent_p.T684T	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	694						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGGAGTGCCCGTCACATCAC	0.478000														31			13		0	0	0.001368	0	0
PAK7	57144	broad.mit.edu	37	20	9546751	9546751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:9546751G>A	uc002wnl.2	-	5	1816	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	PAK7_uc002wnk.2_Missense_Mutation_p.P424L|PAK7_uc002wnj.2_Missense_Mutation_p.P424L|PAK7_uc010gby.1_Missense_Mutation_p.P424L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	424	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.Q423K(1)|p.Q423E(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CACCCTGGAGGGCTGCTGGTC	0.617000														46			38		0	0	0.004289	0	0
ROR2	4920	broad.mit.edu	37	9	94486623	94486623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:94486623G>A	uc004arj.2	-	8	2352	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	ROR2_uc004ari.1_Missense_Mutation_p.P578L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	718	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACCCAGGCGGGACAGTCATC	0.647000														13			33		0	0	0.002445	0	0
HCAR1	27198	broad.mit.edu	37	12	123214855	123214855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:123214855C>T	uc001ucz.3	-	0	275	c.32G>A	c.(31-33)gGg>gAg	p.G11E	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	11					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GATGGTGTCCCCCTCGATGCG	0.617000														5			14		0	0	0.004007	0	0
GTF3C1	2975	broad.mit.edu	37	16	27487825	27487825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:27487825G>A	uc002dov.2	-	28	4340	c.4300C>T	c.(4300-4302)Cag>Tag	p.Q1434*	GTF3C1_uc002dou.3_Nonsense_Mutation_p.Q1434*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1434						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCGTGCTCTGGATCAGGTTC	0.607000														28			20		0	0	0.001523	0	0
FAM55A	120400	broad.mit.edu	37	11	114393615	114393615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:114393615G>A	uc001ppa.3	-	4	1085	c.668C>T	c.(667-669)cCc>cTc	p.P223L	FAM55A_uc010rxd.2_Missense_Mutation_p.P72L	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	365						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		TACAACTTTGGGGAAGTAGTA	0.368000														14			5		0	0	0.000602	0	0
STAB1	23166	broad.mit.edu	37	3	52529498	52529498	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52529498C>T	uc003dej.3	+	0	143	c.69C>T	c.(67-69)gtC>gtT	p.V23V	STAB1_uc003dei.1_Silent_p.V23V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	23					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCTTCGTCAGGGGGCAGG	0.706000														14			5		0	0	0.000602	0	0
PRLR	5618	broad.mit.edu	37	5	35084645	35084645	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:35084645G>A	uc003jjm.3	-	4	859	c.300C>T	c.(298-300)atC>atT	p.I100I	PRLR_uc003jjk.1_Silent_p.I29I|PRLR_uc003jjg.2_Silent_p.I100I|PRLR_uc003jjh.2_Silent_p.I100I|PRLR_uc003jji.2_Silent_p.I29I|PRLR_uc003jjj.2_Silent_p.I100I|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Silent_p.I100I|PRLR_uc010iuw.1_Silent_p.I29I	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	100	Fibronectin type-III 1.		I -> V (in dbSNP:rs2228482).		T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGACCATCATGATGTATGTCC	0.493000														85			42		0	0	0.002522	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784165	140784165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140784165G>A	uc003lkh.2	+	0	1646	c.1646G>A	c.(1645-1647)aGa>aAa	p.R549K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.R549K	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCATTGAGACTGTTTGTT	0.517000														48			76		0	0	0.003610	0	0
NLRP2	55655	broad.mit.edu	37	19	55494259	55494259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55494259C>T	uc021vbq.1	+	5	1304	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L	NLRP2_uc010yfp.2_Missense_Mutation_p.P375L|NLRP2_uc002qij.3_Missense_Mutation_p.P398L|NLRP2_uc010esp.3_Missense_Mutation_p.P376L|NLRP2_uc010esn.3_Missense_Mutation_p.P374L|NLRP2_uc010eso.3_Missense_Mutation_p.P395L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	398	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCTCGGCCCCCGCGGTGTGC	0.637000														50			9		0	0	0.000978	0	0
MARCO	8685	broad.mit.edu	37	2	119748178	119748178	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:119748178G>A	uc002tln.1	+	12	1209	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q	MARCO_uc010yyf.1_Silent_p.Q281Q	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	359	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCAAGGACAGCAAGGAAGAA	0.463000														27			16		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179587111	179587111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179587111G>A	uc021vsy.1	-	73	18896	c.18671C>T	c.(18670-18672)tCa>tTa	p.S6224L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2885L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7151	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTACAAATGAAGTCTGTAG	0.418000														11			8		0	0	0.003080	0	0
LRFN5	145581	broad.mit.edu	37	14	42356690	42356690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:42356690C>T	uc001wvm.3	+	2	2060	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	LRFN5_uc010ana.3_Missense_Mutation_p.L288F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	288	Ig-like.					integral to membrane		p.L288V(2)|p.P287H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTCCTCTCATTACTCG	0.493000										HNSCC(30;0.082)				50			59		0	0	0.003610	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163581	32163581	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:32163581C>T	uc002ecx.3	-	1		c.190G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		AGGCGACCATCGATGCCTCCA	0.587000														19			5		0	0	0.001168	0	0
RXRB	6257	broad.mit.edu	37	6	33166144	33166144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33166144G>A	uc003odb.3	-	2	760	c.581C>T	c.(580-582)cCt>cTt	p.P194L	RXRB_uc003odc.3_Missense_Mutation_p.P194L|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_Missense_Mutation_p.P58L|RXRB_uc011dqt.1_Missense_Mutation_p.P194L|RXRB_uc011dqu.1_Missense_Mutation_p.P98L|JA611279_uc021ywi.1_5'Flank|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	194	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.P194S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCCACCTGGAGGGGGTGGACA	0.612000														28			118		0	0	0.003610	0	0
ACAD10	80724	broad.mit.edu	37	12	112174755	112174755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:112174755C>T	uc009zvx.3	+	12	1954	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	ACAD10_uc001tsp.3_Missense_Mutation_p.S554F|ACAD10_uc001tsq.3_Missense_Mutation_p.S554F|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	554							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATGGCTTTTTCCTTTTTCCGT	0.527000														8			50		0	0	0.003610	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532663	80532663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:80532663C>T	uc010nmm.3	+	2	786	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	SH3BGRL_uc004eef.3_Missense_Mutation_p.R76C|SH3BGRL_uc011mqs.2_Non-coding_Transcript|SH3BGRL_uc010nml.3_Non-coding_Transcript|SH3BGRL_uc010nmn.3_Missense_Mutation_p.R113C			O75368	SH3L1_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like (SH3BGRL), mRNA.	76				Q -> R (in Ref. 2 and 3).		cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				AAGCCAGTATCGCGGGGTAAG	0.403000														9			3		0	0	0.004672	0	0
HCN1	348980	broad.mit.edu	37	5	45645412	45645412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:45645412C>T	uc003jok.3	-	1	749	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	242						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.K241N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAATCCATTCCTTTTTCTACA	0.373000														10			11		0	0	0.000978	0	0
C6	729	broad.mit.edu	37	5	41159246	41159246	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41159246C>T	uc003jmk.2	-	11	2004	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G	C6_uc003jml.1_Silent_p.G598G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	598	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGCGTTTCCCTCCTCGTT	0.498000														32			46		0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291746	141291746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:141291746G>A	uc022cfj.1	-	0	28	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	MAGEC2_uc004fbu.2_Missense_Mutation_p.R10C	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	10						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACGTTGCGGAATGGAACG	0.542000										HNSCC(46;0.14)				100			34		0	0	0.003271	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000553	73000553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:73000553C>T	uc002lly.3	+	1	3619	c.3056C>T	c.(3055-3057)cCc>cTc	p.P1019L	TSHZ1_uc021uln.1_Missense_Mutation_p.P1019L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	1064						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1019P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCAAGTCTCCCGAGGACCAC	0.522000														23			25		0	0	0.005443	0	0
ZNF229	7772	broad.mit.edu	37	19	44934632	44934632	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44934632G>A	uc002oze.1	-	5	758	c.324C>T	c.(322-324)atC>atT	p.I108I	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.I102I	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I108M(2)		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)				CCTCTTCCCAGATTTTGCATG	0.428000														33			11		0	0	0.000978	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127829	117127829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:117127829G>A	uc003pxj.1	-	2	1061	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.P347S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	347					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTGTCACTGGGAAGCAAGTGC	0.383000														11			17		0	0	0.006122	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352301	38352301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:38352301C>T	uc003jlc.2	+	4	759	c.413C>T	c.(412-414)tCc>tTc	p.S138F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S138F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	138						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CACCTAGATTCCTGCCTGCCT	0.562000														68			23		0	0	0.004656	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626716	43626716	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:43626716G>A	uc011lrb.2	-	3	2000	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	657						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TCTCTAGCTGGAACTTCACCT	0.557000														25			89		0	0	0.003610	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036049	57036049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:57036049C>T	uc010zzp.1	-	4	1660	c.1336G>A	c.(1336-1338)Ggc>Agc	p.G446S	APCDD1L_uc002xze.1_Missense_Mutation_p.G435S	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	435						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGACTTGAGCCATCGGTGGGC	0.617000														110			106		0	0	0.003610	0	0
FAAH	2166	broad.mit.edu	37	1	46871062	46871062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:46871062G>A	uc001cpu.2	+	3	545	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	FAAH_uc001cpv.2_5'Flank	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	155					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTCCACGCTGGGCTTGAGCCT	0.637000														38			40		0	0	0.002222	0	0
AGFG2	3268	broad.mit.edu	37	7	100153312	100153312	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100153312C>T	uc003uvf.3	+	5	967	c.831C>T	c.(829-831)ctC>ctT	p.L277L	AGFG2_uc003uvg.1_3'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	277					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGAAGCCTCCCTCCAGCTG	0.537000														51			96		0	0	0.003610	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119212430	119212430	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:119212430A>C	uc010rzg.1	-	9	1374	c.1214T>G	c.(1213-1215)cTg>cGg	p.L405R	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	523	CUB 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGGCACAAGCAGCCCACACAG	0.657000														22			13		0	0	0.001855	0	0
MYH11	4629	broad.mit.edu	37	16	15872688	15872688	+	Missense_Mutation	SNP	G	A	A	rs150759461	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:15872688G>A	uc002ddx.3	-	7	867	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	MYH11_uc002ddv.3_Missense_Mutation_p.R254C|MYH11_uc002ddw.3_Missense_Mutation_p.R247C|MYH11_uc002ddy.3_Missense_Mutation_p.R247C|MYH11_uc010bvg.3_Missense_Mutation_p.R79C|MYH11_uc002dea.1_5'UTR	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	247	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T253T(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTGATGCGGATGAATTTG	0.552000			T	CBFB	AML									27			26		0	0	0.001786	0	0
FSIP2	401024	broad.mit.edu	37	2	186689207	186689207	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:186689207G>A	uc002upl.3	+	20	20740	c.20740_splice	c.e20+1	p.E6914_splice	FSIP2_uc002upm.3_Splice_Site	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATTAGAAGGTTGGACTCC	0.289000														6			5		0	0	0.000602	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117462	117462	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000205.1:117462C>T	uc002kgk.4	+	0		c.840C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGGAAAATTTCAAGGCCCTGA	0.562000														32			7		0	0	0.004482	0	0
TNRC6B	23112	broad.mit.edu	37	22	40719215	40719216	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40719215_40719216CC>TT	uc011aor.2	+	22	5683_5684	c.5472_5473CC>TT	c.(5470-5475)gacctt>gaTTtt	p.L1825F	TNRC6B_uc003aym.3_Missense_Mutation_p.L1021F|TNRC6B_uc003ayn.4_Missense_Mutation_p.L1715F	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1825					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TACCTGGTGACCTTCTGGGAGG	0.505000														45			23		0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228474643	228474643	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228474643G>A	uc009xez.1	+	34	9491	c.9447G>A	c.(9445-9447)cgG>cgA	p.R3149R	OBSCN_uc001hsn.3_Silent_p.R3149R|OBSCN_uc001hsq.1_Silent_p.R405R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3149	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGCCACCGGGCCCAGCTGC	0.657000														7			13		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	106653533	106653533	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106653533C>T	uc021ser.1	-	1432		c.28710G>A								Parts of antibodies, mostly variable regions.																		CCCACTCCAGCCCCTTTCCTG	0.552000														85			33		0	0	0.004878	0	0
A4GALT	53947	broad.mit.edu	37	22	43089153	43089153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:43089153C>T	uc003bdb.3	-	2	1066	c.805G>A	c.(805-807)Gag>Aag	p.E269K	A4GALT_uc021wqo.1_Missense_Mutation_p.E269K|A4GALT_uc021wqp.1_Missense_Mutation_p.E269K|A4GALT_uc010gzd.3_Missense_Mutation_p.E269K|A4GALT_uc021wqq.1_Missense_Mutation_p.E269K	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	269					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCGCGGCTCTCGGCCAGGCTG	0.647000														2			8		0	0	0.000673	0	0
AMBN	258	broad.mit.edu	37	4	71472009	71472009	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:71472009C>T	uc003hfl.3	+	12	1007	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	302					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCGGTGACTTCACTCTGGAAT	0.577000														21			15		0	0	0.004007	0	0
ANO4	121601	broad.mit.edu	37	12	101477506	101477506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:101477506G>A	uc010svm.1	+	15	2018	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	ANO4_uc001thw.2_Missense_Mutation_p.M447I|ANO4_uc001thx.2_Missense_Mutation_p.M482I|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	482						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						AAGAGCGGATGAATCCAATTT	0.383000										HNSCC(74;0.22)				4			39		0	0	0.006230	0	0
C7orf58	79974	broad.mit.edu	37	7	120767240	120767240	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:120767240T>A	uc003vjq.4	+	9	1678	c.1231T>A	c.(1231-1233)Ttc>Atc	p.F411I	C7orf58_uc003vjr.1_Missense_Mutation_p.F411I|C7orf58_uc003vjs.4_Missense_Mutation_p.F411I|C7orf58_uc003vjt.4_Missense_Mutation_p.F191I|C7orf58_uc010lkk.2_Missense_Mutation_p.F191I	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	411						endoplasmic reticulum		p.F411F(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CAATTTTCTCTTCCCTAATGA	0.289000														43			11		0	0	0.000673	0	0
SPOCK3	50859	broad.mit.edu	37	4	168155240	168155240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:168155240C>T	uc011cjq.1	-	0	178	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	SPOCK3_uc021xuf.1_Missense_Mutation_p.A29T|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Missense_Mutation_p.A29T|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Missense_Mutation_p.A29T|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Missense_Mutation_p.A29T|SPOCK3_uc011cju.1_5'UTR|SPOCK3_uc011cjv.1_Missense_Mutation_p.A29T|SPOCK3_uc003irk.4_Missense_Mutation_p.A29T|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	29					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CGCCCCCCGGCTGCAGCCACC	0.577000														22			21		0	0	0.001882	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250436	140250436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140250436C>T	uc003lia.2	+	0	2606	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.S583L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	597					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGCGGTCGGTGGGTGCG	0.667000														70			57		0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54435820	54435820	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:54435820C>T	uc021smr.1	+	2	3010	c.3010C>T	c.(3010-3012)Cga>Tga	p.R1004*	UNC13C_uc021sms.1_Nonsense_Mutation_p.R1004*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1004					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)		ATTTAAGGCTCGAATAGTAAG	0.388000														13			14		0	0	0.004007	0	0
DTNB	1838	broad.mit.edu	37	2	25611084	25611084	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:25611084C>T	uc002rgh.3	-	16	1972	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	DTNB_uc002rgg.3_Silent_p.E203E|DTNB_uc010yko.2_Silent_p.E510E|DTNB_uc002rgi.3_Silent_p.E574E|DTNB_uc002rgj.3_Silent_p.E574E|DTNB_uc002rgk.3_Silent_p.E544E|DTNB_uc002rgl.3_Silent_p.E537E|DTNB_uc002rgq.3_Silent_p.E567E|DTNB_uc002rgn.3_Silent_p.E363E|DTNB_uc010ykp.2_Silent_p.E363E|DTNB_uc002rgp.1_Silent_p.E72E	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	574						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCGAAGGCCTCCTGCACGT	0.612000														5			7		0	0	0.003080	0	0
CECR2	27443	broad.mit.edu	37	22	18028180	18028180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:18028180G>A	uc010gqw.1	+	15	3131	c.3131G>A	c.(3130-3132)gGg>gAg	p.G1044E	CECR2_uc010gqv.1_Missense_Mutation_p.G904E|CECR2_uc002zml.2_Missense_Mutation_p.G905E|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1088					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding	p.S1044L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGATCGGAGGGGAAGGGCCTT	0.617000														11			23		0	0	0.002780	0	0
NXF4	55999	broad.mit.edu	37	X	101818182	101818182	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:101818182C>T	uc004ejf.1	+	6		c.772C>T								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						CTCTTGATCTCCAGAGGCTCC	0.532000														93			39		0	0	0.002222	0	0
TMEM117	84216	broad.mit.edu	37	12	44770458	44770458	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:44770458T>C	uc001rod.3	+	6	915	c.849T>C	c.(847-849)atT>atC	p.I283I	TMEM117_uc001roe.3_Silent_p.I179I|TMEM117_uc009zkc.3_Intron	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	283						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AGTTCAAGATTCCTTTCTTCC	0.383000														7			40		0	0	0.007835	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250188	140250188	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140250188C>T	uc003lia.2	+	0	2358	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.D500D	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.K499K(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)			GGTTGGGCGACCGCGCGCTGT	0.682000														70			64		0	0	0.003610	0	0
LDLR	3949	broad.mit.edu	37	19	11216251	11216251	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:11216251G>A	uc002mqk.4	+	3	856	c.669G>A	c.(667-669)aaG>aaA	p.K223K	LDLR_uc010xlk.2_Silent_p.K223K|LDLR_uc010xll.2_Silent_p.K182K|LDLR_uc021upc.1_Silent_p.K102K|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Silent_p.K76K|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	223	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCGACTGCAAGGACAAATCTG	0.647000														140			77		0	0	0.003610	0	0
WNK3	65267	broad.mit.edu	37	X	54337606	54337606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54337606C>T	uc004dtc.2	-	2	1095	c.656G>A	c.(655-657)gGa>gAa	p.G219E	WNK3_uc004dtd.2_Missense_Mutation_p.G219E	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	219	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACATTTCTTTCCTTTTAATAT	0.373000														17			8		0	0	0.003080	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000372	41000372	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41000372G>A	uc003jmj.4	-	38	4922	c.4432C>T	c.(4432-4434)Cag>Tag	p.Q1478*	HEATR7B2_uc003jmi.4_Nonsense_Mutation_p.Q1033*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1478							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGTAGATCCTGATCAAGGAGA	0.498000														31			22		0	0	0.001523	0	0
CSMD3	114788	broad.mit.edu	37	8	113254008	113254008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:113254008G>A	uc003ynu.3	-	65	10568	c.10409C>T	c.(10408-10410)tCt>tTt	p.S3470F	CSMD3_uc003yns.3_Missense_Mutation_p.S2672F|CSMD3_uc003ynt.3_Missense_Mutation_p.S3430F|CSMD3_uc011lhx.2_Missense_Mutation_p.S3301F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3470						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATATTTTAGAACCAGCTAT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				32			47		0	0	0.003610	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915871	77915871	+	Silent	SNP	G	A	A	rs150703060	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:77915871G>A	uc002jxj.3	-	10	2159	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	TBC1D16_uc002jxh.3_Silent_p.L319L|TBC1D16_uc002jxi.3_Silent_p.L306L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	681						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCGGAGAACGAGCTCCCCGT	0.657000														30			14		0	0	0.004990	0	0
ADAM7	8756	broad.mit.edu	37	8	24324458	24324458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24324458C>T	uc003xeb.3	+	5	649	c.536C>T	c.(535-537)aCt>aTt	p.T179I	ADAM7_uc003xea.1_Missense_Mutation_p.T179I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	179					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCAGAAAAACTGTTCCAGGG	0.348000														25			47		0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108488746	108488746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:108488746G>A	uc010ywk.2	+	19	4368	c.4286G>A	c.(4285-4287)tGg>tAg	p.W1429*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.W616*|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1429	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTATGGGTGTGGACTGCATGT	0.373000														102			88		0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31593227	31593227	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:31593227C>T	uc002rnv.1	-	17	2053	c.1974G>A	c.(1972-1974)aaG>aaA	p.K658K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	658					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.A657A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTACCTTATCCTTCGCAAAGA	0.348000														26			12		0	0	0.003163	0	0
FAT3	120114	broad.mit.edu	37	11	92086102	92086102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:92086102C>T	uc001pdj.4	+	0	841	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	275	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCCTTTCTCGTTGGAAAAA	0.448000										TCGA Ovarian(4;0.039)				126			70		0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864151	144864151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:144864151G>A	uc021ouh.1	-	35	6246	c.5944C>T	c.(5944-5946)Cag>Tag	p.Q1982*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.Q1982*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.Q1876*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.Q989*|PDE4DIP_uc001ema.3_Nonsense_Mutation_p.Q169*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1982					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGTTTTCCTGGAGGGAAAGA	0.483000			T	PDGFRB	MPD									248			46		0	0	0.003610	0	0
GAB4	128954	broad.mit.edu	37	22	17472821	17472821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17472821C>T	uc002zlw.3	-	1	528	c.420G>A	c.(418-420)atG>atA	p.M140I	GAB4_uc010gqs.1_Missense_Mutation_p.M140I	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	140	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCCACTCATTCATGTCCTCCC	0.517000														57			154		0	0	0.003610	0	0
BTNL8	79908	broad.mit.edu	37	5	180335740	180335740	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:180335740G>A	uc003mmp.3	+	1	438	c.204G>A	c.(202-204)agG>agA	p.R68R	BTNL8_uc003mmq.3_Silent_p.R68R|BTNL8_uc010jll.3_Silent_p.R68R|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	68	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCTACAGGGACGGGAAGG	0.547000														80			62		0	0	0.003610	0	0
CLSTN3	9746	broad.mit.edu	37	12	7301721	7301721	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:7301721C>T	uc001qss.3	+	11	2575	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	CLSTN3_uc001qsr.3_Silent_p.F667F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	667					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCCCTTTGTTCCCTGATCTTC	0.567000														14			14		0	0	0.004007	0	0
ARMC4	55130	broad.mit.edu	37	10	28151542	28151542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:28151542C>T	uc009xky.3	-	17	2718	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	ARMC4_uc010qds.2_Missense_Mutation_p.E399K|ARMC4_uc010qdt.2_Missense_Mutation_p.E566K|ARMC4_uc001itz.3_Missense_Mutation_p.E874K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	874							binding	p.G873A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGAACCATTTCCCCAGCATCC	0.363000														8			8		0	0	0.003080	0	0
ZNF257	113835	broad.mit.edu	37	19	22270835	22270835	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:22270835T>A	uc010ecx.3	+	3	452	c.283T>A	c.(283-285)Ttc>Atc	p.F95I	ZNF257_uc010ecy.3_Missense_Mutation_p.F63I	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAATATTTTTTCCAAAAAGT	0.338000														25			25		0	0	0.004656	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702954	27702954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:27702954G>A	uc001itu.2	-	0	344	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	76					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(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						GACGGCCGGGGGGGTGCATCG	0.721000														27			11		0	0	0.000978	0	0
CPNE5	57699	broad.mit.edu	37	6	36746699	36746699	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:36746699C>T	uc003omr.1	-	8	631	c.564G>A	c.(562-564)ctG>ctA	p.L188L	CPNE5_uc003oms.1_Silent_p.L167L	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	188	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTTTCTTGTCCAGCTTGTTGG	0.537000														20			73		0	0	0.003610	0	0
EDARADD	128178	broad.mit.edu	37	1	236631543	236631543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:236631543G>A	uc001hxu.1	+	4	297	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	EDARADD_uc001hxv.1_Missense_Mutation_p.G68S	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	78					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAAGAAAATGGCTTTCCAGA	0.353000														97			24		0	0	0.007291	0	0
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:167168167C>T	uc010fpl.3	-	1	441	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(4)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTTGGGTTCCTTTGATTTT	0.468000														66			32		0	0	0.002096	0	0
GPC5	2262	broad.mit.edu	37	13	92345938	92345938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:92345938C>T	uc010tif.2	+	2	1189	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	275						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGGATACTGCCTCAATGTCAT	0.552000														25			22		0	0	0.003330	0	0
NEFH	4744	broad.mit.edu	37	22	29885807	29885807	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:29885807G>A	uc003afo.3	+	3	2249	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	732	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTCCCCAGTGAAGGAAGAAG	0.557000														56			75		0	0	0.003610	0	0
C6orf203	51250	broad.mit.edu	37	6	107361206	107361206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:107361206C>T	uc011eaj.2	+	2	932	c.257C>T	c.(256-258)tCc>tTc	p.S86F	C6orf203_uc003prq.3_Missense_Mutation_p.S81F|C6orf203_uc010kde.3_Missense_Mutation_p.S81F	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	81										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTTCCTTTTTCCGTAAGACTC	0.338000														14			80		0	0	0.003610	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396198	136396198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:136396198C>T	uc002tuo.3	+	11	1284	c.914C>T	c.(913-915)tCc>tTc	p.S305F	R3HDM1_uc010fni.3_Missense_Mutation_p.S303F|R3HDM1_uc002tup.3_Missense_Mutation_p.S249F|R3HDM1_uc010zbh.2_Missense_Mutation_p.S137F	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	305							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TCCCTGTGTTCCCAAGAGAAT	0.299000														32			6		0	0	0.003080	0	0
KIAA1210	57481	broad.mit.edu	37	X	118219348	118219348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:118219348C>T	uc004era.4	-	11	4846	c.4846G>A	c.(4846-4848)Gag>Aag	p.E1616K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1616			E -> G (in dbSNP:rs2305570).							breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTCCTACCTCATATTTAGGC	0.458000														58			59		0	0	0.003610	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605519	159605519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:159605519C>T	uc003fcq.2	+	7	1428	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.S389F|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.S340F|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.S327F|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.S108F|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.S300F|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.S97F	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	340						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TCTTCCTATTCTGATAGAGAC	0.468000														77			97		0	0	0.003610	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957679	52957679	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:52957679G>A	uc001wzs.3	-	9	1250	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TXNDC16_uc010tqu.2_Silent_p.L262L|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	267					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGCCCAGTTGGAGATGGACAG	0.383000														31			17		0	0	0.004990	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346610	70346610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:70346610C>T	uc003hek.4	-	5	1376	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	UGT2B4_uc011cap.2_Missense_Mutation_p.M307I|UGT2B4_uc003hel.4_Silent_p.*370*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	443					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGATAATTTCATAGCATTCT	0.418000														46			16		0	0	0.006122	0	0
NLRP4	147945	broad.mit.edu	37	19	56392888	56392888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56392888G>A	uc002qmd.4	+	9	3342	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	NLRP4_uc002qmf.3_Missense_Mutation_p.E899K|NLRP4_uc010etf.3_Missense_Mutation_p.E749K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	974							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACGGCTGAGGAAGAGAGAAA	0.433000														6			19		0	0	0.007413	0	0
OR11H4	390442	broad.mit.edu	37	14	20711184	20711184	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20711184C>T	uc010tld.2	+	0	234	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATTTTGCCTTCCTTGAGATCT	0.468000														81			68		0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884529	228884529	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:228884529G>A	uc002vpq.2	-	6	1088	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	SPHKAP_uc002vpp.2_Silent_p.S347S|SPHKAP_uc010zlx.1_Silent_p.S347S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	347						cytoplasm	protein binding	p.S347T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCATCATGGAGAAATAAG	0.423000														41			29		0	0	0.002096	0	0
LCT	3938	broad.mit.edu	37	2	136548269	136548269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:136548269C>T	uc002tuu.1	-	14	5305	c.5294G>A	c.(5293-5295)aGg>aAg	p.R1765K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1765	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTAGTAGATCCTTGCAGTGTC	0.502000														39			18		0	0	0.006122	0	0
KCNK3	3777	broad.mit.edu	37	2	26950690	26950690	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:26950690C>T	uc002rhn.2	+	1	602	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	147					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGAAGGGGCTGGGCATGCG	0.662000														50			31		0	0	0.003271	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547701	125547701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:125547701G>A	uc010flu.3	+	17	3339	c.2975G>A	c.(2974-2976)gGg>gAg	p.G992E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G991E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	991	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTATGAAGGGCCCTTTTGC	0.522000														11			8		0	0	0.003080	0	0
WDR72	256764	broad.mit.edu	37	15	53907812	53907812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:53907812G>A	uc002acj.2	-	14	2633	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F	WDR72_uc010bfi.1_Missense_Mutation_p.S864F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	864										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AACTTTCCTGGAAAATAAATT	0.353000														19			4		0	0	0.000248	0	0
CDH18	1016	broad.mit.edu	37	5	19473502	19473502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:19473502G>A	uc003jgd.3	-	12	2740	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Nonsense_Mutation_p.Q736*|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	736					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCATAAGTCTGAAGAGAGTCA	0.473000														31			22		0	0	0.002299	0	0
LMTK2	22853	broad.mit.edu	37	7	97833287	97833287	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:97833287C>T	uc003upd.2	+	12	4565	c.4272C>T	c.(4270-4272)tcC>tcT	p.S1424S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1424					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGACTTCTCCCCAGATCCTT	0.507000														171			36		0	0	0.004878	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117246	117246	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000205.1:117246C>T	uc002kgk.4	+	0		c.624C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGGAATTCGCCCCCAGATCAT	0.527000														31			8		0	0	0.003080	0	0
INADL	10207	broad.mit.edu	37	1	62626602	62626602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:62626602G>A	uc001dab.3	+	42	5515	c.5401G>A	c.(5401-5403)Gat>Aat	p.D1801N	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1801					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGACGGCCGATTAAAACGA	0.413000														23			5		0	0	0.001168	0	0
NOTUM	147111	broad.mit.edu	37	17	79914536	79914536	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79914536C>T	uc010wvg.2	-	7	1250	c.978G>A	c.(976-978)ccG>ccA	p.P326P		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	326						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCGCAGGGTCGGGTAGACCT	0.632000														47			19		0	0	0.001216	0	0
FRYL	285527	broad.mit.edu	37	4	48622756	48622756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:48622756G>A	uc003gyh.1	-	5	819	c.214C>T	c.(214-216)Cct>Tct	p.P72S	FRYL_uc003gyk.3_Missense_Mutation_p.P72S|FRYL_uc003gyl.1_Missense_Mutation_p.P123S|FRYL_uc003gym.1_Missense_Mutation_p.P72S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.P72L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTAAGGAAGGGAGACAGTGC	0.413000														33			9		0	0	0.004482	0	0
LRRK2	120892	broad.mit.edu	37	12	40643653	40643653	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:40643653A>T	uc001rmg.4	+	7	985	c.864A>T	c.(862-864)ttA>ttT	p.L288F	LRRK2_uc001rmh.1_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	288					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCCTGGTATTAAACGAAGTCC	0.383000														8			27		0	0	0.007291	0	0
PLSCR4	57088	broad.mit.edu	37	3	145918825	145918825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:145918825C>T	uc010huy.3	-	4	723	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PLSCR4_uc010huz.3_Missense_Mutation_p.E132K|PLSCR4_uc003evt.4_Missense_Mutation_p.E132K|PLSCR4_uc010hva.3_Intron|PLSCR4_uc003evu.4_Intron	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	132					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TACATACTTTCCAGAGGCTCA	0.318000														9			13		0	0	0.001855	0	0
CPT1C	126129	broad.mit.edu	37	19	50214099	50214099	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:50214099G>A	uc010eng.3	+	15	2167	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	CPT1C_uc002ppl.4_3'UTR|CPT1C_uc002ppi.3_Silent_p.E534E|CPT1C_uc002ppk.3_Silent_p.E606E|CPT1C_uc010enh.3_Silent_p.E617E|CPT1C_uc002ppj.3_Silent_p.E617E|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Silent_p.E274E	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	617					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGGCCATGGAGGACAAAGAGA	0.552000														36			7		0	0	0.001984	0	0
GSTK1	373156	broad.mit.edu	37	7	142960654	142960654	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142960654C>T	uc003wci.3	+	0	133	c.48C>T	c.(46-48)tcC>tcT	p.S16S	GSTK1_uc011ksy.2_Silent_p.S16S|GSTK1_uc003wcj.3_Silent_p.S16S|GSTK1_uc011ksz.2_Silent_p.S16S	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16	Glutathione binding.					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	ACGTGCTGTCCCCCTACTCCT	0.682000														69			12		0	0	0.003163	0	0
TGM7	116179	broad.mit.edu	37	15	43568686	43568686	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:43568686C>T	uc001zrf.1	-	12	2105	c.2100G>A	c.(2098-2100)aaG>aaA	p.K700K		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	700					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CGAAGATGTCCTTGTAGCCTT	0.607000														100			18		0	0	0.001523	0	0
SLAMF6	114836	broad.mit.edu	37	1	160456516	160456516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:160456516G>A	uc001fwe.2	-	7	1050	c.980C>T	c.(979-981)gCc>gTc	p.A327V	SLAMF6_uc010pji.2_Missense_Mutation_p.A216V|SLAMF6_uc001fwd.2_Missense_Mutation_p.A326V|SLAMF6_uc010pjh.2_Missense_Mutation_p.A277V	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	327						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATTGTCAAGGGCAGTTGCCCT	0.473000														20			10		0	0	0.006214	0	0
SCARA3	51435	broad.mit.edu	37	8	27516431	27516431	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:27516431C>T	uc003xga.1	+	4	885	c.744C>T	c.(742-744)ctC>ctT	p.L248L	SCARA3_uc003xgb.1_Silent_p.L248L	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	248					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCCTGACCCTCCAGAAGATTG	0.592000														15			21		0	0	0.003330	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725157	140725157	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140725157C>T	uc003ljm.2	+	0	1557	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.S519S	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	521	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGAGATCCTTCGACTACG	0.557000														44			54		0	0	0.003610	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764194	83764194	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:83764194C>T	uc003uhz.3	-	1	501	c.186G>A	c.(184-186)ttG>ttA	p.L62L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	62	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GTTCCTCATCCAAAAGGAAGG	0.388000														17			40		0	0	0.001951	0	0
ADAM29	11086	broad.mit.edu	37	4	175897465	175897465	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:175897465G>A	uc003iuc.3	+	4	1459	c.789G>A	c.(787-789)agG>agA	p.R263R	ADAM29_uc003iud.3_Silent_p.R263R|ADAM29_uc010irr.3_Silent_p.R263R|ADAM29_uc011cki.2_Silent_p.R263R|ADAM29_uc021xuo.1_Silent_p.R263R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	263	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGATGTAAGGAAATCTGTGC	0.403000														27			31		0	0	0.001512	0	0
CCDC141	285025	broad.mit.edu	37	2	179702336	179702336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179702336C>T	uc002une.2	-	22	3728	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	CCDC141_uc002unf.1_Missense_Mutation_p.E683K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	629							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATATTCTTCCCCTGAGAGC	0.567000														37			20		0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179496982	179496982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179496982C>T	uc021vsy.1	-	184	36160	c.35935G>A	c.(35935-35937)Gaa>Aaa	p.E11979K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5674K|TTN_uc021vta.1_Missense_Mutation_p.E5607K|TTN_uc021vtb.1_Missense_Mutation_p.E5482K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12906	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCCCTTCGTCTTGCATT	0.433000														5			3		0	0	0.000248	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595871	64595871	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:64595871C>T	uc003jtp.3	-	9	2125	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.A58A	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	437	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATTGGTATTCGCAGTAATGT	0.413000														29			30		0	0	0.002096	0	0
INPPL1	3636	broad.mit.edu	37	11	71946937	71946938	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:71946937_71946938CC>TT	uc001osf.3	+	24	2933_2934	c.2786_2787CC>TT	c.(2785-2787)tcc>tTT	p.S929F	INPPL1_uc001osg.3_Missense_Mutation_p.S687F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	929					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCCCGCTCTCCAGGTTATTTG	0.653000														35			24		0	0	0.004672	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885264	88885264	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:88885264C>T	uc003ydz.3	-	0	1033	c.936G>A	c.(934-936)gtG>gtA	p.V312V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	312										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGGAGTTATTCACATGACCTT	0.527000														43			15		0	0	0.003163	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704456	41704456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:41704456G>A	uc002opw.3	+	3	638	c.583G>A	c.(583-585)Gat>Aat	p.D195N	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	195					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTCCTATGAGGATAAGGAGTT	0.642000														100			20		0	0	0.001882	0	0
POTEF	728378	broad.mit.edu	37	2	130877771	130877771	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:130877771G>A	uc010fmh.2	-	2	718	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	106						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCAGCAGGGGAAGCAGTGGC	0.602000														117			41		0	0	0.003610	0	0
NAIP	4671	broad.mit.edu	37	5	70308571	70308571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:70308571G>A	uc003kar.1	-	3	890	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.R58C|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	58					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTTCACTGCGCATTTGAGAG	0.483000														131			32		0	0	0.004289	0	0
ESRP1	54845	broad.mit.edu	37	8	95683804	95683804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:95683804C>T	uc003ygq.4	+	10	1540	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	ESRP1_uc003ygr.4_Missense_Mutation_p.P453S|ESRP1_uc003ygs.4_Missense_Mutation_p.P453S|ESRP1_uc003ygt.4_Missense_Mutation_p.P453S|ESRP1_uc003ygu.4_Missense_Mutation_p.P453S|ESRP1_uc003ygv.3_Missense_Mutation_p.P293S|ESRP1_uc003ygw.3_Missense_Mutation_p.P293S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	453	RRM 3.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCGAGGTCTTCCCTATGCAGC	0.488000														168			254		0	0	0.003610	0	0
GBA3	57733	broad.mit.edu	37	4	22820495	22820495	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:22820495C>T	uc003gqp.4	+	4	1450	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A	GBA3_uc010iep.3_Silent_p.A146A|GBA3_uc011bxo.2_Silent_p.A454A	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	453					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.S452L(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACACATCGGCCAAGGAATAAG	0.488000														12			10		0	0	0.000673	0	0
OR8U8	504189	broad.mit.edu	37	11	56143987	56143987	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:56143987G>A	uc001nit.2	+	0	888	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AGAATAAGGAGGTGAAAGAAG	0.373000														40			17		0	0	0.006122	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895374	42895374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:42895374G>A	uc003gwt.3	+	0	92	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	31					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTTCTGAAGGAAGTGTATGA	0.522000														41			15		0	0	0.003163	0	0
XIRP2	129446	broad.mit.edu	37	2	168106316	168106316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:168106316G>A	uc002udx.3	+	8	8503	c.8414G>A	c.(8413-8415)aGa>aAa	p.R2805K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2630K|XIRP2_uc010fpq.3_Missense_Mutation_p.R2583K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2630					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						AGGAAGCAAAGAGAATTTAGC	0.403000														10			13		0	0	0.002450	0	0
GPR139	124274	broad.mit.edu	37	16	20043083	20043083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20043083C>T	uc002dgu.1	-	1	1198	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	GPR139_uc010vaw.1_Missense_Mutation_p.G253R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	346						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATAGGTTTTCCATTTTTGTCA	0.458000														86			31		0	0	0.001512	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817514	26817514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:26817514G>A	uc010wan.2	+	2	488	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SLC13A2_uc010wal.1_Missense_Mutation_p.G49R|SLC13A2_uc010wam.2_Missense_Mutation_p.G48R|SLC13A2_uc002hbh.3_Missense_Mutation_p.G92R|SLC13A2_uc010wao.2_Missense_Mutation_p.G49R|SLC13A2_uc002hbi.3_Missense_Mutation_p.G21R	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	92						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTGTTCTTCGGGGGGCTGCT	0.637000														17			115		0	0	0.003610	0	0
EPHA4	2043	broad.mit.edu	37	2	222307622	222307622	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:222307622G>A	uc002vmq.3	-	10	2043	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	EPHA4_uc002vmr.2_Silent_p.F667F|EPHA4_uc010zlm.1_Silent_p.F608F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	667	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCTCACTCAGGAAGTCTCTCC	0.498000														49			32		0	0	0.001786	0	0
TRPV6	55503	broad.mit.edu	37	7	142573565	142573565	+	Silent	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142573565G>C	uc003wbx.2	-	6	1084	c.855C>G	c.(853-855)tcC>tcG	p.S285S	TRPV6_uc003wbw.1_Silent_p.S71S|TRPV6_uc010lou.1_Silent_p.S156S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	285					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATCCCCTGAGGAGTCGATCT	0.562000														104			22		0	0	0.001523	0	0
PCLO	27445	broad.mit.edu	37	7	82585473	82585473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82585473C>T	uc003uhx.2	-	4	5085	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E	PCLO_uc003uhv.2_Missense_Mutation_p.G1599E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1530					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCCTTTTCCCTTTGTTTC	0.428000														53			102		0	0	0.003610	0	0
RASAL1	8437	broad.mit.edu	37	12	113537768	113537768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:113537768C>T	uc001tun.2	-	21	2688	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	RASAL1_uc010syp.2_Missense_Mutation_p.R795Q|RASAL1_uc001tul.3_Missense_Mutation_p.R766Q|RASAL1_uc001tum.2_Missense_Mutation_p.R794Q	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	794					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGCCTTCCCTCGCTCCTGCTG	0.672000														41			38		0	0	0.002222	0	0
NFAM1	150372	broad.mit.edu	37	22	42783016	42783016	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:42783016G>A	uc003bcn.4	-	4	770	c.732C>T	c.(730-732)gcC>gcT	p.A244A		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	244					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GGCTCTGCTTGGCGGTGGGTG	0.632000														98			20		0	0	0.001882	0	0
PODNL1	79883	broad.mit.edu	37	19	14048660	14048660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:14048660C>T	uc002mxr.3	-	1	458	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	PODNL1_uc010xni.2_Missense_Mutation_p.M1I|PODNL1_uc010xnj.2_Missense_Mutation_p.G60S|PODNL1_uc002mxs.3_Missense_Mutation_p.G60S	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	62	LRRNT.|Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGGTCCAAGCCATCACAGTCC	0.687000														4			7		0	0	0.000673	0	0
VASH1	22846	broad.mit.edu	37	14	77236309	77236309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:77236309C>T	uc001xst.2	+	1	1243	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	VASH1_uc001xss.3_Missense_Mutation_p.P105S	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	105					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TCCCCAGATCCCCATACCGAG	0.602000														66			65		0	0	0.003610	0	0
DCAF6	55827	broad.mit.edu	37	1	168032874	168032874	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:168032874C>T	uc001gew.3	+	14	2396	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	DCAF6_uc001gex.3_Silent_p.A772A|DCAF6_uc010plk.2_Silent_p.A741A|DCAF6_uc001gev.3_Silent_p.A701A|DCAF6_uc001gey.3_Silent_p.A554A|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	681	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGCTGTTGCCCGTATTCAGG	0.299000														6			5		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181907	140181907	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140181907C>T	uc003lhf.2	+	0	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S375S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	390	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483000														39			35		0	0	0.002445	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751815	62751815	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62751815G>A	uc001nwk.3	-	0	681	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SLC22A6_uc001nwl.3_Silent_p.F116F|SLC22A6_uc001nwj.3_Silent_p.F116F|SLC22A6_uc001nwm.3_Silent_p.F116F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	116					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGTAGATGGGAAGGTGCTGT	0.552000														29			15		0	0	0.004990	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618135	28618135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28618135C>T	uc002dqn.3	-	8	1406	c.814G>A	c.(814-816)Gag>Aag	p.E272K	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.E181K|SULT1A1_uc002dqi.3_Missense_Mutation_p.E181K|SULT1A1_uc002dqk.3_Missense_Mutation_p.E181K|SULT1A1_uc002dql.3_Missense_Mutation_p.E181K|SULT1A1_uc002dqm.3_Missense_Mutation_p.E103K|SULT1A1_uc002dqp.3_Missense_Mutation_p.E181K	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CGGCTCAGCTCCCACCACTCC	0.602000														216			45		0	0	0.003610	0	0
TRIM21	6737	broad.mit.edu	37	11	4406621	4406621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4406621G>A	uc001lyy.1	-	6	1435	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	441	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGGCCGCAGAGGTCCTGTAAA	0.498000														9			5		0	0	0.000602	0	0
RGS22	26166	broad.mit.edu	37	8	101083624	101083624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:101083624C>T	uc003yjb.1	-	5	762	c.567G>A	c.(565-567)atG>atA	p.M189I	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Intron|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.M93I	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	189					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAACTTTTTCATAATTACAA	0.343000														26			20		0	0	0.001523	0	0
CLCN4	1183	broad.mit.edu	37	X	10174571	10174571	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:10174571C>T	uc004csy.4	+	6	1159	c.729C>T	c.(727-729)tcC>tcT	p.S243S	CLCN4_uc011mid.2_Silent_p.S149S	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	243						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTTTTCTCCAAGTACAGCA	0.567000														17			11		0	0	0.000673	0	0
TTI1	9675	broad.mit.edu	37	20	36640472	36640472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:36640472C>T	uc002xhl.3	-	2	1956	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	TTI1_uc002xhm.3_Missense_Mutation_p.E583K	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	583							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATCAGCTCCTCTCCCATTTCC	0.458000														134			98		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113326807	113326807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:113326807C>T	uc003ynu.3	-	47	7559	c.7400G>A	c.(7399-7401)gGa>gAa	p.G2467E	CSMD3_uc003yns.3_Missense_Mutation_p.G1669E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2427E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2363E|CSMD3_uc003ynw.1_Missense_Mutation_p.G178E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2467	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATATGACTCCAGTAGAATC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				25			12		0	0	0.001368	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802974	185802974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:185802974C>T	uc002uph.3	+	3	3445	c.2851C>T	c.(2851-2853)Cct>Tct	p.P951S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	951						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAGCAAATTCCTTTTCAGGT	0.388000														36			30		0	0	0.001512	0	0
CSMD2	114784	broad.mit.edu	37	1	34080130	34080130	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:34080130C>T	uc001bxm.1	-	39	6284	c.6107G>A	c.(6106-6108)tGg>tAg	p.W2036*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTATTTTCCAGGAGCAGTC	0.567000														15			7		0	0	0.004482	0	0
EIF2B3	8891	broad.mit.edu	37	1	45341351	45341351	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:45341351G>T	uc001cmt.2	-	8	1198	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	EIF2B3_uc001cmu.2_Missense_Mutation_p.S331Y|EIF2B3_uc001cmw.3_Missense_Mutation_p.S331Y	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	331					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACAGAGAGCAGACAGCAATTT	0.512000														50			15		1.67942e-08	2.20732e-08	0.006122	1	0
GRM7	2917	broad.mit.edu	37	3	7620651	7620651	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:7620651G>A	uc003bqm.2	+	7	2332	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.Q686Q|GRM7_uc003bql.2_Silent_p.Q686Q|GRM7_uc003bqn.1_Silent_p.Q269Q|GRM7_uc010hch.1_Silent_p.Q197Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	686					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATTTGAGCAGGGCAAGAAAT	0.443000														16			22		0	0	0.001523	0	0
BCKDHA	593	broad.mit.edu	37	19	41928178	41928178	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:41928178C>T	uc002oqq.3	+	5	795	c.756C>T	c.(754-756)ttC>ttT	p.F252F	BCKDHA_uc002oqm.4_Silent_p.F286F|BCKDHA_uc002oqp.2_Silent_p.F144F|BCKDHA_uc002oqr.3_Silent_p.F252F|BCKDHA_uc010xvz.2_Silent_p.F230F	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	252					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCTTCAACTTCGCTGCCACAC	0.617000														38			39		0	0	0.002522	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223949	42223949	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:42223949C>T	uc002orl.3	+	6	1714	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	CEACAM5_uc002orj.1_Silent_p.T530T	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	531	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAACACAACCTACCTGTGGT	0.552000														76			17		0	0	0.006122	0	0
GRK1	6011	broad.mit.edu	37	13	114322232	114322232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:114322232G>A	uc010tkf.2	+	0	636	c.531G>A	c.(529-531)tgG>tgA	p.W177*		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	177	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TCCTGCAGTGGAAGTGGCTGG	0.652000														3			3		0	0	0.004672	0	0
C20orf160	140706	broad.mit.edu	37	20	30616856	30616856	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:30616856C>T	uc002wxf.2	+	6	1141	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	0										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						ACCTTCTTTCCATGGCTCCCA	0.602000														166			117		0	0	0.003610	0	0
OTOGL	283310	broad.mit.edu	37	12	80735867	80735867	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:80735867G>A	uc001szd.3	+	42	5169	c.5163G>A	c.(5161-5163)agG>agA	p.R1721R		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GACCTGTTAGGAATTGTACTG	0.313000														4			3		0	0	0.004672	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106498	148106498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:148106498C>T	uc003weu.2	+	22	4247	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L	CNTNAP2_uc003wev.2_Missense_Mutation_p.P21L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1244					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGGATTTTCCATATAATCCA	0.408000										HNSCC(39;0.1)				17			38		0	0	0.006230	0	0
CECR2	27443	broad.mit.edu	37	22	18022175	18022175	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:18022175G>A	uc010gqw.1	+	14	2271	c.2271G>A	c.(2269-2271)acG>acA	p.T757T	CECR2_uc010gqv.1_Silent_p.T618T|CECR2_uc002zml.2_Silent_p.T618T	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	801					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ATGGTGCTACGAACCAAGGAC	0.552000														28			8		0	0	0.003080	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321935	134321935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:134321935C>T	uc004can.4	+	5	816	c.761C>T	c.(760-762)tCt>tTt	p.S254F	PRRC2B_uc010mzj.1_5'Flank|PRRC2B_uc004cam.1_Missense_Mutation_p.S254F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	254							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGGACCCCTCTCTCCGCCCG	0.562000														2			18		0	0	0.006122	0	0
RGS22	26166	broad.mit.edu	37	8	100990159	100990159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:100990159C>T	uc003yjb.1	-	22	3700	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	RGS22_uc003yja.1_Missense_Mutation_p.E988K|RGS22_uc003yjc.1_Missense_Mutation_p.E1157K|RGS22_uc022azf.1_Missense_Mutation_p.E558K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1169					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCAGATTTTTCGTCTTCTAGG	0.299000														26			14		0	0	0.004990	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366015	64366015	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64366015C>T	uc001oam.1	+	4	1605	c.858C>T	c.(856-858)ctC>ctT	p.L286L	SLC22A12_uc009ypr.1_Silent_p.L311L|SLC22A12_uc001oal.1_Silent_p.L65L|SLC22A12_uc009yps.1_Silent_p.L252L|SLC22A12_uc001oan.1_Silent_p.L178L|SLC22A12_uc009ypt.3_Silent_p.L104L	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	286					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CACGATGGCTCCTCACCACAG	0.662000														3			7		0	0	0.003080	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948523	3948523	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:3948523C>T	uc011bvu.2	-	4		c.1812G>A			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GCTGGCACGTCTGTGGGTTGT	0.652000														35			19		0	0	0.007413	0	0
SMYD1	150572	broad.mit.edu	37	2	88383879	88383879	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:88383879A>G	uc002ssr.3	+	1	267	c.182A>G	c.(181-183)aAg>aGg	p.K61R	SMYD1_uc002ssq.2_Missense_Mutation_p.K61R|MIR4780_uc021vkp.1_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGCAGGAGAAGCTCCATCGC	0.522000														34			34		0	0	0.004878	0	0
RPTN	126638	broad.mit.edu	37	1	152127734	152127734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152127734C>T	uc001ezs.1	-	2	1906	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	614	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGATCTTCCTGATTGTTC	0.478000														45			45		0	0	0.003214	0	0
CCDC141	285025	broad.mit.edu	37	2	179701879	179701879	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179701879G>T	uc002une.2	-	22	4185	c.4067C>A	c.(4066-4068)aCt>aAt	p.T1356N	CCDC141_uc002unf.1_Missense_Mutation_p.T835N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	781							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTGGGTTTTAGTGAAGTTATT	0.493000														21			11		3.86212e-05	5.04448e-05	0.000673	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821665	5821665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:5821665C>T	uc010ndi.3	-	5	1629	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	NLGN4X_uc004crp.3_Missense_Mutation_p.D372N|NLGN4X_uc010ndh.3_Missense_Mutation_p.D352N|NLGN4X_uc004crq.3_Missense_Mutation_p.D352N|NLGN4X_uc004crr.3_Missense_Mutation_p.D352N|NLGN4X_uc010ndj.3_Missense_Mutation_p.D352N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	352					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTGGGGGTCGTCTGGGATG	0.597000														41			12		0	0	0.004007	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479045	55479045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55479045C>T	uc004dum.3	+	0	508	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	80	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GCCTTCAGTGCCCCGGAGCAA	0.567000														19			8		0	0	0.004482	0	0
MMRN2	79812	broad.mit.edu	37	10	88703170	88703170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:88703170C>T	uc001kea.3	-	5	1498	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	MMRN2_uc010qmn.2_Missense_Mutation_p.M100I|MMRN2_uc009xtb.2_Missense_Mutation_p.M414I	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	457						extracellular space		p.E459delE(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTTCTCCTCCATGATCAGAG	0.602000														15			9		0	0	0.004482	0	0
KIF21B	23046	broad.mit.edu	37	1	200969077	200969077	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:200969077G>A	uc001gvs.2	-	11	2018	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	KIF21B_uc009wzl.2_Silent_p.A567A|KIF21B_uc001gvr.2_Silent_p.A567A|KIF21B_uc010ppn.2_Silent_p.A567A	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	567					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTTTTTGAAGGCTTCCTTCT	0.622000														40			43		0	0	0.007835	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668361	176668361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:176668361C>T	uc001gkz.3	+	7	4036	c.2872C>T	c.(2872-2874)Caa>Taa	p.Q958*	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	958					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGCTCTTCCAACACCCGGT	0.572000														56			25		0	0	0.003330	0	0
ARX	170302	broad.mit.edu	37	X	25033674	25033674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:25033674C>T	uc004dbp.4	-	0	392	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	61						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						ACGGCCTTTTCCGGGTCGGCG	0.627000														19			7		0	0	0.004482	0	0
DNA2	1763	broad.mit.edu	37	10	70182600	70182600	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:70182600G>A	uc021pru.1	-	14	2514	c.2514C>T	c.(2512-2514)tcC>tcT	p.S838S	DNA2_uc021prt.1_Silent_p.S838S|DNA2_uc021prv.1_Silent_p.S9S|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	752					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AAATTTTACGGGAAAATATTG	0.333000														20			11		0	0	0.001368	0	0
RBL2	5934	broad.mit.edu	37	16	53496484	53496484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:53496484C>T	uc002ehi.4	+	10	1595	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	RBL2_uc010vgv.1_Missense_Mutation_p.R419C|RBL2_uc002ehj.3_Missense_Mutation_p.R203C|RBL2_uc010vgw.2_Missense_Mutation_p.R277C	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	493	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAAACATTTTCGTTTTGCGGA	0.338000														36			119		0	0	0.003610	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439912	150439912	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150439912C>T	uc022apw.1	+	5	1437	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	GIMAP1-GIMAP5_uc003whr.2_Silent_p.L229L	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGATGCCCAGCTGCTCCAAAG	0.597000														51			10		0	0	0.000673	0	0
PLCZ1	89869	broad.mit.edu	37	12	18849183	18849183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:18849183G>A	uc021qvx.1	-	10	1383	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y	PLCZ1_uc001rdv.4_Missense_Mutation_p.H294Y|PLCZ1_uc001rdw.4_Missense_Mutation_p.H139Y|PLCZ1_uc001rdu.1_Missense_Mutation_p.H180Y|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	398	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCTGGTGTGAAAAATAAAC	0.269000														1			4		0	0	0.001168	0	0
SPATA20	64847	broad.mit.edu	37	17	48626511	48626511	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:48626511C>T	uc002ird.3	+	5	765	c.624C>T	c.(622-624)gtC>gtT	p.V208V	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Silent_p.V148V|SPATA20_uc002irf.3_Silent_p.V192V|SPATA20_uc010wmv.1_Silent_p.V218V|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	192					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGACCCGAGTCGGCTTCCGCA	0.637000														14			90		0	0	0.003610	0	0
MAGED1	9500	broad.mit.edu	37	X	51644984	51644984	+	Silent	SNP	C	T	T	rs149192593		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:51644984C>T	uc004dpn.3	+	12	2653	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	MAGED1_uc004dpm.3_Silent_p.F765F|MAGED1_uc004dpo.3_Silent_p.F765F	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	765					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GTGCCAACTTCGCTGCCAACT	0.527000										Multiple Myeloma(10;0.10)				21			4		0	0	0.000248	0	0
ATP2B2	491	broad.mit.edu	37	3	10413714	10413714	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:10413714G>A	uc003bvt.3	-	11	1877	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	ATP2B2_uc003bvv.3_Silent_p.L435L|ATP2B2_uc003bvw.3_Silent_p.L435L|ATP2B2_uc010hdo.3_Silent_p.L185L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	480					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGCGTACCAGGTTGTTGTCC	0.577000														25			30		0	0	0.001786	0	0
REEP1	65055	broad.mit.edu	37	2	86459843	86459843	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:86459843G>T	uc021vke.1	-	5	528	c.521C>A	c.(520-522)cCc>cAc	p.P174H	REEP1_uc002srh.4_Missense_Mutation_p.P167H|REEP1_uc010yth.2_Missense_Mutation_p.P140H|REEP1_uc010yti.2_Missense_Mutation_p.P89T|REEP1_uc010ytg.2_Missense_Mutation_p.P146H	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	167					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGCCCGAGGGAGCAGGGGC	0.652000														21			19		1.28384e-07	1.68659e-07	0.001882	1	0
HPN	3249	broad.mit.edu	37	19	35551548	35551548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:35551548C>T	uc002nxq.2	+	9	883	c.638C>T	c.(637-639)tCc>tTc	p.S213F	HPN_uc002nxr.2_Missense_Mutation_p.S213F|HPN_uc010xsh.1_Missense_Mutation_p.S182F|HPN_uc002nxt.1_Missense_Mutation_p.S97F|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	213	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGGGTCCTGTCCCGATGGCGA	0.677000														64			9		0	0	0.004482	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468227	66468228	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:66468227_66468228CC>TT	uc001ojd.3	-	15	3414_3415	c.3342_3343GG>AA	c.(3340-3345)gtggag>gtAAag	p.E1115K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1115					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGGGCCCGCTCCACCTCTCCCC	0.688000														7			5		0	0	0.004672	0	0
NBEA	26960	broad.mit.edu	37	13	35615076	35615076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:35615076G>A	uc021rid.1	+	1	835	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	NBEA_uc021ric.1_Missense_Mutation_p.G101S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	101						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCAGCTGGTTGGTGGAGAATT	0.368000														35			24		0	0	0.004656	0	0
OR2H2	7932	broad.mit.edu	37	6	29555766	29555766	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:29555766C>T	uc003nmr.1	+	0	84	c.45C>T	c.(43-45)ttC>ttT	p.F15F	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	15					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F15F(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCTGGGCTTCTCTGAACACC	0.542000														65			55		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126372220	126372220	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126372220A>G	uc003ifj.4	+	8	10049	c.10049A>G	c.(10048-10050)aAg>aGg	p.K3350R	FAT4_uc011cgp.2_Missense_Mutation_p.K1648R|FAT4_uc003ifi.1_Missense_Mutation_p.K828R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3350	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGATCAATAAGAAGACTGGA	0.413000														27			29		0	0	0.007291	0	0
CDH7	1005	broad.mit.edu	37	18	63547653	63547653	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:63547653C>T	uc002lkb.3	+	11	2307	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	CDH7_uc002ljz.3_Silent_p.I627I	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	627					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCCTCCTTATCGTCACTATGA	0.443000														6			11		0	0	0.000978	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704232	29704232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:29704232C>T	uc003afa.1	+	1	336	c.137C>T	c.(136-138)cCg>cTg	p.P46L	GAS2L1_uc010gvm.1_Missense_Mutation_p.P46L|GAS2L1_uc003afb.1_Missense_Mutation_p.P46L|GAS2L1_uc003afc.1_Missense_Mutation_p.P46L|GAS2L1_uc003afd.1_Missense_Mutation_p.P46L|GAS2L1_uc003afe.1_Missense_Mutation_p.P46L	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	46	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CTGGGTCTCCCGGGTGGTGGC	0.672000														10			5		0	0	0.001168	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923887	56923887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:56923887G>A	uc002adu.3	-	21	2966	c.2749C>T	c.(2749-2751)Cat>Tat	p.H917Y	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Missense_Mutation_p.H904Y|ZNF280D_uc010bfq.3_Missense_Mutation_p.H917Y|ZNF280D_uc002adt.3_Missense_Mutation_p.H158Y|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGTTCCAAATGAATACTGCCT	0.408000														79			15		0	0	0.003163	0	0
JAK3	3718	broad.mit.edu	37	19	17943638	17943638	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17943638G>A	uc002nhn.4	-	17	2551	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.F817F	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	817					B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GTCTCTCCTCGAAGATCGTGG	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									59			90		0	0	0.003610	0	0
ZFAT	57623	broad.mit.edu	37	8	135669812	135669812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:135669812G>A	uc003yup.3	-	1	374	c.188C>T	c.(187-189)aCc>aTc	p.T63I	ZFAT_uc003yun.3_Missense_Mutation_p.T51I|ZFAT_uc003yuo.3_Missense_Mutation_p.T51I|ZFAT_uc010meh.3_Missense_Mutation_p.T51I|ZFAT_uc010mej.3_Missense_Mutation_p.T63I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.T51I|ZFAT_uc003yur.3_Missense_Mutation_p.T51I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCATCTCCGGTTTTGCTTGA	0.502000														22			35		0	0	0.002836	0	0
PLD3	23646	broad.mit.edu	37	19	40883978	40883978	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:40883978G>A	uc002onm.4	+	12	1769	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	PLD3_uc002onj.4_Silent_p.R457R|PLD3_uc002onn.3_Silent_p.R457R	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	457					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCGGCCTGCGGAGCCAGCTGG	0.632000														45			86		0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168909	44168909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:44168909C>T	uc003bdy.2	-	3	528	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.G69R|EFCAB6_uc003beb.4_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	72	EF-hand 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACTCATCCCCTCTGTCGGTA	0.398000														71			21		0	0	0.001882	0	0
WNK1	65125	broad.mit.edu	37	12	1005522	1005522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:1005522C>T	uc021qss.1	+	23	7292	c.6649C>T	c.(6649-6651)Cgt>Tgt	p.R2217C	WNK1_uc001qio.4_Missense_Mutation_p.R1957C|WNK1_uc021qst.1_Missense_Mutation_p.R2209C|WNK1_uc001qip.4_Missense_Mutation_p.R1709C|WNK1_uc001qir.4_Missense_Mutation_p.R1130C	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1957					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAAGTGGGTCGTTTCTCTGT	0.468000														18			48		0	0	0.003610	0	0
EPC1	80314	broad.mit.edu	37	10	32576187	32576187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:32576187G>A	uc001iwg.1	-	6	1261	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F	EPC1_uc001iwi.3_Missense_Mutation_p.L281F|EPC1_uc009xlt.2_Missense_Mutation_p.L281F|EPC1_uc001iwh.1_Missense_Mutation_p.L331F	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	331					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTCGGATAAGATCGGCTTTA	0.418000														19			14		0	0	0.002450	0	0
FRMD7	90167	broad.mit.edu	37	X	131234671	131234671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:131234671C>T	uc004ewn.3	-	1	309	c.131G>A	c.(130-132)gGa>gAa	p.G44E	FRMD7_uc011muy.2_Missense_Mutation_p.G44E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	44	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAATTCTAATCCAAAATATTC	0.368000														34			27		0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9061313	9061313	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9061313C>T	uc002mkp.3	-	2	26337	c.26133G>A	c.(26131-26133)agG>agA	p.R8711R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8713	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						TACTGATCTCCCTTAATCCAG	0.493000														9			17		0	0	0.006122	0	0
NUDT7	283927	broad.mit.edu	37	16	77769830	77769830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:77769830C>T	uc010chd.3	+	2	386	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	NUDT7_uc021tlp.1_Missense_Mutation_p.L99F|NUDT7_uc021tlq.1_Intron|NUDT7_uc010vnj.2_Intron	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	99	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GGAAGTGGGTCTCCGTCCTCA	0.572000														10			22		0	0	0.001523	0	0
NPTX2	4885	broad.mit.edu	37	7	98257929	98257929	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98257929C>T	uc003upl.2	+	4	1461	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	428	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAGCGTCTCCTTGACTTGT	0.582000														4			11		0	0	0.001368	0	0
IGHE	3497	broad.mit.edu	37	14	106329415	106329415	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106329415G>A	uc001yrw.1	-	0	48	c.36C>T	c.(34-36)gtC>gtT	p.V12V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_Silent_p.V12V|IGHE_uc001ysk.1_Silent_p.V12V|IGHE_uc001ysl.1_Silent_p.V12V|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank					RecName: Full=Ig epsilon chain C region;																		TACCTGAGGAGACGGTGACCG	0.542000														17			28		0	0	0.002852	0	0
C6orf136	221545	broad.mit.edu	37	6	30617572	30617572	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30617572C>T	uc003nqx.4	+	1	1046	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	C6orf136_uc003nqw.4_Silent_p.L104L|C6orf136_uc011dmn.2_Intron	NM_001161376	NP_001154848	Q5SQH8	CF136_HUMAN	Homo sapiens chromosome 6 open reading frame 136 (C6orf136), transcript variant 3, mRNA.	104										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TAGCGGCTGCCTGGATGGGCT	0.607000														111			76		0	0	0.003610	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088094	92088094	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:92088094C>T	uc001xzs.1	-	18	2258	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	CATSPERB_uc010aub.1_Silent_p.R228R	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	706					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCGTCCATTCCTTTGCCCAA	0.368000														47			26		0	0	0.005443	0	0
POTEF	728378	broad.mit.edu	37	2	130878064	130878064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:130878064G>A	uc010fmh.2	-	2	425	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	9						cell cortex	ATP binding	p.P9P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAGGCAGCCGGCATGGAATCA	0.542000														89			32		0	0	0.003610	0	0
OPN1SW	611	broad.mit.edu	37	7	128413859	128413859	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128413859G>A	uc003vnt.4	-	3	771	c.771C>T	c.(769-771)tcC>tcT	p.S257S		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	257					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGACACAGAAGGATCCTACCA	0.572000														15			29		0	0	0.006320	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895188	45895188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45895188G>A	uc002pbn.3	-	7	1842	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	PPP1R13L_uc002pbm.3_Missense_Mutation_p.P168S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P589S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	589	Pro-rich.				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)		GCCGGGGGTGGAATGGGAGCT	0.667000														49			27		0	0	0.004656	0	0
BCAS1	8537	broad.mit.edu	37	20	52645107	52645107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:52645107C>T	uc002xws.2	-	3	885	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BCAS1_uc010zzb.1_Missense_Mutation_p.E86K|BCAS1_uc010gim.2_Missense_Mutation_p.E86K|BCAS1_uc002xwt.2_Missense_Mutation_p.E183K|BCAS1_uc010gil.1_Missense_Mutation_p.E183K|BCAS1_uc010zzc.2_Missense_Mutation_p.E86K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	183						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAGGGAGCTTCTCCTCCTGCT	0.582000														83			68		0	0	0.003610	0	0
PACRGL	133015	broad.mit.edu	37	4	20706352	20706352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:20706352C>T	uc010iei.1	+	4	512	c.266C>T	c.(265-267)tCc>tTc	p.S89F	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.S41F|PACRGL_uc011bxm.2_Missense_Mutation_p.S41F|PACRGL_uc003gqa.3_Missense_Mutation_p.S41F|PACRGL_uc010iek.3_Missense_Mutation_p.S41F|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Missense_Mutation_p.S41F	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	41							binding			endometrium(2)|lung(7)|prostate(1)	10						GGAAGCAAATCCTCATTGTCA	0.388000														37			11		0	0	0.001368	0	0
FYCO1	79443	broad.mit.edu	37	3	46014622	46014622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:46014622G>A	uc011bal.1	-	4	609	c.497C>T	c.(496-498)tCg>tTg	p.S166L	FYCO1_uc003cpb.4_Missense_Mutation_p.S166L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	166	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.A165V(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AAAGCCCCTCGACGCCAGGTC	0.483000														29			30		0	0	0.002096	0	0
UNC5C	8633	broad.mit.edu	37	4	96256594	96256594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:96256594G>A	uc003hto.3	-	1	666	c.313C>T	c.(313-315)Cac>Tac	p.H105Y	UNC5C_uc010ilc.2_Missense_Mutation_p.H105Y|UNC5C_uc003htq.3_Missense_Mutation_p.H105Y	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	105	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTACTATGTGGTCCTTCTGA	0.408000														17			6		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9088841	9088841	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9088841G>C	uc002mkp.3	-	0	3178	c.2974C>G	c.(2974-2976)Ctc>Gtc	p.L992V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	992	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						GTAGCAGAGAGAGAAGTGGCA	0.473000														134			42		0	0	0.002522	0	0
STAB1	23166	broad.mit.edu	37	3	52529459	52529459	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52529459C>T	uc003dej.3	+	0	104	c.30C>T	c.(28-30)ctC>ctT	p.L10L	STAB1_uc003dei.1_Silent_p.L10L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	10					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTCCCACTCTGCCTCCTGG	0.692000														20			5		0	0	0.000602	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351359	40351359	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:40351359C>T	uc003gva.1	+	3	842	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	276					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGTGACCATCCTGTTGGCCAT	0.512000														53			64		0	0	0.003610	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762807	130762807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:130762807C>T	uc003qcb.3	+	1	3618	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	TMEM200A_uc003qca.3_Missense_Mutation_p.R414W|TMEM200A_uc010kfh.3_Missense_Mutation_p.R414W|TMEM200A_uc010kfi.3_Missense_Mutation_p.R414W|TMEM200A_uc021zfg.1_Missense_Mutation_p.R414W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	414						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGCAGAACAACGGAAACATCC	0.483000														11			38		0	0	0.006999	0	0
VARS	7407	broad.mit.edu	37	6	31748222	31748222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:31748222G>A	uc003nxe.3	-	24	3344	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	VARS_uc021yuy.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	974					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTTACCTGGGAGGTGGGTGA	0.592000														49			258		0	0	0.003610	0	0
OR2D3	120775	broad.mit.edu	37	11	6942899	6942899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:6942899C>T	uc010rav.2	+	0	667	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTGGTAATCCTCCTGGCCCC	0.473000														8			6		0	0	0.001168	0	0
NRP2	8828	broad.mit.edu	37	2	206656988	206656988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:206656988G>A	uc002vaw.3	+	15	3261	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R	NRP2_uc002vax.3_Missense_Mutation_p.G819R|NRP2_uc002vay.3_Intron	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	824					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGAGAGAGAAGGATATGAAGA	0.333000														49			21		0	0	0.003954	0	0
OR11G2	390439	broad.mit.edu	37	14	20666099	20666099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20666099C>T	uc010tlb.2	+	0	605	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCAACATCTCCCAAATGTCC	0.448000														37			15		0	0	0.003163	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045107	55045107	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55045107C>T	uc010yfa.1	+	2		c.333C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ACTGGCCTTTCCAACAACATC	0.507000														13			15		0	0	0.004007	0	0
SLC18A1	6570	broad.mit.edu	37	8	20030599	20030599	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:20030599C>T	uc011kyq.2	-	6	1143	c.672G>A	c.(670-672)gaG>gaA	p.E224E	SLC18A1_uc003wzm.3_Silent_p.E224E|SLC18A1_uc011kyr.2_Silent_p.E224E|SLC18A1_uc003wzn.3_Silent_p.E224E|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	224					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTCGTCCTCTCTCATGGTCAT	0.617000														0			8		0	0	0.006214	0	0
KRT78	196374	broad.mit.edu	37	12	53233725	53233725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:53233725C>T	uc001sbc.1	-	6	1155	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	364	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCCAGCTCCCCACGCTGCTC	0.617000														10			6		0	0	0.001168	0	0
XKR7	343702	broad.mit.edu	37	20	30584557	30584557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:30584557G>A	uc002wxe.3	+	2	1211	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	346						integral to membrane		p.G346G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTCATCCAAGGGGAGACGGAC	0.567000														36			41		0	0	0.006999	0	0
DSP	1832	broad.mit.edu	37	6	7585853	7585853	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:7585853G>A	uc003mxp.1	+	23	8637	c.8358G>A	c.(8356-8358)aaG>aaA	p.K2786K	DSP_uc003mxq.1_Silent_p.K2187K|DSP_uc021yle.1_Silent_p.K2343K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2786	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATCCTATAAGGATGCCATAA	0.522000														41			138		0	0	0.003610	0	0
SHB	6461	broad.mit.edu	37	9	37955905	37955905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:37955905G>A	uc004aax.3	-	3	1769	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	401	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGGACGGCAGGATCCACCCTT	0.572000														18			16		0	0	0.007413	0	0
TNN	63923	broad.mit.edu	37	1	175097242	175097242	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:175097242C>T	uc001gkl.1	+	13	3233	c.3120C>T	c.(3118-3120)tcC>tcT	p.S1040S		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1040	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCCTGTCTCCCTTGTTGCCT	0.532000														21			27		0	0	0.007291	0	0
PARP9	83666	broad.mit.edu	37	3	122271276	122271276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:122271276G>A	uc010hri.3	-	4	1346	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	PARP9_uc003eff.4_Missense_Mutation_p.P366S|PARP9_uc011bjs.2_Missense_Mutation_p.P366S|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.P366S|PARP9_uc003efh.3_Missense_Mutation_p.P401S|PARP9_uc003efj.2_Missense_Mutation_p.P366S	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	401	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGAGGTTTAGGAAATTCTGAA	0.318000														33			7		0	0	0.004482	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185268	127185268	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:127185268G>A	uc004eum.3	-	0	1115	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	306						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCCCAGGGAGGAGAGTGGTGC	0.498000														36			37		0	0	0.003755	0	0
NUP210	23225	broad.mit.edu	37	3	13417926	13417926	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:13417926G>A	uc003bxv.1	-	9	1241	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	NUP210_uc003bxx.3_Silent_p.I58I	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	386					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTTCAATTCGGATGTTCTGGA	0.542000														53			5		0	0	0.001168	0	0
HMBOX1	79618	broad.mit.edu	37	8	28876303	28876303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:28876303C>T	uc003xhd.4	+	5	1066	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	HMBOX1_uc010lvd.3_Missense_Mutation_p.P242S|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.P242S|HMBOX1_uc011lay.2_Missense_Mutation_p.P242S|HMBOX1_uc003xhg.3_Missense_Mutation_p.P230S|HMBOX1_uc003xhf.3_Missense_Mutation_p.P230S	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	242					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGACCAGCCCCCATTCCAAT	0.453000														36			6		0	0	0.001168	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657512	144657512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:144657512G>A	uc003yyo.4	-	10	1320	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	C8orf73_uc010mff.3_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yym.4_Missense_Mutation_p.S432F|NAPRT1_uc003yyn.4_Missense_Mutation_p.S432F|NAPRT1_uc011lkh.2_Missense_Mutation_p.S432F			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	432					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CATGAGTGGAGACCCTGTGTG	0.662000														27			38		0	0	0.006999	0	0
LOC649330	649330	broad.mit.edu	37	1	12907498	12907498	+	Silent	SNP	C	T	T	rs6702440		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12907498C>T	uc010obf.2	-	1	871	c.645G>A	c.(643-645)gtG>gtA	p.V215V	LOC649330_uc009vno.2_Silent_p.V215V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	215							nucleic acid binding|nucleotide binding										TAGCATTTTTCACCTCTACCT	0.448000														29			38		0	0	0.003610	0	0
UBQLN1	29979	broad.mit.edu	37	9	86281332	86281332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:86281332G>A	uc004amv.3	-	7	1839	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	UBQLN1_uc004amw.3_Intron	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	422					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGCAAATAGGGGATTATTCAG	0.383000														5			30		0	0	0.002445	0	0
ILDR1	286676	broad.mit.edu	37	3	121712464	121712464	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:121712464G>A	uc003ees.3	-	6	1335	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	ILDR1_uc003eeq.3_Nonsense_Mutation_p.Q346*|ILDR1_uc003eer.3_Nonsense_Mutation_p.Q334*|ILDR1_uc010hrg.3_Nonsense_Mutation_p.Q289*	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	378						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGAGCTCCTGGTGGAAATCA	0.602000														31			33		0	0	0.004289	0	0
GGT7	2686	broad.mit.edu	37	20	33451191	33451191	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:33451191G>A	uc002xay.3	-	1	373	c.330C>T	c.(328-330)atC>atT	p.I110I	GGT7_uc002xaz.1_Silent_p.I127I|GGT7_uc002xba.1_Silent_p.I110I	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	110					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGCCGTGACGATGACCGTGA	0.677000														32			22		0	0	0.003954	0	0
LOC646214	646214	broad.mit.edu	37	15	21937005	21937005	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:21937005C>T	uc010tzj.1	-	0		c.3735G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCCTTCCATTCCCAAAAGTAC	0.473000														109			33		0	0	0.001786	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517377	140517377	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140517377C>T	uc003liq.3	+	0	2578	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTGCTGCCTTCCGGAATA	0.468000														48			67		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126400924	126400924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126400924C>T	uc003ifj.4	+	13	12502	c.12502C>T	c.(12502-12504)Cgc>Tgc	p.R4168C	FAT4_uc011cgp.2_Intron|FAT4_uc003ifi.1_Missense_Mutation_p.R1646C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4168	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4168R(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCTTGTACTCGCAGCCCATG	0.418000														15			9		0	0	0.006214	0	0
ZEB1	6935	broad.mit.edu	37	10	31810494	31810494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:31810494G>A	uc001ivs.4	+	6	2294	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	ZEB1_uc001ivr.4_Missense_Mutation_p.G526E|ZEB1_uc010qef.2_Missense_Mutation_p.G526E|ZEB1_uc009xlj.1_Missense_Mutation_p.G670E|ZEB1_uc010qeg.1_Missense_Mutation_p.G603E|ZEB1_uc009xlk.1_Missense_Mutation_p.G526E|ZEB1_uc001ivu.4_Missense_Mutation_p.G745E|ZEB1_uc010qeh.2_Missense_Mutation_p.G677E|ZEB1_uc001ivv.4_Missense_Mutation_p.G724E|ZEB1_uc001ivt.4_Missense_Mutation_p.G526E|ZEB1_uc009xlo.2_Missense_Mutation_p.G727E|ZEB1_uc009xlp.3_Missense_Mutation_p.G728E	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	744					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGCAACAGGGAGAATTATTA	0.428000														15			16		0	0	0.004990	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312858	120312858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120312858G>A	uc001pxl.2	+	14	1584	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	ARHGEF12_uc009zat.3_Missense_Mutation_p.E398K|ARHGEF12_uc010rzn.1_Missense_Mutation_p.E314K|ARHGEF12_uc009zau.1_Missense_Mutation_p.E314K|ARHGEF12_uc021qrm.1_Missense_Mutation_p.E398K	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	417	RGSL.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAATTCCAAAGAAACTCGTCG	0.358000			T	MLL	AML									11			6		0	0	0.001984	0	0
NLGN3	54413	broad.mit.edu	37	X	70375108	70375108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:70375108G>A	uc004dzd.2	+	4	956	c.622G>A	c.(622-624)Gga>Aga	p.G208R	NLGN3_uc004dzb.3_Missense_Mutation_p.G188R|NLGN3_uc011mps.2_Missense_Mutation_p.G168R|NLGN3_uc004dzc.3_Missense_Mutation_p.G71R|NLGN3_uc004dze.3_Missense_Mutation_p.G6R|NLGN3_uc011mpr.1_Missense_Mutation_p.G168R	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	208					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTACATCCACGGAGGCTCTTA	0.562000														23			29		0	0	0.002096	0	0
RAB39B	116442	broad.mit.edu	37	X	154493472	154493472	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154493472G>A	uc004fne.3	-	0	381	c.102C>T	c.(100-102)gcC>gcT	p.A34A		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	34					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGAAACCTGGGCAAAGCGAC	0.597000														80			27		0	0	0.007291	0	0
MAP4	4134	broad.mit.edu	37	3	47957454	47957454	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:47957454G>A	uc003csb.2	-	6	2389	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	MAP4_uc003csc.3_Silent_p.F621F|MAP4_uc011bbf.1_Silent_p.F598F|MAP4_uc003csf.3_Silent_p.F638F	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	621					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTGAAATCATGAAAGTAGGTG	0.418000														33			71		0	0	0.003610	0	0
ZNF556	80032	broad.mit.edu	37	19	2877858	2877858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:2877858C>T	uc002lwp.1	+	3	989	c.902C>T	c.(901-903)tCc>tTc	p.S301F	ZNF556_uc002lwq.3_Missense_Mutation_p.S300F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCAACATCCTTTCAACGA	0.507000														29			11		0	0	0.000978	0	0
RBBP5	5929	broad.mit.edu	37	1	205065952	205065953	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:205065952_205065953GG>AA	uc010prd.2	-	10	1639_1640	c.1358_1359CC>TT	c.(1357-1359)ccc>cTT	p.P453L	RBBP5_uc010pre.2_Missense_Mutation_p.P291L|RBBP5_uc001hbu.2_Missense_Mutation_p.P418L|RBBP5_uc001hbv.2_Missense_Mutation_p.P418L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	418					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CATCCGGTGGGGGGCCGTAAGG	0.505000														49			71		0	0	0.004672	0	0
DNAJB12	54788	broad.mit.edu	37	10	74096350	74096350	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:74096350A>T	uc001jsz.2	-	6	1190	c.1040T>A	c.(1039-1041)gTc>gAc	p.V347D	DNAJB12_uc001jta.2_Missense_Mutation_p.V347D|DNAJB12_uc010qjv.1_Missense_Mutation_p.V347D	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	313					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ATTCCGCTCGACTGTTTTGAG	0.552000														107			12		0	0	0.002450	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249233	20249233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:20249233C>T	uc001bct.1	-	1	114	c.56G>A	c.(55-57)gGg>gAg	p.G19E		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	19					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.T18T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGTTCCCGGTGACCAG	0.592000														40			9		0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179427023	179427023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179427023C>T	uc021vsy.1	-	274	76357	c.76132G>A	c.(76132-76134)Gat>Aat	p.D25378N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D19073N|TTN_uc021vta.1_Missense_Mutation_p.D19006N|TTN_uc021vtb.1_Missense_Mutation_p.D18881N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26305	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTGGATCACTTCTTCCC	0.413000														19			13		0	0	0.001368	0	0
TRPC4	7223	broad.mit.edu	37	13	38320265	38320265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:38320265C>T	uc010abx.3	-	2	941	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E236K|TRPC4_uc001uws.3_Missense_Mutation_p.E236K|TRPC4_uc010tey.2_Missense_Mutation_p.E236K|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.E236K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	236					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GACTTGAATTCATTTTCCACC	0.458000														24			16		0	0	0.006122	0	0
KLK5	25818	broad.mit.edu	37	19	51447000	51447000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51447000C>T	uc002pue.3	-	6	987	c.769G>A	c.(769-771)Gga>Aga	p.G257R	KLK5_uc002puf.3_Missense_Mutation_p.G257R|KLK5_uc002pug.3_Missense_Mutation_p.G257R	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	257	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GACACGAGTCCCTGCAGGGAG	0.592000														40			10		0	0	0.001368	0	0
TMCC3	57458	broad.mit.edu	37	12	94976115	94976115	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:94976115A>T	uc001tdj.2	-	1	396	c.278T>A	c.(277-279)gTt>gAt	p.V93D	TMCC3_uc001tdi.2_Missense_Mutation_p.V62D	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	93						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATACTCCGCAACATTCCCATC	0.448000														16			79		0	0	0.003610	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086634	31086634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:31086634C>T	uc009yjk.1	-	6	778	c.709G>A	c.(709-711)Gag>Aag	p.E237K	DCDC5_uc009yjl.1_Missense_Mutation_p.E165K|DCDC5_uc001msu.2_Missense_Mutation_p.E408K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	280					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ATGTGATACTCTGTCTGGGTC	0.453000														10			8		0	0	0.003080	0	0
C4orf40	401137	broad.mit.edu	37	4	71024129	71024129	+	Missense_Mutation	SNP	C	T	T	rs147899116	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:71024129C>T	uc003hfa.4	+	3	233	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	C4orf40_uc003hfb.4_Missense_Mutation_p.R54C	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	54						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCTTTATTATCGCCCAGTGAA	0.443000														85			47		0	0	0.003610	0	0
OR13A1	79290	broad.mit.edu	37	10	45798888	45798888	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:45798888T>A	uc001jcc.1	-	3	1292	c.983A>T	c.(982-984)aAt>aTt	p.N328I	OR13A1_uc001jcd.1_Missense_Mutation_p.N324I|OR13A1_uc021ppq.1_Missense_Mutation_p.N328I	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CACAAGTTAATTTCTGAAGAA	0.433000														22			49		0	0	0.003610	0	0
C9orf135	138255	broad.mit.edu	37	9	72471545	72471545	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:72471545G>A	uc004ahl.3	+	2	401	c.336G>A	c.(334-336)aaG>aaA	p.K112K	C9orf135_uc011lrw.2_Silent_p.K4K|C9orf135_uc010moq.3_Silent_p.K4K|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Silent_p.K112K	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	112						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TGAAGAGCAAGGCTTTATTGA	0.358000														4			20		0	0	0.002299	0	0
TRPS1	7227	broad.mit.edu	37	8	116616963	116616963	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:116616963C>T	uc003yny.3	-	3	1811	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	TRPS1_uc011lhy.2_Silent_p.Q402Q|TRPS1_uc003ynz.3_Silent_p.Q398Q|TRPS1_uc010mcy.3_Silent_p.Q398Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	398					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P410P(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTATCTTGTCCTGCCATTTTC	0.483000									Langer-Giedion syndrome					11			8		0	0	0.004482	0	0
CCDC141	285025	broad.mit.edu	37	2	179714835	179714835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179714835C>T	uc002une.2	-	20	3416	c.3298G>A	c.(3298-3300)Gtt>Att	p.V1100I	CCDC141_uc002unf.1_Missense_Mutation_p.V579I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	525							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATTCAAGAACCTCTTTGTGT	0.348000														34			11		0	0	0.001855	0	0
PDDC1	347862	broad.mit.edu	37	11	774016	774016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:774016G>A	uc001lrd.3	-	2	264	c.239C>T	c.(238-240)tCc>tTc	p.S80F	PDDC1_uc001lrc.3_Missense_Mutation_p.S80F|PDDC1_uc010qwm.2_Missense_Mutation_p.S30F|PDDC1_uc001lrf.1_Missense_Mutation_p.S80F|PDDC1_uc001lrg.1_Non-coding_Transcript|PDDC1_uc009ycg.3_Missense_Mutation_p.S30F|PDDC1_uc021qbo.1_Missense_Mutation_p.S30F|PDDC1_uc010qwn.1_Non-coding_Transcript|PDDC1_uc010qwo.1_Non-coding_Transcript|PDDC1_uc010qwp.1_Missense_Mutation_p.S80F|PDDC1_uc010qwq.1_Missense_Mutation_p.S30F|PDDC1_uc010qwr.1_Missense_Mutation_p.S80F|PDDC1_uc010qws.1_Missense_Mutation_p.S30F	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Homo sapiens Parkinson disease 7 domain containing 1 (PDDC1), mRNA.	80						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCATCGATGGACTCGAGCTT	0.602000														29			7		0	0	0.001984	0	0
MIR622	693207	broad.mit.edu	37	13	90883465	90883465	+	RNA	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:90883465A>G	uc021rld.1	+	0		c.30A>G								Homo sapiens microRNA 622 (MIR622), microRNA.																		TGGTCTCAGCAGATTGAGGAG	0.532000														18			11		0	0	0.001855	0	0
KLHL13	90293	broad.mit.edu	37	X	117043419	117043419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:117043419C>T	uc011mtp.2	-	5	1353	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	KLHL13_uc004eqk.3_Missense_Mutation_p.G353E|KLHL13_uc004eql.3_Missense_Mutation_p.G404E|KLHL13_uc011mtn.2_Missense_Mutation_p.G244E|KLHL13_uc011mto.2_Missense_Mutation_p.G398E|KLHL13_uc011mtq.2_Missense_Mutation_p.G388E|KLHL13_uc004eqm.3_Missense_Mutation_p.G362E|KLHL13_uc022cde.1_Missense_Mutation_p.G388E	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	404					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G404E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCGTTTTTCCTTTTGTATC	0.433000														15			28		0	0	0.004656	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431116	140431116	+	Silent	SNP	C	T	T	rs75402992		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140431116C>T	uc003lik.1	+	0	138	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCATTTTTCTGTGCATATC	0.512000														23			19		0	0	0.001216	0	0
DSG4	147409	broad.mit.edu	37	18	28992947	28992947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28992947C>T	uc002kwr.2	+	14	2704	c.2569C>T	c.(2569-2571)Cca>Tca	p.P857S	DSG4_uc002kwq.2_Missense_Mutation_p.P838S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	838					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P856H(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACTTTAGATCCAAAATTTAG	0.438000														14			27		0	0	0.005443	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775725	70775725	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:70775725C>T	uc001joy.3	+	6	1531	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	473					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ACAGACAGATCCAGTTTGAAA	0.413000														12			9		0	0	0.004482	0	0
GDF3	9573	broad.mit.edu	37	12	7843051	7843051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:7843051G>A	uc001qte.3	-	1	554	c.518C>T	c.(517-519)cCa>cTa	p.P173L		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	173					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTGTGGCCATGGGACTGACCG	0.527000														13			49		0	0	0.003610	0	0
PELP1	27043	broad.mit.edu	37	17	4578163	4578163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:4578163C>T	uc002fyi.4	-	11	1589	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	PELP1_uc010vsf.2_Missense_Mutation_p.G308R	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	455					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGCCTCTCCAGAGGCTCCT	0.612000														8			53		0	0	0.003610	0	0
ARL13A	392509	broad.mit.edu	37	X	100242503	100242503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:100242503C>T	uc004ego.3	+	5	727	c.611C>T	c.(610-612)tCc>tTc	p.S204F	ARL13A_uc011mrf.2_Missense_Mutation_p.S204F|ARL13A_uc010nng.3_Missense_Mutation_p.S204F	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	204							GTP binding			endometrium(1)|ovary(1)	2						ATCTCAATCTCCAAGAATAAC	0.458000														44			14		0	0	0.004990	0	0
PTPRU	10076	broad.mit.edu	37	1	29639145	29639145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:29639145G>A	uc001bru.3	+	22	3313	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	PTPRU_uc009vtq.3_Missense_Mutation_p.G1058R|PTPRU_uc009vtr.3_Missense_Mutation_p.G1049R|PTPRU_uc001brw.3_Missense_Mutation_p.G1052R	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1062	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATGCCACGGGGCTGCTGGC	0.647000														19			8		0	0	0.003080	0	0
TRPC3	7222	broad.mit.edu	37	4	122854038	122854038	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:122854038G>A	uc003ieg.2	-	1	449	c.375C>T	c.(373-375)atC>atT	p.I125I	TRPC3_uc010inr.2_Silent_p.I52I|TRPC3_uc003ief.2_Silent_p.I52I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	40					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCACCACTGGGATGTTGCCGT	0.652000														29			10		0	0	0.000978	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103885	55103885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55103885G>A	uc004due.3	+	3	299	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PAGE2B_uc022bxk.1_Missense_Mutation_p.E83K	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.	83										lung(3)	3						GATAGAGGATGAGCCTGGAGA	0.403000														28			28		0	0	0.003271	0	0
TNN	63923	broad.mit.edu	37	1	175049339	175049339	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:175049339G>A	uc001gkl.1	+	3	938	c.825G>A	c.(823-825)gaG>gaA	p.E275E	TNN_uc010pmx.1_Silent_p.E275E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	275	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T274K(1)		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)		AGAACACGGAGGATTCTCTGC	0.612000														38			21		0	0	0.002299	0	0
MUC5B	727897	broad.mit.edu	37	11	1269230	1269230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1269230G>A	uc001lta.3	+	30	11179	c.11120G>A	c.(11119-11121)gGa>gAa	p.G3707E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3707	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGTCCACTGGATCCACGGCC	0.662000														46			36		0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451032	138451032	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:138451032C>T	uc003ihe.4	-	0	2598	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	PCDH18_uc003ihf.4_Silent_p.R730R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R517R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	737					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R737M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTCGGCCACCCTGCAGTTAT	0.478000														24			22		0	0	0.002299	0	0
ZNF318	24149	broad.mit.edu	37	6	43322940	43322940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:43322940G>A	uc003oux.3	-	3	2210	c.2132C>T	c.(2131-2133)cCa>cTa	p.P711L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	711					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTAGGAATGGAGGGCTGTT	0.512000														25			19		0	0	0.007413	0	0
CNR1	1268	broad.mit.edu	37	6	88853950	88853950	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:88853950G>A	uc010kbz.3	-	1	1174	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CNR1_uc011dzr.2_Silent_p.I348I|CNR1_uc011dzs.2_Silent_p.I348I|CNR1_uc003pmq.4_Silent_p.I348I|CNR1_uc011dzt.2_Silent_p.I348I|CNR1_uc010kca.3_Silent_p.I315I|CNR1_uc021zco.1_Silent_p.I348I	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	348					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACACCACCAGGATCAGGACCA	0.517000														18			85		0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552726	173552726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:173552726C>T	uc001giz.2	-	5	982	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	187					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATCAATGATTCTCCTCTAATG	0.318000														28			29		0	0	0.002096	0	0
TICAM1	148022	broad.mit.edu	37	19	4817010	4817010	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4817010G>A	uc002mbi.3	-	1	1631	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	TICAM1_uc021unj.1_Silent_p.F460F	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	460	TIR.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.F460F(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCGACAGTCGAAGTTGGAGG	0.607000														56			15		0	0	0.007413	0	0
MS4A8B	83661	broad.mit.edu	37	11	60470895	60470895	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:60470895C>T	uc001npv.3	+	2	467	c.264C>T	c.(262-264)tcC>tcT	p.S88S	MS4A8B_uc009yne.1_Silent_p.S88S	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	88						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCCTCGGCTCCATCATGGCGA	0.562000														25			14		0	0	0.003163	0	0
VAT1	10493	broad.mit.edu	37	17	41174026	41174026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:41174026G>A	uc002icm.1	-	0	434	c.314C>T	c.(313-315)cCt>cTt	p.P105L	VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_Intron	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	105						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACAGGCAGAGGCGGGAGACG	0.706000														1			23		0	0	0.001882	0	0
OR1I1	126370	broad.mit.edu	37	19	15198767	15198767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15198767G>A	uc010xoe.2	+	0	891	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ACAAGGATATGAAGGCAGCCC	0.547000														20			21		0	0	0.002299	0	0
RNF182	221687	broad.mit.edu	37	6	13978059	13978059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:13978059C>T	uc021ylw.1	+	2	1202	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	RNF182_uc021ylx.1_Missense_Mutation_p.H237Y|RNF182_uc003nbe.3_Missense_Mutation_p.H237Y|RNF182_uc003nbf.3_Missense_Mutation_p.H237Y|RNF182_uc003nbg.3_Missense_Mutation_p.H237Y|RNF182_uc021yly.1_Missense_Mutation_p.H237Y	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	237						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTGTTTGTCATGAATTTCT	0.413000														15			69		0	0	0.003610	0	0
NPHS1	4868	broad.mit.edu	37	19	36322271	36322271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36322271G>A	uc002oby.3	-	25	3470	c.3314C>T	c.(3313-3315)tCg>tTg	p.S1105L	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1105					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCTCTTCCGACCTTCCAGG	0.597000														28			46		0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29608082	29608082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:29608082C>T	uc001usl.4	+	1	2354	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	756	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTATGAAGTCCCTCCAACTTT	0.448000														16			5		0	0	0.001168	0	0
COBL	23242	broad.mit.edu	37	7	51096928	51096928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:51096928C>T	uc003tps.3	-	10	2221	c.2036G>A	c.(2035-2037)gGg>gAg	p.G679E	COBL_uc003tpr.4_Missense_Mutation_p.G622E|COBL_uc011kcl.2_Missense_Mutation_p.G622E|COBL_uc003tpp.4_Missense_Mutation_p.G408E|COBL_uc003tpq.4_Missense_Mutation_p.G563E|COBL_uc003tpo.4_Missense_Mutation_p.G164E	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	622										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATTAGATTCCCATCTTTAGA	0.488000														77			20		0	0	0.001523	0	0
SPATA18	132671	broad.mit.edu	37	4	52945987	52945987	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:52945987C>T	uc003gzl.3	+	8	1535	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.F387F|SPATA18_uc003gzk.1_Silent_p.F419F	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	419					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAGTGACTTCATCCAGGAGA	0.428000														80			26		0	0	0.003954	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646002	24646002	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:24646002G>A	uc002wtw.1	+	3	1272	c.639G>A	c.(637-639)aaG>aaA	p.K213K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	213					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCGTGGCCAAGGGGGACTTGC	0.592000														137			115		0	0	0.003610	0	0
TMEM130	222865	broad.mit.edu	37	7	98449090	98449090	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98449090G>A	uc003upo.3	-	5	1149	c.960C>T	c.(958-960)atC>atT	p.I320I	TMEM130_uc011kiq.2_Silent_p.I301I|TMEM130_uc011kir.2_Silent_p.I320I|TMEM130_uc003upn.3_Silent_p.I218I	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	320						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTGCTGATGATATTCTCGG	0.592000														70			13		0	0	0.001855	0	0
IQCF3	401067	broad.mit.edu	37	3	51864696	51864696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:51864696C>T	uc021wyy.1	+	6	1132	c.344C>T	c.(343-345)gCt>gTt	p.A115V	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.A115V	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	115	IQ.							p.A115V(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCAATGCTCTCTGCTTG	0.547000														50			20		0	0	0.002299	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519789	111519789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:111519789C>T	uc003kpv.1	-	17	1820	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	EPB41L4A_uc003kpp.1_Missense_Mutation_p.E143K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	516						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.W515L(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATACAGCTTCCCACTGAGGC	0.448000														16			14		0	0	0.003163	0	0
HTT	3064	broad.mit.edu	37	4	3149759	3149759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:3149759C>T	uc021xkv.1	+	25	3468	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1108					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGAGAAGTTCATGGGCCTCT	0.577000														16			18		0	0	0.001216	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3235706C>T	uc004crg.4	-	5	6173	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2006	Ig-like C2-type 4.					extracellular region		p.H2005H(1)		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)				GTCCGGTTTTCGTGCAGGGTG	0.622000														24			30		0	0	0.002445	0	0
LIG3	3980	broad.mit.edu	37	17	33310059	33310059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:33310059C>T	uc002hik.2	+	1	164	c.35C>T	c.(34-36)aCc>aTc	p.T12I	LIG3_uc002hii.3_Missense_Mutation_p.T12I|LIG3_uc002hij.3_Missense_Mutation_p.T12I|LIG3_uc010cth.1_Missense_Mutation_p.T21I	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	12					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTTCCACAAACCCTCCGTGCA	0.413000								Other BER factors						8			41		0	0	0.002522	0	0
SETD1A	9739	broad.mit.edu	37	16	30977225	30977225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30977225G>A	uc002ead.1	+	7	2709	c.2023G>A	c.(2023-2025)Ggg>Agg	p.G675R		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCAGTGGGGAGGGATGCCCAT	0.632000														107			43		0	0	0.002522	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954490	35954490	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:35954490G>A	uc003jjv.2	-	6	1579	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	462						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTCTGGAGGATGTGGTCGA	0.612000														16			18		0	0	0.004990	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701516	48701516	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:48701516G>A	uc001crn.2	+	10	1384	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.R419R|SLC5A9_uc010omt.1_Silent_p.R433R|SLC5A9_uc001crp.2_Silent_p.R86R|SLC5A9_uc010omu.1_Silent_p.R86R	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	419						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCTTCCGCAGGAAGTCAACAG	0.612000														36			13		0	0	0.002450	0	0
TRIML2	205860	broad.mit.edu	37	4	189022258	189022258	+	Silent	SNP	C	T	T	rs141580546	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:189022258C>T	uc011cle.1	-	2	654	c.432G>A	c.(430-432)gcG>gcA	p.A144A	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.A94A|TRIML2_uc011clf.1_Silent_p.A144A	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	94							ligase activity	p.E143*(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTTGATCGCTTGATTCA	0.433000														19			20		0	0	0.001216	0	0
OTOL1	131149	broad.mit.edu	37	3	161221723	161221723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:161221723C>T	uc011bpb.2	+	3	1427	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	476						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTGGAATTTCACCATAAATT	0.373000														5			14		0	0	0.002450	0	0
TCHH	7062	broad.mit.edu	37	1	152086483	152086483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152086483C>T	uc009wne.1	-	1	346	c.74G>A	c.(73-75)gGa>gAa	p.G25E	TCHH_uc001ezp.2_Missense_Mutation_p.G25E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	25	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGCTGCTCCATCACAATC	0.378000														26			38		0	0	0.006230	0	0
PLCB4	5332	broad.mit.edu	37	20	9416266	9416266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:9416266G>A	uc021wam.1	+	24	2563	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	PLCB4_uc010gbw.1_Missense_Mutation_p.D850N|PLCB4_uc010gbx.3_Missense_Mutation_p.D862N|PLCB4_uc021wal.1_Missense_Mutation_p.D850N|PLCB4_uc002wnh.3_Missense_Mutation_p.D697N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	850					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAGAGAGCAGACCAAATGAG	0.368000														74			41		0	0	0.001951	0	0
C6	729	broad.mit.edu	37	5	41176678	41176678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41176678C>T	uc003jmk.2	-	7	1277	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	C6_uc003jml.1_Missense_Mutation_p.R356Q|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	356	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCGAATATTCGGCTGTACAA	0.423000														23			12		0	0	0.002450	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129151	26129151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:26129151G>A	uc001uqk.3	+	12	1350	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	ATP8A2_uc010tdi.2_Missense_Mutation_p.G363E|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.G363E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	363					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)		TATTATATAGGAAATGACACT	0.403000														52			15		0	0	0.004990	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318927	21318927	+	Silent	SNP	C	T	T	rs142326096		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:21318927C>T	uc021tss.1	+	2	643	c.273C>T	c.(271-273)ttC>ttT	p.F91F	KCNJ18_uc002gyv.1_Silent_p.F91F|KCNJ18_uc021tst.1_Silent_p.F91F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	91						integral to membrane	inward rectifier potassium channel activity										CGCTGGCCTTCCTTGCCTCCT	0.622000														23			12		0	0	0.001855	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416266	1416266	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1416266G>A	uc003jck.3	-	6	1104	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	326					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCAGCACCCCGAACCCCACGC	0.622000														22			31		0	0	0.003755	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028097	45028097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45028097C>T	uc010ejn.1	-	2	410	c.394G>A	c.(394-396)Gac>Aac	p.D132N	CEACAM20_uc010ejo.1_Missense_Mutation_p.D132N|CEACAM20_uc010ejp.1_Missense_Mutation_p.D132N|CEACAM20_uc010ejq.1_Missense_Mutation_p.D132N	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	132	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTCCCTGAGTCCTCCCGCTGG	0.537000														289			69		0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79030492	79030492	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:79030492C>T	uc003kgc.3	+	1	5976	c.5904C>T	c.(5902-5904)tcC>tcT	p.S1968S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1968						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGATACTTCCAGTGGTAATA	0.413000														31			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179398792	179398792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179398792C>T	uc021vsy.1	-	306	95071	c.94846G>A	c.(94846-94848)Gaa>Aaa	p.E31616K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25311K|TTN_uc021vta.1_Missense_Mutation_p.E25244K|TTN_uc021vtb.1_Missense_Mutation_p.E25119K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32543							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25311K(1)|p.E31614K(1)|p.E25119K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGATTTCGTATTTCTCA	0.403000														29			30		0	0	0.001786	0	0
USP26	83844	broad.mit.edu	37	X	132161988	132161988	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:132161988G>A	uc011mvf.2	-	0	313	c.261C>T	c.(259-261)tcC>tcT	p.S87S	USP26_uc010nrm.1_Silent_p.S87S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	87					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CATCTGTGGAGGATAATCCTT	0.363000														6			13		0	0	0.001368	0	0
RERGL	79785	broad.mit.edu	37	12	18234201	18234201	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:18234201T>A	uc001rdq.3	-	5	736	c.542A>T	c.(541-543)aAg>aTg	p.K181M		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	181	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGGACGTCTCTTTTCTTTGAG	0.383000														14			11		0	0	0.000673	0	0
PPARA	5465	broad.mit.edu	37	22	46614211	46614211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:46614211C>T	uc003bhb.1	+	3	544	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PPARA_uc003bgw.1_Missense_Mutation_p.R141C|PPARA_uc003bgx.1_Missense_Mutation_p.R141C|PPARA_uc010hab.1_Missense_Mutation_p.R141C|PPARA_uc003bha.3_Missense_Mutation_p.R141C|PPARA_uc010hac.1_Silent_p.T5T	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	141					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAGTGCGACCGCAGCTGCAA	0.483000														24			76		0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8678349	8678349	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:8678349G>A	uc002wnb.3	+	10	1089	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	PLCB1_uc010zrb.1_Silent_p.L261L|PLCB1_uc002wna.3_Silent_p.L362L|PLCB1_uc002wnc.1_Silent_p.L261L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	362	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGTGGAGCTGGACTGCTGGA	0.473000														79			62		0	0	0.003610	0	0
MGAT3	4248	broad.mit.edu	37	22	39884193	39884193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:39884193G>A	uc003axv.4	+	1	1080	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	MGAT3_uc010gxy.3_Missense_Mutation_p.G281S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	281					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCGCCCGGCGGCCGGCAGGA	0.667000														57			89		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28968867	28968867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28968867G>A	uc002kwr.2	+	4	538	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	DSG4_uc002kwq.2_Missense_Mutation_p.E135K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	135	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCACGGGGTGAAGATTTAGA	0.388000														6			27		0	0	0.007291	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793541	100793541	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:100793541G>T	uc001yhc.3	+	3	234	c.161G>T	c.(160-162)cGg>cTg	p.R54L	SLC25A47_uc001yhd.3_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	54					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTTCTACCGGGGCCTCTCG	0.677000														154			6		0.00307968	0.00401287	0.003080	1	0
FAM115A	9747	broad.mit.edu	37	7	143573547	143573547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143573547G>A	uc003wdo.2	-	1	288	c.155C>T	c.(154-156)tCc>tTc	p.S52F	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.S52F	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	52										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GCCATAGGAGGAGGCAGCAAT	0.562000														23			29		0	0	0.001512	0	0
PDE11A	50940	broad.mit.edu	37	2	178879178	178879178	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:178879178A>G	uc002ulq.3	-	1	1240	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	PDE11A_uc002ulr.3_Missense_Mutation_p.F58L|PDE11A_uc002ult.1_Missense_Mutation_p.F58L	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	308	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCATCATTGAATCGTCGATCC	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial					13			11		0	0	0.001855	0	0
GCNT1	2650	broad.mit.edu	37	9	79117361	79117361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:79117361C>T	uc022bif.1	+	0	64	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	GCNT1_uc010mpf.3_Missense_Mutation_p.L22F|GCNT1_uc010mpg.3_Missense_Mutation_p.L22F|GCNT1_uc010mph.3_Missense_Mutation_p.L22F|GCNT1_uc004akf.4_Missense_Mutation_p.L22F|GCNT1_uc010mpi.3_Missense_Mutation_p.L22F|GCNT1_uc004akh.4_Missense_Mutation_p.L22F	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	22					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTTTATGGTTCTTGTTTTATC	0.408000														14			30		0	0	0.002445	0	0
OR51M1	390059	broad.mit.edu	37	11	5410985	5410985	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5410985T>G	uc010qzc.2	+	0	379	c.357T>G	c.(355-357)ttT>ttG	p.F119L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	119						integral to membrane	olfactory receptor activity	p.S118F(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACTCTTTTTCCTTCATGG	0.502000														68			40		0	0	0.006230	0	0
PKD1	5310	broad.mit.edu	37	16	2160599	2160599	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2160599G>A	uc002cos.1	-	14	4778	c.4569C>T	c.(4567-4569)ttC>ttT	p.F1523F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.F1523F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1523	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCTAACGGTGAAGTCACCTG	0.677000														55			25		0	0	0.002780	0	0
FAM83E	54854	broad.mit.edu	37	19	49107059	49107059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:49107059G>A	uc002pjn.2	-	3	933	c.868C>T	c.(868-870)Ccg>Tcg	p.P290S	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	290										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTGGGAGCGGGCAGGAGGCC	0.711000														16			26		0	0	0.004656	0	0
DMD	1756	broad.mit.edu	37	X	32472947	32472947	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:32472947G>A	uc004dda.1	-	25	3679	c.3435C>T	c.(3433-3435)gtC>gtT	p.V1145V	DMD_uc004dcz.2_Silent_p.V1022V|DMD_uc004dcy.1_Silent_p.V1141V|DMD_uc004ddb.1_Silent_p.V1137V|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1145					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTGGCATAGACCTTCCACA	0.363000														15			4		0	0	0.000602	0	0
VEGFC	7424	broad.mit.edu	37	4	177608491	177608491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:177608491C>T	uc003ius.1	-	5	1425	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	332	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ATCAAATTCTCGGTTGGCCCC	0.468000														61			74		0	0	0.003610	0	0
TBX15	6913	broad.mit.edu	37	1	119427608	119427608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:119427608C>T	uc001ehl.1	-	7	1553	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TBX15_uc009whj.1_Missense_Mutation_p.G237E	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	519						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAATTGTATCCATACAGGTT	0.537000														5			11		0	0	0.000978	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678508	48678508	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:48678508G>A	uc002irk.1	+	18	4260	c.3888G>A	c.(3886-3888)gaG>gaA	p.E1296E	CACNA1G_uc002iri.1_Silent_p.E1296E|CACNA1G_uc002irj.1_Silent_p.E1273E|CACNA1G_uc002irl.1_Silent_p.E1273E|CACNA1G_uc002irm.1_Silent_p.E1273E|CACNA1G_uc002irn.1_Silent_p.E1273E|CACNA1G_uc002iro.1_Silent_p.E1273E|CACNA1G_uc002irp.1_Silent_p.E1296E|CACNA1G_uc002irq.1_Silent_p.E1273E|CACNA1G_uc002irr.1_Silent_p.E1296E|CACNA1G_uc002irs.1_Silent_p.E1296E|CACNA1G_uc002irt.1_Silent_p.E1296E|CACNA1G_uc002iru.1_Silent_p.E1273E|CACNA1G_uc002irv.1_Silent_p.E1296E|CACNA1G_uc002irw.1_Silent_p.E1273E|CACNA1G_uc002irx.1_Silent_p.E1209E|CACNA1G_uc002iry.1_Silent_p.E1209E|CACNA1G_uc002isg.1_Silent_p.E1209E|CACNA1G_uc002ish.1_Silent_p.E1209E|CACNA1G_uc002isi.1_Silent_p.E1186E|CACNA1G_uc002irz.1_Silent_p.E1209E|CACNA1G_uc002isa.1_Silent_p.E1209E|CACNA1G_uc002isd.1_Silent_p.E1209E|CACNA1G_uc002isb.1_Silent_p.E1209E|CACNA1G_uc002isc.1_Silent_p.E1209E|CACNA1G_uc002ise.1_Silent_p.E1209E|CACNA1G_uc002isf.1_Silent_p.E1209E|CACNA1G_uc002isj.3_Silent_p.E20E	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1296					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGCCATGGAGCGCCCCAAAA	0.592000														10			70		0	0	0.003610	0	0
GBF1	8729	broad.mit.edu	37	10	104130601	104130601	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:104130601A>T	uc001kux.2	+	28	3935	c.3641A>T	c.(3640-3642)gAa>gTa	p.E1214V	GBF1_uc001kuy.2_Missense_Mutation_p.E1214V|GBF1_uc001kuz.2_Missense_Mutation_p.E1215V	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1214					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCCGGAGAGAAGAGATCAGT	0.517000														17			5		0	0	0.000602	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590830	234590830	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:234590830C>T	uc002vut.3	+	0	247	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Silent_p.L83L	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	85			F -> L (in GILBS; displays less than 10% of wild-type bilirubin glucuronidation activity; dbSNP:rs56059937).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTCATACACTCTGGAGGATCA	0.498000														54			52		0	0	0.003610	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442103	145442103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:145442103G>A	uc003lnt.3	+	9	2267	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	SH3RF2_uc011dbl.1_Missense_Mutation_p.E677K|SH3RF2_uc003lnu.3_Missense_Mutation_p.E168K|SH3RF2_uc011dbn.1_Missense_Mutation_p.E168K|SH3RF2_uc011dbo.2_Missense_Mutation_p.E134K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	677							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCCAGCCTGAAGCAGCGTC	0.587000														19			24		0	0	0.003330	0	0
ZNF157	7712	broad.mit.edu	37	X	47272121	47272121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:47272121C>T	uc004dhr.1	+	3	718	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	217					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGGGGAGAGGCCCTTTGAATG	0.443000														15			8		0	0	0.003080	0	0
ZNF624	57547	broad.mit.edu	37	17	16527671	16527671	+	Silent	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:16527671T>G	uc010cpi.2	-	5	621	c.529A>C	c.(529-531)Aga>Cga	p.R177R	ZNF624_uc021tre.1_Silent_p.R51R	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTTGTAATCTCAATATCCTA	0.358000														9			53		0	0	0.003610	0	0
PLVAP	83483	broad.mit.edu	37	19	17487999	17487999	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17487999G>A	uc002ngk.1	-	0	139	c.99C>T	c.(97-99)tcC>tcT	p.S33S		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	33						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTGGATGAGGGAGACGAAGA	0.612000														54			17		0	0	0.004990	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171980	207171980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:207171980G>A	uc002vbp.2	+	4	2978	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	910							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						TAAGGAAAATGAACCTATTGA	0.353000														22			10		0	0	0.006214	0	0
KATNAL2	83473	broad.mit.edu	37	18	44579378	44579378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:44579378C>T	uc002lco.3	+	1	228	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	84						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGTAAAATTTCAGAAATACCC	0.333000														14			39		0	0	0.001951	0	0
SLC9A6	10479	broad.mit.edu	37	X	135092720	135092720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:135092720C>T	uc004ezk.3	+	6	1095	c.1019C>T	c.(1018-1020)gCt>gTt	p.A340V	SLC9A6_uc011mvx.2_Missense_Mutation_p.A288V|SLC9A6_uc004ezj.3_Missense_Mutation_p.A308V	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	308					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATGGGTGCTGCTACTGGAGTG	0.388000														43			28		0	0	0.001786	0	0
RARS	5917	broad.mit.edu	37	5	167919667	167919667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:167919667C>T	uc003lzx.3	+	2	225	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	62	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCTACAGAGTCTTCAGGCAGA	0.343000														20			12		0	0	0.001368	0	0
NOS1	4842	broad.mit.edu	37	12	117718653	117718653	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:117718653G>A	uc001twn.2	-	7	2112	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	NOS1_uc021ren.1_Silent_p.F131F|NOS1_uc021reo.1_Silent_p.F131F|NOS1_uc001twm.2_Silent_p.F467F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	467					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCCTCTGGGGGAATATGGTGA	0.627000														5			17		0	0	0.004990	0	0
SIN3B	23309	broad.mit.edu	37	19	16957920	16957920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:16957920C>T	uc002ney.2	+	4	745	c.722C>T	c.(721-723)tCt>tTt	p.S241F	SIN3B_uc002new.3_Missense_Mutation_p.S241F|SIN3B_uc002nez.2_Missense_Mutation_p.S241F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	241					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCAAGCGGTCTCTGGTGAGT	0.652000														39			7		0	0	0.004482	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853392	12853392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12853392C>T	uc001auj.2	+	1	119	c.16C>T	c.(16-18)Cca>Tca	p.P6S		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	6										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGGCCCCACCCAGACT	0.537000														65			36		0	0	0.004878	0	0
GJB2	2706	broad.mit.edu	37	13	20763627	20763627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:20763627G>A	uc001umy.3	-	1	309	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GJB2_uc021rha.1_Missense_Mutation_p.R32C	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	32			R -> H (in DFNB1A).|R -> L.		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ATCATAATGCGAAAAATGAAG	0.542000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			19		0	0	0.007413	0	0
RPL3L	6123	broad.mit.edu	37	16	2004098	2004098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2004098G>A	uc002cnh.3	-	1	102	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CTCCTCTTATGGGGCAGGAAG	0.682000														19			13		0	0	0.004007	0	0
FOXR2	139628	broad.mit.edu	37	X	55650474	55650474	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55650474C>T	uc004duo.3	+	0	642	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	110					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTCTCCTTTCCCTCAGCCCC	0.532000														13			5		0	0	0.000602	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393586	139393586	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:139393586G>A	uc004chz.3	-	31	6060	c.6060C>T	c.(6058-6060)gaC>gaT	p.D2020D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2020					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGTTGACGTCGGCGTGTG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				11			59		0	0	0.003610	0	0
T	6862	broad.mit.edu	37	6	166580940	166580940	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:166580940T>A	uc003qut.1	-	0	426	c.140A>T	c.(139-141)gAg>gTg	p.E47V	T_uc003quu.1_Missense_Mutation_p.E47V|T_uc003quv.1_Missense_Mutation_p.E47V	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	47					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCGCTCTCCTCCAGGCCCAC	0.682000									Chordoma, Familial Clustering of					3			18		0	0	0.001882	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854324	12854324	+	Missense_Mutation	SNP	G	A	A	rs141259766		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12854324G>A	uc001auj.2	+	2	651	c.548G>A	c.(547-549)aGt>aAt	p.S183N		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	183										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCTGTAGTAAGCTGGTC	0.403000														143			123		0	0	0.003610	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748833	101748833	+	Missense_Mutation	SNP	C	T	T	rs141543083		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:101748833C>T	uc003knn.3	-	8	1659	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G243E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G496E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G434E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	496	Kazal-like.					integral to membrane|plasma membrane	transporter activity	p.G496R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGTGAGGTTTCCCAACTTCCC	0.318000														15			22		0	0	0.001882	0	0
ADAM21	8747	broad.mit.edu	37	14	70925007	70925007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:70925007G>A	uc021rvq.1	+	0	791	c.791G>A	c.(790-792)gGa>gAa	p.G264E	ADAM21_uc001xmd.3_Missense_Mutation_p.G264E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	264	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAATCAAGGAAATGTTTTC	0.373000														22			27		0	0	0.004656	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933713	62933713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62933713G>A	uc001nwr.1	-	6	1088	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	363					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCCCCAAAAAGGGATGGTACT	0.448000														10			8		0	0	0.004482	0	0
GPR39	2863	broad.mit.edu	37	2	133175080	133175080	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:133175080G>A	uc002ttl.3	+	0	934	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	155						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAAGCTGCTGATTGGCTTCG	0.617000														19			13		0	0	0.002450	0	0
COL5A3	50509	broad.mit.edu	37	19	10114809	10114809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:10114809C>T	uc002mmq.1	-	4	693	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	203	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ATCAGCAGCTCCTGAATGTCT	0.612000														48			15		0	0	0.002450	0	0
FREM1	158326	broad.mit.edu	37	9	14819287	14819287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:14819287G>A	uc003zlm.3	-	14	3307	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	831					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAATTTAGAGGAAATCCATTC	0.418000														7			22		0	0	0.003954	0	0
UNC13A	23025	broad.mit.edu	37	19	17741523	17741523	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17741523C>T	uc021uqk.1	-	28	3504	c.3462G>A	c.(3460-3462)gaG>gaA	p.E1154E		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1155	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTCCTCATTCTCATCCAGCC	0.582000														20			47		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22466434	22466434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22466434C>T	uc001wcq.3	+	2	521	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron|TCRA_uc010ajd.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 16, partial cds, clone: un 96.																		AACCTGCAGCCTCTACGCAAA	0.498000														12			7		0	0	0.001984	0	0
ANO4	121601	broad.mit.edu	37	12	101493435	101493435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:101493435G>A	uc010svm.1	+	21	2658	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ANO4_uc001thw.2_Missense_Mutation_p.E661K|ANO4_uc001thx.2_Missense_Mutation_p.E696K|ANO4_uc001thy.2_Missense_Mutation_p.E216K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	696						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						CCCACAATGGGAAAAGGACTA	0.343000										HNSCC(74;0.22)				7			25		0	0	0.003954	0	0
SLC25A14	9016	broad.mit.edu	37	X	129483303	129483303	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:129483303C>T	uc004evr.1	+	3	559	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SLC25A14_uc010nrg.3_Silent_p.F129F|SLC25A14_uc011mut.2_Silent_p.F97F|SLC25A14_uc011muu.2_Silent_p.F132F|SLC25A14_uc004evp.1_Silent_p.F132F|SLC25A14_uc004evq.1_Silent_p.F129F	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	132					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGCGCTTATTCGTAGAACGTT	0.373000														23			13		0	0	0.002450	0	0
MUC2	4583	broad.mit.edu	37	11	1093547	1093548	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1093547_1093548CC>AT	uc001lsx.1	+	30	5393_5394	c.5366_5367CC>AT	c.(5365-5367)acc>aAT	p.T1789N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1879						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aagagtacaaccgtgacaccca	0.594000														4			11		0	0	0.004672	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117720	117720	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000205.1:117720G>A	uc002kgk.4	+	0		c.1098G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TTCGTGGGGAGATATTGGGCC	0.612000														11			4		0	0	0.000248	0	0
ZNF791	163049	broad.mit.edu	37	19	12740041	12740041	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12740041C>T	uc002mua.2	+	3	1860	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	ZNF791_uc010xml.1_Silent_p.S534S|ZNF791_uc010dyu.1_Silent_p.S457S|ZNF791_uc010xmm.1_Silent_p.S457S	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTCCACATCCTTAAAAAAAC	0.328000														32			60		0	0	0.003610	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703668	103703668	+	Missense_Mutation	SNP	G	A	A	rs143059000		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:103703668G>A	uc001vpy.4	-	3	1297	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	234					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCGCCACAGGAAATATTGTT	0.463000														6			18		0	0	0.002780	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668540	94668540	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:94668540C>T	uc001dqj.4	-	9	1257	c.888G>A	c.(886-888)agG>agA	p.R296R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.R296R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	296					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCATTTTTCCTTCCAAGTA	0.294000														54			11		0	0	0.001368	0	0
CSF1R	1436	broad.mit.edu	37	5	149456918	149456918	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:149456918G>A	uc003lrl.3	-	4	1005	c.810C>T	c.(808-810)ttC>ttT	p.F270F	CSF1R_uc011dcd.2_Silent_p.F122F|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.F270F|CSF1R_uc011dce.1_Silent_p.F270F|CSF1R_uc011dcf.2_Silent_p.F270F	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	270	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGGCATGTTGGAAATCTACTT	0.522000														42			41		0	0	0.007835	0	0
RHPN2	85415	broad.mit.edu	37	19	33482762	33482762	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:33482762C>T	uc002nuf.3	-	12	1677	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	RHPN2_uc010xro.2_Silent_p.Q386Q|RHPN2_uc002nue.3_Silent_p.Q267Q	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	537	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGAAGTGAACCTGAACGGGGG	0.522000														18			21		0	0	0.001523	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049444	23049444	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:23049444C>T	uc003xda.3	-	9	1276	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	390	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCTCATTTTTCGTGAGGTCCA	0.522000														24			36		0	0	0.002836	0	0
RAET1L	154064	broad.mit.edu	37	6	150342228	150342228	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:150342228G>A	uc011eei.2	-	2	505	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	148	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CAAAGAGTAGGAAGGTCTGTC	0.502000														19			104		0	0	0.003610	0	0
C10orf90	118611	broad.mit.edu	37	10	128147617	128147617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:128147617G>A	uc010qum.2	-	6	2210	c.2180C>T	c.(2179-2181)cCt>cTt	p.P727L	C10orf90_uc001ljp.3_Missense_Mutation_p.P486L|C10orf90_uc001ljq.3_Missense_Mutation_p.P630L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	630										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACCACTCAGAGGATGGGGAAT	0.582000														14			12		0	0	0.001855	0	0
ESX1	80712	broad.mit.edu	37	X	103495543	103495543	+	Missense_Mutation	SNP	C	T	T	rs144948361		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:103495543C>T	uc004ely.3	-	3	656	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	196					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCTCTGATTTCGTTTCCACTT	0.433000														142			60		0	0	0.003610	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000														85			44		0	0	0.003610	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066614	9066614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:9066614G>A	uc003jek.2	-	16	2930	c.2218C>T	c.(2218-2220)Ccg>Tcg	p.P740S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	740	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.P740A(2)|p.P740P(1)|p.P740Q(1)|p.D739Y(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCAAATTCGGATCAGCCAGG	0.557000														65			67		0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53025792	53025793	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:53025792_53025793CT>TA	uc003xqz.2	-	20	3265_3266	c.3109_3110AG>TA	c.(3109-3111)agt>TAt	p.S1037Y	ST18_uc011ldq.1_Missense_Mutation_p.S684Y|ST18_uc011ldr.1_Missense_Mutation_p.S1002Y|ST18_uc011lds.1_Missense_Mutation_p.S942Y|ST18_uc003xra.2_Missense_Mutation_p.S1037Y	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	1037						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTTTGATACTTTCCAGTAGA	0.450000														37			9		0	0	0.004672	0	0
KRT74	121391	broad.mit.edu	37	12	52967139	52967139	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:52967139C>T	uc001sap.1	-	0	471	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	141	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.R141L(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGATCTGTTCCCGCTCCTGGG	0.597000														12			54		0	0	0.003610	0	0
CETN2	1069	broad.mit.edu	37	X	151997134	151997134	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151997134G>A	uc004fgq.3	-	3	423	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	126	EF-hand 3.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.N125T(1)		breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACGCGTTTCAGATTTTTGAAC	0.418000								Direct reversal of damage;Nucleotide excision repair (NER)						63			31		0	0	0.001786	0	0
IL18R1	8809	broad.mit.edu	37	2	102984340	102984340	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:102984340G>A	uc002tbw.4	+	2	264	c.114G>A	c.(112-114)ctG>ctA	p.L38L	IL18R1_uc010ywb.1_Silent_p.L38L|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Silent_p.L38L|IL18R1_uc010ywc.2_Silent_p.L38L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	38	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTCTATCTGAAACATTGCT	0.388000														19			13		0	0	0.002450	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430263	27430263	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27430263G>A	uc010eyv.1	-	3	578	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	SLC5A6_uc002rjd.3_Silent_p.L86L|SLC5A6_uc002rje.1_Silent_p.L86L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	86					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GGCACACCCAGGATGGCCACG	0.592000														16			17		0	0	0.006122	0	0
LRCH2	57631	broad.mit.edu	37	X	114347894	114347894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:114347894C>T	uc010nqe.3	-	20	2214	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	LRCH2_uc004epz.3_Missense_Mutation_p.R711K	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	728	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAACAAAGTCTTTCCTGGAG	0.328000														16			6		0	0	0.001168	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605952	116605952	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:116605952C>T	uc001lcb.3	+	9	1559	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	FAM160B1_uc001lcc.3_Silent_p.L408L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	408			L -> I (in dbSNP:rs17853717).							NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGGGTATTCTCACATCCACTG	0.433000														50			54		0	0	0.003610	0	0
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:73739891G>A	uc002jpg.3	+	25	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_uc002jph.3_Silent_p.G1020G|ITGB4_uc002jpi.4_Silent_p.G1020G|ITGB4_uc002jpj.3_Silent_p.G1020G	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1020	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701000														17			10		0	0	0.000978	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275705	130275705	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:130275705G>A	uc001qgg.4	-	8	2776	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	ADAMTS8_uc001qgf.3_Silent_p.F287F	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	806	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAGGAACAAAGAAGGTGTATT	0.577000														86			42		0	0	0.003610	0	0
SLC36A3	285641	broad.mit.edu	37	5	150664188	150664188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:150664188C>T	uc003ltx.2	-	7	1335	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	SLC36A3_uc003ltv.2_Missense_Mutation_p.E250K|SLC36A3_uc003ltw.2_Missense_Mutation_p.E265K	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	265						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGACGCCTTCAAATGTGAAG	0.468000														16			12		0	0	0.001855	0	0
PLG	5340	broad.mit.edu	37	6	161152120	161152120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:161152120G>A	uc003qtm.4	+	10	1406	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	432	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGATGCCGATAAAGGCCC	0.512000														8			44		0	0	0.002222	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58190528	58190528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:58190528G>A	uc003djo.1	-	3	498	c.401C>T	c.(400-402)cCc>cTc	p.P134L	DNASE1L3_uc011bfd.1_Missense_Mutation_p.P104L|DNASE1L3_uc003djp.1_Missense_Mutation_p.P134L|DNASE1L3_uc003djq.1_Missense_Mutation_p.P134L	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	134					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GACCACAAAGGGCTCCCTGGA	0.522000														33			8		0	0	0.004482	0	0
FLT3	2322	broad.mit.edu	37	13	28622446	28622446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:28622446G>A	uc001urw.3	-	8	1253	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P391S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	391					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTCACAAGGAAATGATTTT	0.393000			"""Mis, O"""		"""AML, ALL"""									32			36		0	0	0.006999	0	0
DLG3	1741	broad.mit.edu	37	X	69669258	69669258	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:69669258A>C	uc004dyi.2	+	2	805	c.458A>C	c.(457-459)cAt>cCt	p.H153P	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	153	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GACAATCCCCATGTCCCTGAT	0.567000														42			38		0	0	0.005524	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960534	73960534	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73960534C>T	uc004eby.3	-	2	4475	c.3858G>A	c.(3856-3858)ggG>ggA	p.G1286G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1286					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGCTCTCCTTCCCCAAGGCCC	0.517000														21			17		0	0	0.004990	0	0
ACER1	125981	broad.mit.edu	37	19	6312166	6312166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:6312166C>T	uc002mel.2	-	2	422	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	115						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCACCTGTTCCCCCCAAGGAA	0.612000														21			11		0	0	0.001855	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947023	101947023	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:101947023C>T	uc011cen.1	-	13	2240	c.1565G>A	c.(1564-1566)tGa>tAa	p.*522*	PPP3CA_uc003hvu.2_Silent_p.*512*|PPP3CA_uc010ilj.2_Silent_p.*470*|PPP3CA_uc003hvt.2_Silent_p.*499*|PPP3CA_uc003hvs.2_Silent_p.*455*|PPP3CA_uc010ilk.2_Silent_p.*290*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	0					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGGAAGTGGTCACTGAATATT	0.448000														65			23		0	0	0.002780	0	0
NPSR1	387129	broad.mit.edu	37	7	34698054	34698054	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:34698054C>T	uc003teh.1	+	0	158	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F10F|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.F10F|NPSR1_uc003tei.1_Silent_p.F10F|NPSR1_uc010kww.1_Silent_p.F10F|NPSR1_uc011kar.1_Silent_p.F10F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	10						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGGGCAGCTTCGATTCCAGTG	0.572000														13			44		0	0	0.003610	0	0
OR8B4	283162	broad.mit.edu	37	11	124294684	124294684	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124294684G>A	uc010sak.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28L(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAATAGAAGGAAAAGAGGGA	0.468000														11			8		0	0	0.004482	0	0
ATCAY	85300	broad.mit.edu	37	19	3910882	3910882	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3910882C>T	uc010xhz.2	+	8	1362	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ATCAY_uc002lyy.4_Silent_p.F287F|ATCAY_uc010dts.3_Silent_p.F44F			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	287	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCGCCCTTTCATCAGGTGAG	0.567000														37			11		0	0	0.000978	0	0
CLCN4	1183	broad.mit.edu	37	X	10181893	10181893	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:10181893C>T	uc004csy.4	+	10	2179	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	CLCN4_uc011mid.2_Silent_p.F489F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	583						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTACCCTTTCCTTGACGTGA	0.607000														24			23		0	0	0.004656	0	0
ASXL3	80816	broad.mit.edu	37	18	31326326	31326326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:31326326G>A	uc010dmg.1	+	11	6569	c.6514G>A	c.(6514-6516)Gaa>Aaa	p.E2172K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1879K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCTGCAATTGAAAAGTCCAT	0.483000														24			46		0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177911152	177911152	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:177911152G>A	uc001glj.1	-	20	2774	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	SEC16B_uc001glk.1_Silent_p.S312S|SEC16B_uc009wwy.1_Silent_p.S190S|SEC16B_uc001glh.1_Silent_p.S294S|SEC16B_uc001gli.1_Silent_p.S635S|SEC16B_uc009wwz.1_Silent_p.S294S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	635					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCAGACGGGAAGCATAAA	0.493000														22			10		0	0	0.006214	0	0
CENPT	80152	broad.mit.edu	37	16	67865711	67865711	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:67865711G>A	uc002eun.4	-	7	1018	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	CENPT_uc010vkc.2_Intron|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Silent_p.L54L	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	157					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GACAGTCTCAGCCTCTGTTTC	0.597000														10			12		0	0	0.000978	0	0
TDRD5	163589	broad.mit.edu	37	1	179632483	179632483	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:179632483G>A	uc010pnp.2	+	16	3024	c.2506_splice	c.e16-1	p.D836_splice	TDRD5_uc021pfm.1_Splice_Site_p.D782_splice|TDRD5_uc001gnf.2_Splice_Site_p.D782_splice|TDRD5_uc021pfn.1_Splice_Site_p.D836_splice|TDRD5_uc001gnh.2_Splice_Site_p.D337_splice	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	819					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCATTATAGGACTGGTGTTT	0.383000														29			9		0	0	0.006214	0	0
FBXO24	26261	broad.mit.edu	37	7	100187615	100187615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100187615C>T	uc011kjz.1	+	1	237	c.169C>T	c.(169-171)Cct>Tct	p.P57S	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.P19S|FBXO24_uc003uvm.1_Missense_Mutation_p.P19S|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.P7S	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	19	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGAAGCTGCCCTTCTTGTGG	0.562000														42			78		0	0	0.003610	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894214	63894214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:63894214C>T	uc003jtj.3	+	4	634	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F	RGS7BP_uc011cqu.2_Missense_Mutation_p.L79F	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	212					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AATGAAAAACCTTTTAAGCAA	0.328000														46			25		0	0	0.003330	0	0
PER1	5187	broad.mit.edu	37	17	8051348	8051349	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:8051348_8051349CC>TT	uc002gkd.3	-	9	1438_1439	c.1200_1201GG>AA	c.(1198-1203)gaggac>gaAAac	p.D401N	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.D385N	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	401	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGGGTCGGTCCTCAGGATGCA	0.639000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						3			17		0	0	0.004672	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265061	36265061	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:36265061C>T	uc011cow.2	-	7	1048	c.555_splice	c.e7+1	p.K185_splice	RANBP3L_uc003jkh.3_Splice_Site_p.K160_splice	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	160					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GCTTTCTCACCTTATTATTTG	0.418000														72			24		0	0	0.003330	0	0
THOC2	57187	broad.mit.edu	37	X	122758465	122758465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:122758465C>T	uc004etu.3	-	25	3145	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1038					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCTTCCGTATCGACTGGCTTC	0.353000														116			34		0	0	0.002836	0	0
PIWIL2	55124	broad.mit.edu	37	8	22161634	22161634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:22161634C>T	uc003xbn.2	+	10	1430	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	PIWIL2_uc011kzf.1_Missense_Mutation_p.R428C|PIWIL2_uc010ltv.2_Missense_Mutation_p.R428C	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	428	PAZ.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCGTACCTATCGTATTGATGA	0.398000														30			39		0	0	0.004878	0	0
ADH1A	124	broad.mit.edu	37	4	100200661	100200661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:100200661G>A	uc003hur.2	-	7	1139	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	342					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCATCCAATGAAAACTTCTT	0.333000														21			22		0	0	0.002780	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307825	39307825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:39307825C>T	uc021wwc.1	-	1	312	c.272G>A	c.(271-273)aGc>aAc	p.S91N	CX3CR1_uc021wwa.1_Missense_Mutation_p.S59N|CX3CR1_uc021wwb.1_Missense_Mutation_p.S59N|CX3CR1_uc003cjl.3_Missense_Mutation_p.S59N|CX3CR1_uc021wwd.1_Missense_Mutation_p.S59N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	59					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.L91L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGGCTTCTTGCTGTTGGTGAG	0.483000														26			43		0	0	0.002222	0	0
VPS13D	55187	broad.mit.edu	37	1	12317070	12317070	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12317070C>T	uc001atv.3	+	8	1008	c.867C>T	c.(865-867)ttC>ttT	p.F289F	VPS13D_uc001atw.3_Silent_p.F289F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	289					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)		TCATGGAATTCCTCAAGGAGC	0.423000														35			35		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71218876	71218876	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:71218876G>A	uc002ezr.3	-	2	304	c.153C>T	c.(151-153)ttC>ttT	p.F51F	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.F51F|HYDIN_uc010vmc.2_Silent_p.F68F|HYDIN_uc010vmd.2_Silent_p.F78F|HYDIN_uc002ezw.4_Silent_p.F68F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	51										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCCTTCAGGAACTCTGAGG	0.403000														5			13		0	0	0.001368	0	0
ZNF480	147657	broad.mit.edu	37	19	52824895	52824895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:52824895C>T	uc010ydl.2	+	4	462	c.392C>T	c.(391-393)tCc>tTc	p.S131F	ZNF480_uc002pyv.3_Missense_Mutation_p.S54F|ZNF480_uc010ydm.2_Missense_Mutation_p.S88F|ZNF480_uc010epn.3_5'UTR|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CTTGGAGTATCCTTTCACTTA	0.373000														30			11		0	0	0.001368	0	0
ATR	545	broad.mit.edu	37	3	142212099	142212099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:142212099G>A	uc003eux.4	-	34	6075	c.5953C>T	c.(5953-5955)Cct>Tct	p.P1985S		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1985	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCATTTTCAGGAAAACATAAT	0.368000								Other conserved DNA damage response genes						23			6		0	0	0.003080	0	0
MMAB	326625	broad.mit.edu	37	12	109999605	109999605	+	Missense_Mutation	SNP	G	A	A	rs138708209		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:109999605G>A	uc001tou.3	-	4	474	c.401C>T	c.(400-402)tCg>tTg	p.S134L	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.S43L	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCCGGGCCGAGGAGCATGG	0.592000														4			10		0	0	0.000673	0	0
DAB1	1600	broad.mit.edu	37	1	57611022	57611022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57611022C>T	uc009vzx.1	-	2	468	c.148G>A	c.(148-150)Gat>Aat	p.D50N	DAB1_uc001cyt.1_Missense_Mutation_p.D50N|DAB1_uc001cyq.1_Missense_Mutation_p.D50N|DAB1_uc001cyr.1_Missense_Mutation_p.D50N|DAB1_uc009vzw.1_Missense_Mutation_p.D50N|DAB1_uc001cys.1_Missense_Mutation_p.D50N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	50	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAAACTTCATCAATCCCGATC	0.408000														22			26		0	0	0.004656	0	0
DLG5	9231	broad.mit.edu	37	10	79566529	79566529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:79566529G>A	uc001jzk.3	-	25	5024	c.4954C>T	c.(4954-4956)Ccc>Tcc	p.P1652S	DLG5_uc001jzi.3_Missense_Mutation_p.P407S|DLG5_uc001jzj.3_Missense_Mutation_p.P1067S|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1652	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.P1652L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TATTTGCTGGGAATCTGCCCG	0.642000														69			22		0	0	0.005443	0	0
ZNF536	9745	broad.mit.edu	37	19	31040070	31040070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:31040070G>A	uc002nsu.1	+	3	3682	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N	ZNF536_uc010edd.1_Missense_Mutation_p.D1182N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGATGAAGAGGATGTTGAAAC	0.557000														28			39		0	0	0.005524	0	0
TTF2	8458	broad.mit.edu	37	1	117629057	117629057	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:117629057C>T	uc001egy.3	+	11	2093	c.2073C>T	c.(2071-2073)atC>atT	p.I691I		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	691	Helicase ATP-binding.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CATATGACATCGTGATCACTA	0.468000														19			7		0	0	0.001984	0	0
ANO4	121601	broad.mit.edu	37	12	101413904	101413904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:101413904G>A	uc010svm.1	+	8	1399	c.827G>A	c.(826-828)gGa>gAa	p.G276E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G241E|ANO4_uc001thx.2_Missense_Mutation_p.G276E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	276						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						TATGAAGAAGGAAAAAACAAG	0.318000										HNSCC(74;0.22)				5			11		0	0	0.000673	0	0
ZNF681	148213	broad.mit.edu	37	19	23938330	23938330	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23938330C>T	uc002nrk.4	-	1	169	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ZNF681_uc002nrl.4_Intron|ZNF681_uc002nrj.4_Intron|ZNF681_uc002nrm.1_5'Flank	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTCTATGGCCACATCCCTAA	0.418000														45			9		0	0	0.006214	0	0
CECR1	51816	broad.mit.edu	37	22	17688079	17688080	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17688079_17688080CC>TT	uc002zmk.1	-	1	635_636	c.423_424GG>AA	c.(421-426)aggggg>agAAgg	p.G142R	CECR1_uc010gqu.1_Missense_Mutation_p.G142R|CECR1_uc011agi.1_Missense_Mutation_p.G100R|CECR1_uc011agj.1_Missense_Mutation_p.G100R	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	142	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGCATGATCCCCCTTGGGGTGA	0.535000														24			69		0	0	0.004672	0	0
LILRB4	11006	broad.mit.edu	37	19	55176613	55176613	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55176613G>T	uc002qgp.3	+	5	1101	c.739G>T	c.(739-741)Ggg>Tgg	p.G247W	LILRB4_uc002qgq.3_Missense_Mutation_p.G247W|LILRB4_uc010ers.1_3'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.G288W|LILRB4_uc010eru.3_Missense_Mutation_p.G276W	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.	247						integral to membrane|plasma membrane	antigen binding|receptor activity	p.G247R(2)		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)		CATGCCTACAGGGTCAGTCCC	0.652000														4			12		0.00010058	0.000131309	0.001368	1	0
PCYT1B	9468	broad.mit.edu	37	X	24637202	24637202	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:24637202C>T	uc004dbi.3	-	2	351	c.118_splice	c.e2-1	p.T40_splice	PCYT1B_uc004dbk.4_Splice_Site_p.T40_splice|PCYT1B_uc004dbj.3_Splice_Site_p.T22_splice	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	40						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CAGTCAGGGTCTAGAAGGGAG	0.463000														21			7		0	0	0.004482	0	0
ALMS1	7840	broad.mit.edu	37	2	73677116	73677116	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:73677116C>T	uc002sje.1	+	7	3570	c.3459C>T	c.(3457-3459)ttC>ttT	p.F1153F	ALMS1_uc002sjf.1_Silent_p.F1111F|ALMS1_uc002sjg.3_Silent_p.F541F|ALMS1_uc002sjh.1_Silent_p.F541F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1153	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAGCATTTTCCACCAGCAGG	0.468000														65			49		0	0	0.003610	0	0
ADAM19	8728	broad.mit.edu	37	5	156915364	156915364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:156915364C>T	uc003lwz.3	-	20	2538	c.2459G>A	c.(2458-2460)gGg>gAg	p.G820E	ADAM19_uc003lww.2_Missense_Mutation_p.G553E|ADAM19_uc003lwy.3_Missense_Mutation_p.G419E|ADAM19_uc011ddr.1_Missense_Mutation_p.G751E	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	820					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACCCGGGCCCTGGGGAGTT	0.637000														22			32		0	0	0.001786	0	0
TGM5	9333	broad.mit.edu	37	15	43531464	43531464	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:43531464C>T	uc001zrd.2	-	8	1010	c.1002_splice	c.e8-1	p.W334_splice	TGM5_uc001zrc.2_5'UTR|TGM5_uc001zre.2_Splice_Site_p.W252_splice	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	334					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CATGGAAGTTCCTGTGTCAAA	0.532000														57			16		0	0	0.004990	0	0
OR7D2	162998	broad.mit.edu	37	19	9296778	9296778	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9296778T>A	uc002mkz.1	+	0	509	c.321T>A	c.(319-321)ttT>ttA	p.F107L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	107					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CCATGTTTTTTCCTATTCTGG	0.512000														51			104		0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154159085	154159085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154159085C>T	uc004fmt.3	-	13	3151	c.2980G>A	c.(2980-2982)Ggg>Agg	p.G994R		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	994	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTTTTCCCTTTAAATAAC	0.333000														31			23		0	0	0.005443	0	0
ODZ1	10178	broad.mit.edu	37	X	123554567	123554567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:123554567G>A	uc010nqy.3	-	24	4640	c.4576C>T	c.(4576-4578)Cgt>Tgt	p.R1526C	ODZ1_uc011muj.2_Missense_Mutation_p.R1525C|ODZ1_uc004euj.3_Missense_Mutation_p.R1519C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1519					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGATGGTACGAATTCGAACA	0.483000														34			31		0	0	0.002096	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174220	150174220	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150174220G>A	uc003whj.3	+	4	1680	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	450						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCGGGACTGGGAAGAGTGCGA	0.547000														34			26		0	0	0.005443	0	0
WNT10B	7480	broad.mit.edu	37	12	49359897	49359897	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:49359897C>T	uc001rss.3	-	4	1595	c.1151G>A	c.(1150-1152)tGg>tAg	p.W384*	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	384					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CACATTCACCCACTCTGTAAC	0.567000														6			31		0	0	0.002836	0	0
SRCAP	10847	broad.mit.edu	37	16	30727693	30727693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30727693C>T	uc002dze.1	+	17	3095	c.2710C>T	c.(2710-2712)Cca>Tca	p.P904S	SRCAP_uc021tgn.1_Missense_Mutation_p.P904S|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P761S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	904					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTGCAATCATCCAAATCTGTT	0.502000														287			129		0	0	0.003610	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781843	159781843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:159781843C>T	uc003lyd.3	-	1	315	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	59	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCCATTCGTCCCATCAT	0.662000														7			9		0	0	0.006214	0	0
LRP8	7804	broad.mit.edu	37	1	53723019	53723019	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:53723019T>G	uc001cvi.2	-	14	2564	c.2327A>C	c.(2326-2328)gAg>gCg	p.E776A	LRP8_uc001cvh.2_Missense_Mutation_p.E329A|LRP8_uc001cvj.2_Missense_Mutation_p.E776A|LRP8_uc001cvk.2_Missense_Mutation_p.E606A|LRP8_uc001cvl.2_Intron|LRP8_uc001cvm.1_Missense_Mutation_p.E361A	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	776	Clustered O-linked oligosaccharides.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GCTTGGTGTCTCTGTGCTGTG	0.592000														15			12		0	0	0.000978	0	0
TRIM61	391712	broad.mit.edu	37	4	165890966	165890966	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:165890966C>T	uc003iqw.3	-	2	800	c.189G>A	c.(187-189)agG>agA	p.R63R		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	63						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TTATAAATTTCCTTTCTGGAC	0.453000														25			13		0	0	0.003163	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756999	56756999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:56756999G>A	uc010rjp.2	+	0	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTCTTTGTGGGATCTAACTTG	0.408000														37			32		0	0	0.002445	0	0
ZNF597	146434	broad.mit.edu	37	16	3487247	3487247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:3487247C>T	uc002cvd.3	-	3	636	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATTTTTGGCTCCTTCCCAGGG	0.378000														88			40		0	0	0.002222	0	0
TMEM86A	144110	broad.mit.edu	37	11	18722508	18722508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:18722508C>T	uc001moz.1	+	1	133	c.50C>T	c.(49-51)cCg>cTg	p.P17L		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	17						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AAACTGGTGCCGTTCTTCAAG	0.572000														63			29		0	0	0.007291	0	0
C10orf81	79949	broad.mit.edu	37	10	115534631	115534631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:115534631G>A	uc001lat.2	+	8	1370	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	C10orf81_uc009xyc.2_Missense_Mutation_p.E188K|C10orf81_uc001lar.2_Missense_Mutation_p.E276K|C10orf81_uc001las.2_Missense_Mutation_p.E188K|C10orf81_uc001lau.2_Missense_Mutation_p.E90K	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	270										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CAGCAAAGAGGAACCCCAGAC	0.468000														31			4		0	0	0.000248	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253616	134253616	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:134253616G>A	uc001qhq.3	-	3	840	c.579C>T	c.(577-579)ttC>ttT	p.F193F	B3GAT1_uc001qhr.3_Silent_p.F193F|B3GAT1_uc010scv.1_Silent_p.F206F	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	193					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCGTCGGCGAAGTAGACCA	0.692000														5			4		0	0	0.000602	0	0
IFNA14	3448	broad.mit.edu	37	9	21239695	21239695	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:21239695G>A	uc010mis.3	-	0	284	c.240C>T	c.(238-240)ctC>ctT	p.L80L	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.V79F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATCTCATGGAGGACAGAGA	0.458000														12			62		0	0	0.003610	0	0
COL9A1	1297	broad.mit.edu	37	6	71004057	71004057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:71004057G>A	uc003pfg.4	-	4	668	c.509C>T	c.(508-510)tCg>tTg	p.S170L		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	170	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S170S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGACAAATTCGAAAAGGCTGC	0.428000														8			64		0	0	0.003610	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444289	5444289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5444289C>T	uc010qzd.2	+	0	949	c.859C>T	c.(859-861)Ccg>Tcg	p.P287S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCACCCCCGGTGATGAA	0.448000														18			12		0	0	0.000978	0	0
APOBR	55911	broad.mit.edu	37	16	28509295	28509295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28509295G>A	uc002dqb.2	+	1	2966	c.2933G>A	c.(2932-2934)gGt>gAt	p.G978D	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.G507D	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	969					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.P978L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCAGAGGAGGTGCTGCCAAC	0.677000														38			30		0	0	0.006230	0	0
NETO1	81832	broad.mit.edu	37	18	70532132	70532132	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:70532132C>T	uc002lkw.3	-	2	415	c.131G>A	c.(130-132)tGg>tAg	p.W44*	NETO1_uc002lky.2_Nonsense_Mutation_p.W44*|NETO1_uc002lkz.3_Nonsense_Mutation_p.W43*	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	44	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGTTTTGTCCAAGTTCCACA	0.408000														13			14		0	0	0.002450	0	0
LAD1	3898	broad.mit.edu	37	1	201355553	201355553	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:201355553G>A	uc001gwm.3	-	2	1171	c.936C>T	c.(934-936)gcC>gcT	p.A312A	LAD1_uc009wzu.1_Silent_p.A334A	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	312						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCCAGGGAGGGCCCTTCCTC	0.682000														32			16		0	0	0.004007	0	0
CSMD2	114784	broad.mit.edu	37	1	34190264	34190264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:34190264G>A	uc001bxm.1	-	17	2914	c.2737C>T	c.(2737-2739)Cca>Tca	p.P913S	CSMD2_uc001bxn.1_Missense_Mutation_p.P873S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	873	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTTACTGGGATTCCTGGA	0.547000														28			9		0	0	0.006214	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009385	58009385	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:58009385C>T	uc001spb.3	+	11	1589	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	ARHGEF25_uc009zpy.3_Nonsense_Mutation_p.R416*|ARHGEF25_uc001soz.1_Nonsense_Mutation_p.R225*|ARHGEF25_uc001spa.3_Nonsense_Mutation_p.R271*|BC073932_uc001spc.3_Non-coding_Transcript	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	377	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCCCGAGGTCGAGAGAGGCG	0.552000														8			50		0	0	0.003610	0	0
SLC5A6	8884	broad.mit.edu	37	2	27423910	27423910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27423910G>A	uc010eyv.1	-	16	2042	c.1720C>T	c.(1720-1722)Ccg>Tcg	p.P574S	SLC5A6_uc002rjd.3_Missense_Mutation_p.P574S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	574					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	p.P574L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CAGGACAACGGAAGGAGGGAC	0.577000														27			29		0	0	0.002836	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529376	5529376	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5529376G>A	uc021qcw.1	-	0	1413	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.I471I	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	471										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGCTCAGGGATTCCAGGAA	0.547000														28			14		0	0	0.002450	0	0
MVP	9961	broad.mit.edu	37	16	29841919	29841919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:29841919C>T	uc002dui.3	+	1	201	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.H17Y|MVP_uc010vea.2_5'Flank	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	17					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCACTATATCCATGTGCTGGA	0.577000														55			34		0	0	0.007835	0	0
NCAPD2	9918	broad.mit.edu	37	12	6636077	6636077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:6636077C>T	uc001qoo.2	+	21	2801	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	NCAPD2_uc009zen.1_Missense_Mutation_p.P791S|NCAPD2_uc010sfd.1_Missense_Mutation_p.P874S	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	919					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CGCAATGCTCCCCACTTTCCT	0.562000														26			35		0	0	0.006230	0	0
PSD3	23362	broad.mit.edu	37	8	18658824	18658824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:18658824G>A	uc003wza.3	-	6	2082	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	PSD3_uc003wyy.3_Missense_Mutation_p.S126F|PSD3_uc003wyz.3_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	660	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATATCTATTGGAGAAGTGTAT	0.294000														17			27		0	0	0.001786	0	0
HTR1F	3355	broad.mit.edu	37	3	88040393	88040393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:88040393G>A	uc003dqr.2	+	1	652	c.494G>A	c.(493-495)gGa>gAa	p.G165E	HTR1F_uc021xbd.1_Missense_Mutation_p.G165E	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	165					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGGCACCAAGGAACTAGCAGA	0.413000														15			16		0	0	0.004990	0	0
GNA11	2767	broad.mit.edu	37	19	3121120	3121120	+	Silent	SNP	C	T	T	rs140749796		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3121120C>T	uc002lxd.3	+	6	1265	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	341					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTTCGTGTTCGCGGCCGTGA	0.592000			Mis		uveal melanoma									16			8		0	0	0.003080	0	0
GPR83	10888	broad.mit.edu	37	11	94113596	94113596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:94113596G>A	uc001pet.2	-	3	1163	c.991C>T	c.(991-993)Cac>Tac	p.H331Y		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	331						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAAACCAGTGGAAGGCAAAG	0.522000														42			19		0	0	0.001523	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931837	102931837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:102931837C>T	uc022cbw.1	-	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E	MORF4L2_uc004ekw.3_Missense_Mutation_p.G40E|MORF4L2_uc004ela.3_Missense_Mutation_p.G40E|MORF4L2_uc004elb.3_Missense_Mutation_p.G40E|MORF4L2_uc004ekx.3_Missense_Mutation_p.G40E|MORF4L2_uc004eky.3_Missense_Mutation_p.G40E|MORF4L2_uc010nos.3_Missense_Mutation_p.G40E|MORF4L2_uc004ekz.3_Missense_Mutation_p.G40E|MORF4L2_uc011mry.2_Missense_Mutation_p.G40E|MORF4L2_uc011mrz.2_Missense_Mutation_p.G40E|MORF4L2_uc004elc.3_Missense_Mutation_p.G40E|MORF4L2_uc004ele.3_Missense_Mutation_p.G40E|MORF4L2_uc004elf.3_Missense_Mutation_p.G40E|MORF4L2_uc011msa.2_Missense_Mutation_p.G40E|MORF4L2_uc011msb.2_Missense_Mutation_p.G40E|MORF4L2_uc011msc.2_Missense_Mutation_p.G40E|MORF4L2_uc011msd.2_Missense_Mutation_p.G40E|MORF4L2_uc004eld.3_Missense_Mutation_p.G40E	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	40					DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TGTCTTCTTTCCTGAGGAGGC	0.507000														32			14		0	0	0.001855	0	0
CDS1	1040	broad.mit.edu	37	4	85562043	85562043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:85562043G>A	uc011ccv.2	+	9	1430	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	CDS1_uc010ike.1_Missense_Mutation_p.R115Q	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	311					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTGGAATACCGAAGTGATGTA	0.398000														43			47		0	0	0.003610	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061705	41061705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41061705C>T	uc003jmj.4	-	5	1072	c.582G>A	c.(580-582)atG>atA	p.M194I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.M194I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	194							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCCACTTCTCCATTATATACC	0.483000														93			48		0	0	0.003610	0	0
RETSAT	54884	broad.mit.edu	37	2	85578056	85578056	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:85578056G>A	uc002spd.3	-	2	635	c.444C>T	c.(442-444)ccC>ccT	p.P148P	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Silent_p.P87P	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	148					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GAGAGGACAGGGGAGCCCAGT	0.532000														26			25		0	0	0.003954	0	0
SVEP1	79987	broad.mit.edu	37	9	113212404	113212404	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:113212404G>A	uc010mtz.3	-	23	4375	c.4038C>T	c.(4036-4038)gtC>gtT	p.V1346V	SVEP1_uc010mua.1_Silent_p.V1346V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1346	EGF-like 5; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACACTCATCGACGTTCTTTC	0.448000														48			152		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55541144	55541144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:55541144G>A	uc003xsd.1	+	3	4850	c.4702G>A	c.(4702-4704)Gaa>Aaa	p.E1568K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1568					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAACTATGGAAACTGGAAG	0.373000														15			9		0	0	0.004482	0	0
RC3H2	54542	broad.mit.edu	37	9	125617595	125617595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125617595G>A	uc010mwc.1	-	14	2924	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P895S|RC3H2_uc004bne.4_Missense_Mutation_p.P895S	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	895						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCACTAAAGGGAATTATTGGA	0.433000														18			24		0	0	0.003954	0	0
MYLK	4638	broad.mit.edu	37	3	123383085	123383085	+	Missense_Mutation	SNP	C	T	T	rs1142295		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123383085C>T	uc003ego.3	-	22	4134	c.3852G>A	c.(3850-3852)atG>atA	p.M1284I	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.M84I|MYLK_uc011bjw.2_Missense_Mutation_p.M1284I|MYLK_uc003egp.3_Missense_Mutation_p.M1215I|MYLK_uc003egq.3_Missense_Mutation_p.M1284I|MYLK_uc003egr.3_Missense_Mutation_p.M1215I|MYLK_uc003egs.3_Missense_Mutation_p.M1108I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1284	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			M -> I (in Ref. 3; AAD15922/AAD15923/ AAD15924).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCCACCTTCATGTGCTCGC	0.627000														80			18		0	0	0.007413	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291345	126291345	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:126291345C>T	uc003ejc.3	-	2	599	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_001039783	NP_001034872	Q6F5E7	TR3N_HUMAN	Homo sapiens thioredoxin reductase 3 neighbor (TXNRD3NB), mRNA.	14										endometrium(1)|large_intestine(2)|skin(2)	5						GCTCAGCTTTCAGCTCCGGCT	0.612000														27			8		0	0	0.004482	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767491	31767491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:31767491C>T	uc002nsy.4	-	1	3273	c.3208G>A	c.(3208-3210)Gac>Aac	p.D1070N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	1070					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGAAGGTGGTCTTCCGGAGAT	0.468000														59			20		0	0	0.002780	0	0
A4GALT	53947	broad.mit.edu	37	22	43089247	43089247	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:43089247G>A	uc003bdb.3	-	2	972	c.711C>T	c.(709-711)ttC>ttT	p.F237F	A4GALT_uc021wqo.1_Silent_p.F237F|A4GALT_uc021wqp.1_Silent_p.F237F|A4GALT_uc010gzd.3_Silent_p.F237F|A4GALT_uc021wqq.1_Silent_p.F237F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	237					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTGGTCCACGAAGTCCCGCA	0.657000														15			13		0	0	0.002450	0	0
OMD	4958	broad.mit.edu	37	9	95179207	95179207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:95179207C>T	uc004asd.4	-	1	1003	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	Homo sapiens osteomodulin (OMD), mRNA.	212			E -> G (in dbSNP:rs34413259).		cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ATTAGTTTTTCCATTTTGGCA	0.353000			T	USP6	aneurysmal bone cysts									8			39		0	0	0.005524	0	0
PDGFC	56034	broad.mit.edu	37	4	157732134	157732134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:157732134C>T	uc003iph.2	-	2	841	c.350G>A	c.(349-351)gGa>gAa	p.G117E	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_5'UTR|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	117	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TAATATAGTTCCATCACTGGG	0.353000														13			8		0	0	0.000673	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962655	73962655	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73962655G>A	uc004eby.3	-	2	2354	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	579					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGCCAGCTTGGCATATTTGT	0.448000														19			9		0	0	0.004482	0	0
REG3A	5068	broad.mit.edu	37	2	79386514	79386514	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:79386514G>A	uc002sod.2	-	0	366	c.18C>T	c.(16-18)gcC>gcT	p.A6A	REG3A_uc002soe.2_Silent_p.A6A|REG3A_uc002sof.2_Silent_p.A6A	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	6					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.A6V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CACTGGGCAGGGCCATGGGAG	0.537000														25			13		0	0	0.001855	0	0
CRB2	286204	broad.mit.edu	37	9	126129490	126129490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:126129490G>A	uc004bnx.1	+	4	886	c.794G>A	c.(793-795)tGt>tAt	p.C265Y	CRB2_uc004bnw.1_Missense_Mutation_p.C265Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	265	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGACGAGTGTGCATCGAGC	0.687000														7			60		0	0	0.003610	0	0
CSTF1	1477	broad.mit.edu	37	20	54972861	54972861	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:54972861C>T	uc002xxl.1	+	3	809	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CSTF1_uc002xxm.1_Silent_p.S203S|CSTF1_uc002xxn.1_Silent_p.S203S	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	203					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGATTATTCCAAACCATCAG	0.363000														51			14		0	0	0.001855	0	0
HTRA3	94031	broad.mit.edu	37	4	8271918	8271918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:8271918G>A	uc003gla.3	+	0	430	c.223G>A	c.(223-225)Gag>Aag	p.E75K	HTRA3_uc003gkz.3_Missense_Mutation_p.E75K	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	75	IGFBP N-terminal.|Kazal-like.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CGAGAGCCTGGAGTGCGTGCG	0.731000														5			6		0	0	0.001984	0	0
MYO1B	4430	broad.mit.edu	37	2	192206274	192206274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:192206274C>T	uc010fsg.2	+	4	689	c.434C>T	c.(433-435)tCc>tTc	p.S145F	MYO1B_uc002usq.2_Missense_Mutation_p.S145F|MYO1B_uc002usr.2_Missense_Mutation_p.S145F|MYO1B_uc002uss.1_Missense_Mutation_p.S145F	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	145	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTTTTACAGTCCAACCCGGTC	0.443000														39			18		0	0	0.007413	0	0
PYCR1	5831	broad.mit.edu	37	17	79892616	79892616	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79892616G>A	uc002kct.1	-	5	628	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PYCR1_uc002kcp.3_Silent_p.F182F|PYCR1_uc002kcr.1_Silent_p.F182F|PYCR1_uc010wvd.1_Silent_p.F209F|PYCR1_uc002kcu.1_Intron|PYCR1_uc010wve.1_Intron	NM_006907	NP_008838	P32322	P5CR1_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA.	182					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CCAGGGCTGTGAATGCCTGTG	0.647000														3			8		0	0	0.003080	0	0
HDAC8	55869	broad.mit.edu	37	X	71708808	71708808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:71708808C>T	uc004eau.3	-	6	1054	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	HDAC8_uc011mqe.2_Missense_Mutation_p.E95K|HDAC8_uc011mqg.2_Missense_Mutation_p.E147K|HDAC8_uc011mqf.2_Non-coding_Transcript|HDAC8_uc011mqh.2_Missense_Mutation_p.E185K|HDAC8_uc010nlk.2_Missense_Mutation_p.E109K|HDAC8_uc004eav.3_Missense_Mutation_p.E238K|HDAC8_uc022byv.1_Missense_Mutation_p.E121K	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	238	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TAATATTTTTCATCTTGTATG	0.438000														21			12		0	0	0.002450	0	0
FER1L6	654463	broad.mit.edu	37	8	125072424	125072424	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:125072424C>A	uc003yqw.3	+	22	3084	c.2878C>A	c.(2878-2880)Cct>Act	p.P960T	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	960						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCGGTAGGTTCCTCCTTCTGG	0.547000														58			13		1.49906e-05	1.96269e-05	0.002450	1	0
LRRC6	23639	broad.mit.edu	37	8	133645158	133645158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:133645158C>T	uc003ytk.3	-	4	555	c.481G>A	c.(481-483)Gac>Aac	p.D161N	LRRC6_uc022bbp.1_Missense_Mutation_p.D161N|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	161	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTGAATAGTCCTGCAATGCC	0.373000														37			19		0	0	0.006122	0	0
C15orf42	90381	broad.mit.edu	37	15	90167874	90167874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:90167874C>T	uc002boe.3	+	19	4333	c.4333C>T	c.(4333-4335)Ctc>Ttc	p.L1445F	C15orf42_uc021sug.1_Missense_Mutation_p.L1444F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1445					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGCCCTGGTCTCAGGAGTGA	0.557000														35			68		0	0	0.003610	0	0
PRKCH	5583	broad.mit.edu	37	14	61995922	61995922	+	Silent	SNP	C	T	T	rs141291003	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:61995922C>T	uc001xfn.3	+	10	1868	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	PRKCH_uc010tsa.2_Silent_p.I360I|PRKCH_uc010tsb.2_Silent_p.I89I	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	521	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGACTATATCGCTCCAGAGG	0.527000														37			28		0	0	0.002096	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138774	138774	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000213.1:138774C>G	uc011mfl.1	-	0	562	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	172			E -> Q.			plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TACCTCTTTTCCTTGTCCCTC	0.582000														5			3		0	0	0.004672	0	0
MARCO	8685	broad.mit.edu	37	2	119750850	119750850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:119750850G>A	uc002tln.1	+	15	1535	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	MARCO_uc010yyf.1_Missense_Mutation_p.G390E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	468	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TACTCCAAAGGAAGGGCCCTG	0.547000														37			28		0	0	0.006320	0	0
CACNA1C	775	broad.mit.edu	37	12	2566793	2566793	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:2566793G>A	uc009zdu.1	+	4	991	c.678G>A	c.(676-678)ggG>ggA	p.G226G	CACNA1C_uc001qkc.2_Silent_p.G226G|CACNA1C_uc001qjz.2_Silent_p.G226G|CACNA1C_uc001qkd.2_Silent_p.G226G|CACNA1C_uc001qke.2_Silent_p.G226G|CACNA1C_uc001qkf.2_Silent_p.G226G|CACNA1C_uc009zdw.1_Silent_p.G226G|CACNA1C_uc001qkg.2_Silent_p.G226G|CACNA1C_uc001qkh.2_Silent_p.G226G|CACNA1C_uc001qkl.2_Silent_p.G226G|CACNA1C_uc001qkj.2_Silent_p.G226G|CACNA1C_uc001qkk.2_Silent_p.G226G|CACNA1C_uc001qkn.2_Silent_p.G226G|CACNA1C_uc001qkm.2_Silent_p.G226G|CACNA1C_uc001qko.2_Silent_p.G226G|CACNA1C_uc001qkp.2_Silent_p.G226G|CACNA1C_uc001qkq.2_Silent_p.G226G|CACNA1C_uc001qku.2_Silent_p.G226G|CACNA1C_uc001qkr.2_Silent_p.G226G|CACNA1C_uc001qks.2_Silent_p.G226G|CACNA1C_uc001qkt.2_Silent_p.G226G|CACNA1C_uc009zdv.1_Silent_p.G226G|CACNA1C_uc001qkb.2_Silent_p.G226G|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	226					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTCGGAGGGAAAGGGGCCG	0.557000														27			109		0	0	0.003610	0	0
KLK7	5650	broad.mit.edu	37	19	51480889	51480889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51480889C>T	uc002puo.3	-	5	767	c.665G>A	c.(664-666)gGa>gAa	p.G222E	KLK7_uc002pup.3_Missense_Mutation_p.G222E|KLK7_uc021uyj.1_Missense_Mutation_p.G215E|KLK7_uc010eok.3_Missense_Mutation_p.G150E	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	222	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGAAAGTTCCCCAGGACAC	0.522000														32			9		0	0	0.004482	0	0
ANXA11	311	broad.mit.edu	37	10	81917756	81917756	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:81917756G>A	uc010qlx.1	-	10	1652	c.1602C>T	c.(1600-1602)gcC>gcT	p.A534A	ANXA11_uc001kbq.1_Silent_p.A434A|ANXA11_uc001kbr.1_Silent_p.A434A|ANXA11_uc001kbs.1_Silent_p.A434A|ANXA11_uc001kbt.1_Silent_p.A434A|ANXA11_uc010qly.1_Silent_p.A401A|ANXA11_uc001kbu.1_Silent_p.A434A	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	434					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCGCAAAGAAGGCTGGGGTAT	0.517000														34			12		0	0	0.001855	0	0
STAB1	23166	broad.mit.edu	37	3	52551961	52551961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52551961C>T	uc003dej.3	+	44	4777	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1568	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGACATGTACCTGCGACACA	0.597000														50			16		0	0	0.006122	0	0
KIAA1109	84162	broad.mit.edu	37	4	123176012	123176012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:123176012C>T	uc003ieh.3	+	36	6172	c.6127C>T	c.(6127-6129)Ccc>Tcc	p.P2043S	KIAA1109_uc003iel.1_5'UTR|KIAA1109_uc003iek.2_Missense_Mutation_p.P662S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2043					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGCTTGTTCCCATTGACCA	0.363000														7			13		0	0	0.001855	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654154	61654154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:61654154C>T	uc002ljv.3	+	6	936	c.767C>T	c.(766-768)tCa>tTa	p.S256L	SERPINB8_uc002lju.3_Missense_Mutation_p.S256L|SERPINB8_uc010xex.2_Missense_Mutation_p.S74L	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	256					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGGACAAATTCAGAAAAGTTG	0.373000														19			58		0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170063573	170063573	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:170063573G>A	uc002ues.3	-	38	6870	c.6657C>T	c.(6655-6657)ttC>ttT	p.F2219F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2219					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)	TACAGTCAAGGAAAGAACGCT	0.493000														69			33		0	0	0.003755	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:99932099C>T	uc001pga.3	+	9	1640	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000														15			5		0	0	0.001168	0	0
MYH15	22989	broad.mit.edu	37	3	108147366	108147366	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108147366G>A	uc003dxa.1	-	27	3792	c.3735C>T	c.(3733-3735)acC>acT	p.T1245T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1245						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCAACACGGGTCAGGAGGT	0.512000														53			73		0	0	0.003610	0	0
KIF26B	55083	broad.mit.edu	37	1	245582915	245582915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:245582915G>A	uc001ibf.1	+	3	1474	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	KIF26B_uc010pyq.1_Missense_Mutation_p.G345E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	345					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCCGGGAGGGACTAACAGAA	0.562000														17			9		0	0	0.004482	0	0
PCDH17	27253	broad.mit.edu	37	13	58208265	58208265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:58208265C>T	uc001vhq.1	+	0	2477	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	PCDH17_uc010aec.1_Missense_Mutation_p.P529S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCTGTGAATCCCACGAACGG	0.597000														27			13		0	0	0.001368	0	0
APBA2	321	broad.mit.edu	37	15	29390742	29390743	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:29390742_29390743CC>TT	uc001zck.3	+	7	1505_1506	c.1301_1302CC>TT	c.(1300-1302)tcc>tTT	p.S434F	APBA2_uc010azj.2_Missense_Mutation_p.S422F|APBA2_uc010uat.2_Missense_Mutation_p.S422F|APBA2_uc001zcl.3_Missense_Mutation_p.S422F|APBA2_uc001zcm.1_Missense_Mutation_p.S126F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	434	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTTCATTTCCACCCAGAGGA	0.446000														67			16		0	0	0.004672	0	0
COL5A1	1289	broad.mit.edu	37	9	137708893	137708893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:137708893G>A	uc004cfe.3	+	52	4526	c.4144G>A	c.(4144-4146)Gaa>Aaa	p.E1382K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1382	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACTGGTGAACCAGGTCC	0.547000														12			38		0	0	0.002522	0	0
VCAN	1462	broad.mit.edu	37	5	82836397	82836398	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:82836397_82836398GG>AA	uc003kii.3	+	7	7931_7932	c.7575_7576GG>AA	c.(7573-7578)agggaa>agAAaa	p.E2526K	VCAN_uc003kij.3_Missense_Mutation_p.E1539K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1190K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2526	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCGTTTCAGGGAATTCGAGGA	0.401000														12			9		0	0	0.004672	0	0
SH3GL1	6455	broad.mit.edu	37	19	4364151	4364151	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4364151G>A	uc002maj.3	-	4	599	c.399C>T	c.(397-399)atC>atT	p.I133I	SH3GL1_uc002mak.3_Intron|SH3GL1_uc010xig.2_Silent_p.I85I	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	133	BAR.				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)		GCTTGACCTCGATGTCCAGGG	0.602000			T	MLL	AL									30			39		0	0	0.005524	0	0
PCSK7	9159	broad.mit.edu	37	11	117089788	117089788	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:117089788G>A	uc001pqr.3	-	10	1617	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	472	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTGCATTCACGAGCCTCCAGG	0.597000			T	IGH@	MLCLS									11			5		0	0	0.000602	0	0
ZNF560	147741	broad.mit.edu	37	19	9578989	9578989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9578989C>T	uc002mlp.1	-	9	844	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ZNF560_uc010dwr.1_Missense_Mutation_p.E106K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCATAGAGTTCCTCTCCATTT	0.363000														29			7		0	0	0.001984	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872073	51872073	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:51872073C>T	uc002xwo.3	+	1	2963	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	TSHZ2_uc021wex.1_Silent_p.I689I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	692					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGCCATGCATCAACCCACTCA	0.627000														24			26		0	0	0.003954	0	0
GLCCI1	113263	broad.mit.edu	37	7	8124643	8124643	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:8124643A>C	uc003srk.3	+	6	1853	c.1294A>C	c.(1294-1296)Atg>Ctg	p.M432L		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	432										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTTTGAGGAAATGGCGTAAGT	0.443000														18			38		0	0	0.006999	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353724	37353724	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:37353724G>A	uc002xjc.3	+	0	620	c.357G>A	c.(355-357)tgG>tgA	p.W119*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	119					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCACGGCGTGGGAGGCAGGCT	0.682000														86			72		0	0	0.003610	0	0
SF3B1	23451	broad.mit.edu	37	2	198274716	198274716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:198274716G>A	uc002uue.3	-	6	730	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	228	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTAAGGAAGGAGTATGCCCA	0.403000			Mis		myelodysplastic syndrome									29			18		0	0	0.001216	0	0
DNAH5	1767	broad.mit.edu	37	5	13886082	13886082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13886082C>T	uc003jfd.2	-	17	2776	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	912	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAACTTTCATTTTTGTAA	0.308000									Kartagener syndrome					47			18		0	0	0.001216	0	0
SNX6	58533	broad.mit.edu	37	14	35072581	35072581	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:35072581G>A	uc001wsf.1	-	5	533	c.525C>T	c.(523-525)ttC>ttT	p.F175F	SNX6_uc001wse.1_Silent_p.F47F|SNX6_uc010tpm.1_Silent_p.F51F|SNX6_uc010amm.1_Silent_p.F51F	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	163					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AGAAGACATGGAAATTTAAAT	0.353000														26			6		0	0	0.001984	0	0
PHF8	23133	broad.mit.edu	37	X	54044242	54044242	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54044242C>T	uc004dsu.3	-	4	660	c.414G>A	c.(412-414)gtG>gtA	p.V138V	PHF8_uc004dsv.3_5'UTR|PHF8_uc004dst.3_Silent_p.V102V|PHF8_uc004dsw.3_Silent_p.V102V|PHF8_uc004dsy.3_Silent_p.V102V	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	138					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTTCAGAATCACTTCATCTG	0.542000														23			9		0	0	0.004482	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41009507	41009507	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41009507C>T	uc003jmj.4	-	32	3784	c.3294_splice	c.e32-1	p.R1098_splice	HEATR7B2_uc003jmi.4_Splice_Site_p.R653_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1098							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTCTTTGTGTCCCTAGGGTGG	0.463000														68			30		0	0	0.002445	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591627	70591627	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:70591627G>A	uc003xyl.3	-	7	2717	c.2010C>T	c.(2008-2010)atC>atT	p.I670I	SLCO5A1_uc010lzb.3_Silent_p.I615I|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.I670I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	670						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGTTACTATGATAGCTGATG	0.423000														35			53		0	0	0.003610	0	0
ADAM7	8756	broad.mit.edu	37	8	24324357	24324357	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24324357G>A	uc003xeb.3	+	5	548	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ADAM7_uc003xea.1_Silent_p.V145V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	145					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGAACCAGTGAAATACTCAG	0.368000														58			15		0	0	0.004007	0	0
PIGS	94005	broad.mit.edu	37	17	26887181	26887181	+	Silent	SNP	G	A	A	rs35420088		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:26887181G>A	uc002hbo.2	-	6	1078	c.705C>T	c.(703-705)aaC>aaT	p.N235N	PIGS_uc002hbn.2_Silent_p.N227N|PIGS_uc010wap.1_Silent_p.N174N	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	235					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TGGGGTCTGGGTTGAGTAAAC	0.547000														4			45		0	0	0.003610	0	0
HUNK	30811	broad.mit.edu	37	21	33340639	33340639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:33340639C>T	uc002yph.3	+	5	1312	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	318	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACTGGCGAATCGCTGGCTTAA	0.527000														41			24		0	0	0.002780	0	0
MMP17	4326	broad.mit.edu	37	12	132334600	132334600	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:132334600C>T	uc001ujc.1	+	8	1557	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	MMP17_uc001ujd.1_Silent_p.S402S	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	486	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TGCGCTGGTCCGACGGTGAGT	0.677000														4			8		0	0	0.003080	0	0
PMF1-BGLAP	100527963	broad.mit.edu	37	1	156212553	156212553	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156212553C>T	uc021pbb.1	+	6	571	c.543_splice	c.e6-1	p.S181_splice	PMF1-BGLAP_uc021pbc.1_Splice_Site_p.P202_splice|PMF1-BGLAP_uc001fns.2_Splice_Site_p.S136_splice|PMF1-BGLAP_uc021pbd.1_Splice_Site_p.P133_splice|BGLAP_uc001fnt.3_Splice_Site_p.A35_splice	NM_001199661	NP_001186590	Q6P1K2	PMF1_HUMAN	Homo sapiens PMF1-BGLAP readthrough (PMF1-BGLAP), transcript variant 1, mRNA.	0					cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	MIS12/MIND type complex|cytosol|transcription factor complex	leucine zipper domain binding|transcription coactivator activity										TGCTCCACAGCCTTTGTGTCC	0.622000														25			21		0	0	0.002299	0	0
ODZ3	55714	broad.mit.edu	37	4	183713753	183713753	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:183713753C>T	uc003ivd.1	+	24	6003	c.5928C>T	c.(5926-5928)gtC>gtT	p.V1976V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1976					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGCAGGAGTCCTAAAGACAG	0.413000														65			99		0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:69058566C>T	uc003xxv.1	+	33	4237	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000														15			11		0	0	0.000978	0	0
TIMP3	7078	broad.mit.edu	37	22	33253278	33253278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:33253278C>T	uc003anb.3	+	2	1433	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	83	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GCAGTACATCCATACGGAAGC	0.512000														41			62		0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675880	167675880	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:167675880C>T	uc011cjq.1	-	7	803	c.746_splice	c.e7-1	p.R249_splice	SPOCK3_uc021xuf.1_Splice_Site_p.R240_splice|SPOCK3_uc011cjr.1_Splice_Site_p.R120_splice|SPOCK3_uc003iri.1_Splice_Site_p.R240_splice|SPOCK3_uc011cjs.1_Splice_Site_p.R189_splice|SPOCK3_uc003irj.1_Splice_Site_p.R237_splice|SPOCK3_uc011cjt.1_Splice_Site_p.R148_splice|SPOCK3_uc011cjp.2_Splice_Site_p.G197_splice|SPOCK3_uc011cju.1_Splice_Site_p.R144_splice|SPOCK3_uc011cjv.1_Splice_Site_p.R142_splice|SPOCK3_uc003irk.4_Splice_Site_p.R237_splice	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	240					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GGTATCGAATCCTAAAGGCAA	0.383000														14			9		0	0	0.004482	0	0
HTRA1	5654	broad.mit.edu	37	10	124249007	124249007	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124249007G>A	uc001lgj.2	+	2	770	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	214	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAGATGGACTGATCGTGACAA	0.493000														54			22		0	0	0.003330	0	0
CRB1	23418	broad.mit.edu	37	1	197396826	197396826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:197396826G>A	uc001gtz.3	+	6	2580	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R	CRB1_uc010poz.2_Missense_Mutation_p.G722R|CRB1_uc009wza.3_Missense_Mutation_p.G679R|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.G272R|CRB1_uc001gub.1_Missense_Mutation_p.G440R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	791	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTTAATGATGGAAATGTCCA	0.368000														12			5		0	0	0.000602	0	0
IL16	3603	broad.mit.edu	37	15	81592267	81592267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:81592267C>T	uc021ssh.1	+	12	2701	c.2600C>T	c.(2599-2601)tCc>tTc	p.S867F	IL16_uc010blq.1_Missense_Mutation_p.S821F|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.S909F|IL16_uc002bgg.3_Missense_Mutation_p.S867F|IL16_uc002bgi.1_Missense_Mutation_p.S257F|IL16_uc002bgj.3_Missense_Mutation_p.S361F|IL16_uc021ssi.1_Missense_Mutation_p.S166F|IL16_uc002bgl.1_Missense_Mutation_p.S166F|IL16_uc010unq.1_Missense_Mutation_p.S166F	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	867					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTCCAGCCCTCCTCTGGGGAG	0.587000														39			5		0	0	0.000602	0	0
OR5K4	403278	broad.mit.edu	37	3	98073149	98073149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:98073149C>T	uc011bgv.2	+	0	452	c.452C>T	c.(451-453)gCt>gTt	p.A151V		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTTCAAAGCTGGAAACCTG	0.458000														58			11		0	0	0.000978	0	0
NANOS3	342977	broad.mit.edu	37	19	13988108	13988108	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:13988108C>T	uc002mxj.4	+	0	46	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	16					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TTTGGCACACCTGGTTAGGGC	0.602000														98			146		0	0	0.003610	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402414	47402415	+	Missense_Mutation	DNP	CC	TT	TT	rs148717576		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47402414_47402415CC>TT	uc001cqp.4	-	3	482_483	c.431_432GG>AA	c.(430-432)cgg>cAA	p.R144Q	CYP4A11_uc001cqq.2_Missense_Mutation_p.R144Q|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGTCAGCATCCGTCGATGCTG	0.530000														16			10		0	0	0.004672	0	0
RBM3	5935	broad.mit.edu	37	X	48433953	48433953	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:48433953C>T	uc004dkf.2	+	2	342	c.108C>T	c.(106-108)gtC>gtT	p.V36V		NM_006743	NP_006734	P98179	RBM3_HUMAN	Homo sapiens RNA binding motif (RNP1, RRM) protein 3 (RBM3), mRNA.	36	RRM.				positive regulation of translation	dendrite|nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCACAGTGGTCGTTGTCAAGG	0.537000														29			14		0	0	0.002450	0	0
ITPKB	3707	broad.mit.edu	37	1	226924447	226924447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:226924447G>A	uc010pvo.2	-	1	1053	c.713C>T	c.(712-714)cCc>cTc	p.P238L	ITPKB_uc001hqh.3_Missense_Mutation_p.P238L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	238							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGCCCGGCCGGGAAGAGGTGG	0.612000														115			36		0	0	0.001951	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868969	51868969	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:51868969G>A	uc001rys.1	+	15	2329	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	SLC4A8_uc001rym.3_Silent_p.T664T|SLC4A8_uc001ryn.3_Silent_p.T664T|SLC4A8_uc001ryo.2_Silent_p.T664T|SLC4A8_uc010snj.2_Silent_p.T744T|SLC4A8_uc001ryr.3_Silent_p.T717T|SLC4A8_uc010snk.2_Silent_p.T664T	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	717					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CGTTTAAGACGAGCCGTTATT	0.433000														28			29		0	0	0.006999	0	0
ABCB7	22	broad.mit.edu	37	X	74332752	74332752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:74332752C>T	uc004ebz.3	-	2	330	c.305G>A	c.(304-306)gGa>gAa	p.G102E	ABCB7_uc010nlt.3_Missense_Mutation_p.G101E|ABCB7_uc004eca.3_Missense_Mutation_p.G101E|ABCB7_uc011mqn.2_Missense_Mutation_p.G75E|ABCB7_uc010nls.3_Missense_Mutation_p.G102E	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	101					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGTCCTCCTCCTGCATGACC	0.423000														57			33		0	0	0.003271	0	0
LRP12	29967	broad.mit.edu	37	8	105503740	105503740	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:105503740C>A	uc003yma.3	-	6	1868	c.1741G>T	c.(1741-1743)Gcg>Tcg	p.A581S	LRP12_uc003ymb.3_Missense_Mutation_p.A562S|LRP12_uc003ylz.3_5'UTR	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	581					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GATCGTACCGCTAGCCTCAGA	0.358000														30			14		2.31682e-05	3.03046e-05	0.003163	1	0
CEACAM5	1048	broad.mit.edu	37	19	42218946	42218946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:42218946G>A	uc002orl.3	+	2	602	c.481G>A	c.(481-483)Gat>Aat	p.D161N	CEACAM5_uc010ehz.1_Missense_Mutation_p.D161N|CEACAM5_uc002orj.1_Missense_Mutation_p.D161N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	161	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGAGGACAAGGATGCTGTGGC	0.572000														86			23		0	0	0.003954	0	0
NDUFS5	4725	broad.mit.edu	37	1	39500128	39500128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:39500128C>T	uc001ccx.3	+	2	391	c.281C>T	c.(280-282)cCt>cTt	p.P94L	NDUFS5_uc001ccy.3_Missense_Mutation_p.P94L	NM_004552	NP_004543	O43920	NDUS5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) (NDUFS5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	AAGTACACCCCTCCACCTCAC	0.512000														26			10		0	0	0.000673	0	0
ADCY5	111	broad.mit.edu	37	3	123166728	123166728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123166728G>A	uc003egh.2	-	0	665	c.665C>T	c.(664-666)cCg>cTg	p.P222L		NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	222					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTTGTCCGACGGGAACTTCTT	0.672000														31			4		0	0	0.000602	0	0
CACNA1S	779	broad.mit.edu	37	1	201043645	201043645	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:201043645C>T	uc001gvv.3	-	13	2279	c.2052G>A	c.(2050-2052)agG>agA	p.R684R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	684					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGACATCTTCCTGCGTTTTT	0.582000														9			7		0	0	0.004482	0	0
EML1	2009	broad.mit.edu	37	14	100377902	100377902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:100377902C>T	uc001ygr.3	+	13	1609	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	EML1_uc010tww.2_Missense_Mutation_p.R483C|EML1_uc001ygq.3_Missense_Mutation_p.R514C|EML1_uc001ygs.3_Missense_Mutation_p.R495C	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	495						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCAAAAACTTCGTAAAACGGA	0.368000														26			23		0	0	0.003330	0	0
RET	5979	broad.mit.edu	37	10	43596017	43596017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:43596017G>A	uc001jal.3	+	1	374	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RET_uc001jak.1_Missense_Mutation_p.E62K	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	62					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCCCCTGAGGAGGTGCCCAG	0.632000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					21			16		0	0	0.006122	0	0
DLG5	9231	broad.mit.edu	37	10	79570914	79570914	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:79570914G>A	uc001jzk.3	-	22	4471	c.4401C>T	c.(4399-4401)atC>atT	p.I1467I	DLG5_uc001jzi.3_Silent_p.I222I|DLG5_uc001jzj.3_Silent_p.I882I|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1467					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCAGTGGGTCGATGACAGATG	0.657000														22			27		0	0	0.001512	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632249	156632249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:156632249G>A	uc003iov.3	+	6	1468	c.932G>A	c.(931-933)aGg>aAg	p.R311K	GUCY1A3_uc003iou.2_Missense_Mutation_p.R311K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.R311K|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R310K|GUCY1A3_uc003iow.3_Missense_Mutation_p.R311K|GUCY1A3_uc003iox.3_Missense_Mutation_p.R311K|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R76K|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R311K|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R76K|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R311K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	311					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATGAACAGGAGAGACTTT	0.383000														26			6		0	0	0.001168	0	0
REV1	51455	broad.mit.edu	37	2	100058806	100058806	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:100058806T>C	uc002tad.3	-	4	688	c.476A>G	c.(475-477)aAt>aGt	p.N159S	REV1_uc002tac.3_Missense_Mutation_p.N159S|REV1_uc002tae.1_Missense_Mutation_p.N138S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	159					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding	p.N159Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGGCTATATTGCTTGGACC	0.418000								Direct reversal of damage						25			35		0	0	0.001951	0	0
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:34263626C>T	uc002nus.4	+	4	1438	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_uc002nut.4_Silent_p.F311F|CHST8_uc002nuu.3_Silent_p.F311F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	311					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652000														31			29		0	0	0.001786	0	0
C15orf43	145645	broad.mit.edu	37	15	45270688	45270689	+	Missense_Mutation	DNP	TT	GG	GG			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45270688_45270689TT>GG	uc001zuk.3	+	6	539_540	c.525_526TT>GG	c.(523-528)ggttat>ggGGat	p.Y176D		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	176										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ATTTTGTAGGTTATATATCAAT	0.297000														42			16		0	0	0.004672	0	0
RECQL5	9400	broad.mit.edu	37	17	73658888	73658888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:73658888G>A	uc010dgl.3	-	3	651	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	RECQL5_uc010dgk.3_Missense_Mutation_p.R121C|RECQL5_uc002joz.4_Missense_Mutation_p.R148C|RECQL5_uc002jpa.4_Missense_Mutation_p.R148C|RECQL5_uc002jpb.2_Missense_Mutation_p.R148C	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	148	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCAGGTGGCGGGACACCAGG	0.567000								Other identified genes with known or suspected DNA repair function						193			85		0	0	0.003610	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647725	51647725	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51647725C>T	uc002pvv.1	+	1	565	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	166	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTTCCAGAATCTGACCTGCTC	0.632000														48			64		0	0	0.003610	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398358	23398358	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:23398358C>T	uc004dal.4	+	1	1010	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	PTCHD1_uc010nfu.2_Silent_p.F334F	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	334	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAGTCCCTTTCGTCATGCTAG	0.483000														57			23		0	0	0.003330	0	0
ZNF638	27332	broad.mit.edu	37	2	71577112	71577112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:71577112C>T	uc002shx.3	+	1	1351	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF638_uc010fec.2_Missense_Mutation_p.S449L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.S343L|ZNF638_uc002shz.3_Missense_Mutation_p.S343L|ZNF638_uc002shy.3_Missense_Mutation_p.S343L|ZNF638_uc002sia.3_Missense_Mutation_p.S343L|ZNF638_uc002sib.1_Missense_Mutation_p.S343L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	343					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATTAATTTCATCTGTAAGC	0.408000														43			30		0	0	0.001512	0	0
SETD1A	9739	broad.mit.edu	37	16	30977223	30977223	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30977223G>C	uc002ead.1	+	7	2707	c.2021G>C	c.(2020-2022)gGa>gCa	p.G674A		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCTCAGTGGGGAGGGATGCCC	0.632000														104			43		0	0	0.002522	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	C	C	rs111563615		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:39316570T>C	uc002hwc.3	-	0	414	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament		p.Y125*(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667000														64			4		0	0	0.000248	0	0
ABCC1	4363	broad.mit.edu	37	16	16225793	16225793	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:16225793G>A	uc010bvi.3	+	27	4141	c.3966_splice	c.e27+1	p.K1322_splice	ABCC1_uc010bvj.3_Splice_Site_p.K1263_splice|ABCC1_uc010bvk.3_Splice_Site_p.K1266_splice|ABCC1_uc010bvl.3_Splice_Site_p.K1322_splice|ABCC1_uc010bvm.3_Splice_Site_p.K1207_splice|ABCC1_uc002del.4_Splice_Site_p.K1216_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1322	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGAGAAAAGGTGGGTACACA	0.602000														23			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179433237	179433237	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179433237A>G	uc021vsy.1	-	274	70143	c.69918T>C	c.(69916-69918)aaT>aaC	p.N23306N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.N17001N|TTN_uc021vta.1_Silent_p.N16934N|TTN_uc021vtb.1_Silent_p.N16809N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24233	Fibronectin type-III 69.		R -> C.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCAACAACATTGGCAACTG	0.398000														25			13		0	0	0.001855	0	0
PAPL	390928	broad.mit.edu	37	19	39597622	39597622	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:39597622C>T	uc002oki.3	+	11	1423	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	383						extracellular region	acid phosphatase activity|metal ion binding										TTGCTGTCTTCCCGAGGCCCT	0.642000														11			22		0	0	0.001882	0	0
NSD1	64324	broad.mit.edu	37	5	176719085	176719086	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:176719085_176719086TC>CT	uc003mfr.4	+	21	6527_6528	c.6389_6390TC>CT	c.(6388-6390)ctc>cCT	p.L2130P	NSD1_uc003mft.4_Missense_Mutation_p.L1861P|NSD1_uc011dfx.2_Missense_Mutation_p.L1778P|NSD1_uc021yip.1_5'UTR	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2130					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGGCCAGCTCGTCTCCTGCA	0.505000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				6			6		0	0	0.004672	0	0
LRP2	4036	broad.mit.edu	37	2	170145580	170145580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:170145580G>A	uc002ues.3	-	8	1211	c.998C>T	c.(997-999)cCc>cTc	p.P333L	LRP2_uc010zdf.1_Missense_Mutation_p.P333L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	333	EGF-like 1.				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)	ATAACCTGGGGGACAAAAACA	0.493000														50			28		0	0	0.006320	0	0
STYX	6815	broad.mit.edu	37	14	53223323	53223323	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:53223323C>T	uc010tqy.2	+	5	359	c.297C>T	c.(295-297)ttC>ttT	p.F99F	STYX_uc001xaa.3_Silent_p.F99F	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN	Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.	99	Tyrosine-protein phosphatase.				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TACGTTTTTTCCCTATGGTAG	0.234000														25			19		0	0	0.007413	0	0
CERKL	375298	broad.mit.edu	37	2	182403982	182403982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:182403982G>A	uc002unx.3	-	12	1554	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.P459S|CERKL_uc010zfm.2_Missense_Mutation_p.P441S|CERKL_uc002unz.3_Missense_Mutation_p.P207S|CERKL_uc002uoa.3_Missense_Mutation_p.P390S|CERKL_uc002uob.3_Missense_Mutation_p.P207S|CERKL_uc002uoc.3_Missense_Mutation_p.P346S|CERKL_uc021vth.1_Missense_Mutation_p.P254S|CERKL_uc021vti.1_Missense_Mutation_p.P207S|CERKL_uc021vtj.1_Missense_Mutation_p.P162S|CERKL_uc021vtk.1_Missense_Mutation_p.P207S|CERKL_uc021vtl.1_Missense_Mutation_p.P162S|CERKL_uc021vtm.1_Missense_Mutation_p.P254S|CERKL_uc002uod.2_Missense_Mutation_p.P254S|CERKL_uc002unw.3_Missense_Mutation_p.P55S	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.E484A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCAACAAATGGAAAATTGAAC	0.353000														21			12		0	0	0.001368	0	0
ALG13	79868	broad.mit.edu	37	X	110968239	110968239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:110968239G>A	uc011msy.2	+	14	1780	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	ALG13_uc011msx.2_Missense_Mutation_p.R456Q|ALG13_uc011msz.2_Missense_Mutation_p.R482Q|ALG13_uc011mta.2_Missense_Mutation_p.R456Q|ALG13_uc011mtb.2_Missense_Mutation_p.R456Q	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	560					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						ATGCCCAGTCGGAAAGGAAGA	0.433000														37			17		0	0	0.006122	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423572	142423572	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142423572G>A	uc010lol.1	+	1	261	c.228G>A	c.(226-228)aaG>aaA	p.K76K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CGACTGATAAGGGAGATGTTC	0.483000														12			30		0	0	0.001786	0	0
OLFM3	118427	broad.mit.edu	37	1	102270231	102270231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:102270231G>A	uc001duf.2	-	5	1071	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	OLFM3_uc001dug.2_Missense_Mutation_p.H314Y|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.H239Y|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	334	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAAACATTATGAAAACCAGCA	0.443000														2			7		0	0	0.001984	0	0
DNAJC6	9829	broad.mit.edu	37	1	65878698	65878698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:65878698C>T	uc001dce.1	+	18	3104	c.2903C>T	c.(2902-2904)cCc>cTc	p.P968L	DNAJC6_uc001dcd.1_Missense_Mutation_p.P911L|DNAJC6_uc010opc.1_Missense_Mutation_p.P898L	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	911					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGCCAAAAGCCCTTATATTAA	0.418000														43			38		0	0	0.004878	0	0
GTPBP3	84705	broad.mit.edu	37	19	17450003	17450003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17450003C>T	uc002ngg.4	+	4	927	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	GTPBP3_uc010xpo.2_Missense_Mutation_p.L268F|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.L246F|GTPBP3_uc002ngh.4_Missense_Mutation_p.L246F	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	246					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGGGCAGAGGCTCCGCTCAGG	0.657000														51			5		0	0	0.000602	0	0
POU1F1	5449	broad.mit.edu	37	3	87310438	87310438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:87310438C>T	uc010hoj.1	-	4	853	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	POU1F1_uc003dqq.1_Missense_Mutation_p.R217Q	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	217					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217Q(2)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGTTGTTCTTCGTTTTCTTTT	0.289000														6			9		0	0	0.000978	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739113	15739113	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15739113G>A	uc002nbi.3	+	11	1177	c.1113_splice	c.e11-1	p.W371_splice	CYP4F8_uc010xoj.2_Splice_Site_p.W184_splice	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	372					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTCCTTAGGGACGACCTGGC	0.602000														92			23		0	0	0.003954	0	0
POSTN	10631	broad.mit.edu	37	13	38166278	38166279	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:38166278_38166279GG>AA	uc001uwo.4	-	2	359_360	c.241_242CC>TT	c.(241-243)cct>TTt	p.P81F	POSTN_uc001uwp.4_Missense_Mutation_p.P81F|POSTN_uc001uwr.3_Missense_Mutation_p.P81F|POSTN_uc001uwq.3_Missense_Mutation_p.P81F|POSTN_uc010teu.1_Missense_Mutation_p.P81F|POSTN_uc010tev.1_Missense_Mutation_p.P81F|POSTN_uc010tew.1_Missense_Mutation_p.P81F|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	81	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATATAACCAGGGCAACATTCA	0.297000														26			5		0	0	0.004672	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121975	73121975	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:73121975C>T	uc001jrr.4	+	5	1095	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Silent_p.F200F|SLC29A3_uc001jrt.4_Silent_p.F140F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	346					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCAAGTTTTTCATCCCCCTCA	0.577000														82			18		0	0	0.001523	0	0
DONSON	29980	broad.mit.edu	37	21	34958483	34958483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:34958483G>A	uc002ysk.3	-	2	727	c.407C>T	c.(406-408)tCa>tTa	p.S136L	DONSON_uc002ysn.1_Missense_Mutation_p.S19L|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.3_5'UTR|DONSON_uc002ysm.3_Missense_Mutation_p.S136L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	136					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGATACATGTGAAGTCTTTAG	0.358000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		15			8		0	0	0.003080	0	0
DMBX1	127343	broad.mit.edu	37	1	46978015	46978015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:46978015G>A	uc001cpx.3	+	3	1013	c.998G>A	c.(997-999)gGt>gAt	p.G333D	DMBX1_uc001cpw.3_Missense_Mutation_p.G328D	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	333					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCCCACCAGGGTGTGTGGGGG	0.642000														19			10		0	0	0.006214	0	0
MST1P2	11209	broad.mit.edu	37	1	16975920	16975920	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:16975920C>T	uc010och.2	+	10		c.1942C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CACCCTGTTCCAGAACCCACA	0.582000														69			10		0	0	0.002450	0	0
FABP5	2171	broad.mit.edu	37	8	82195725	82195726	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:82195725_82195726CC>TT	uc003yca.2	+	1	317_318	c.204_205CC>TT	c.(202-207)accctg>acTTtg	p.68_69TL>TL		NM_001444	NP_001435	Q01469	FABP5_HUMAN	Homo sapiens fatty acid binding protein 5 (psoriasis-associated) (FABP5), mRNA.	68					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			TTTCTTGTACCCTGGGAGAGAA	0.421000														8			14		0	0	0.004672	0	0
GLI3	2737	broad.mit.edu	37	7	42005576	42005576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:42005576G>A	uc011kbh.2	-	14	3186	c.3095C>T	c.(3094-3096)cCc>cTc	p.P1032L	GLI3_uc011kbg.2_Missense_Mutation_p.P973L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1032					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CATCGCCGGGGGGTTGCAGCT	0.706000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					28			8		0	0	0.003080	0	0
CDCP1	64866	broad.mit.edu	37	3	45153707	45153707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:45153707C>T	uc003com.3	-	2	658	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CDCP1_uc003con.3_Missense_Mutation_p.G175R	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	175						extracellular region|integral to membrane|plasma membrane		p.G175E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGAAGGTTCCGATCCTGACC	0.582000														30			75		0	0	0.003610	0	0
WDR91	29062	broad.mit.edu	37	7	134896318	134896318	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:134896318G>A	uc003vsp.2	-	1	1	c.-61_splice	c.e1-1			NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGGGAGAAATGGGGCGGGGCC	0.756000														18			35		0	0	0.004878	0	0
SMOC1	64093	broad.mit.edu	37	14	70420177	70420177	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:70420177C>T	uc001xlt.2	+	2	588	c.306C>T	c.(304-306)gcC>gcT	p.A102A	SMOC1_uc001xls.2_Silent_p.A102A	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	102	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGGCTCAAGCCCTGGAGCAAG	0.572000														53			26		0	0	0.006320	0	0
HYDIN	54768	broad.mit.edu	37	16	70928360	70928360	+	Silent	SNP	G	A	A	rs78212832		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:70928360G>A	uc002ezr.3	-	54	9388	c.9237C>T	c.(9235-9237)atC>atT	p.I3079I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3080										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTGAACGCGATCTCATATT	0.522000														14			9		0	0	0.003163	0	0
CHRM1	1128	broad.mit.edu	37	11	62678024	62678024	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62678024G>A	uc021qko.1	-	0	549	c.549C>T	c.(547-549)ctC>ctT	p.L183L	CHRM1_uc001nwi.3_Silent_p.L183L	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	183					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TGGGCTGGGAGAGGAACTGGA	0.592000														16			7		0	0	0.001984	0	0
ZNF552	79818	broad.mit.edu	37	19	58319928	58319928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:58319928G>A	uc002qqg.3	-	2	874	c.704C>T	c.(703-705)cCt>cTt	p.P235L	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Missense_Mutation_p.P231L	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTCTTCTGTAGGGAGCAGTCT	0.428000														8			33		0	0	0.002836	0	0
KAT2B	8850	broad.mit.edu	37	3	20168949	20168949	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:20168949C>G	uc003cbq.3	+	10	2103	c.1657C>G	c.(1657-1659)Cgt>Ggt	p.R553G		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	553	N-acetyltransferase.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TAAAGATGGCCGTGTTATTGG	0.368000														72			15		0	0	0.004007	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17167466	17167466	+	Silent	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:17167466C>G	uc001mmq.4	-	5	1649	c.1584G>C	c.(1582-1584)gtG>gtC	p.V528V	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.V148V|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Silent_p.V528V|PIK3C2A_uc009ygv.1_Silent_p.V528V	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	528					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGTTTAAATCCACGGGTGTTT	0.328000														40			20		0	0	0.001882	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687779	27687779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:27687779G>A	uc001itu.2	-	3	1866	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	583					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAACTTATTGGATGGATATC	0.378000														9			12		0	0	0.000978	0	0
MYH4	4622	broad.mit.edu	37	17	10358010	10358010	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:10358010C>T	uc002gmn.3	-	21	2664	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	851					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCATCTCCTTCTCTGTCT	0.443000														19			50		0	0	0.003610	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765618	101765618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:101765618C>T	uc001pgl.3	-	7	1435	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	280	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACCAGCATTTCCTGAATACCG	0.294000														15			6		0	0	0.001984	0	0
BCAM	4059	broad.mit.edu	37	19	45321793	45321793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45321793G>A	uc002ozu.3	+	8	1137	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	BCAM_uc002ozt.1_Missense_Mutation_p.E365K	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	365	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGACCCCCTGGAGCTCAGCGA	0.627000														70			20		0	0	0.001882	0	0
CACNA1I	8911	broad.mit.edu	37	22	40076988	40076988	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40076988C>T	uc003ayc.3	+	33	5595	c.5595C>T	c.(5593-5595)tcC>tcT	p.S1865S	CACNA1I_uc003ayd.3_Silent_p.S1830S|CACNA1I_uc003aye.3_Silent_p.S1780S|CACNA1I_uc003ayf.3_Silent_p.S1745S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1865					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTCCTCGTCCATCCTGCTGG	0.657000														22			42		0	0	0.001951	0	0
FRAS1	80144	broad.mit.edu	37	4	79369291	79369291	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:79369291A>T	uc003hlb.2	+	43	6535	c.6095A>T	c.(6094-6096)gAt>gTt	p.D2032V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2031					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCTACCAGGATATCCTAGCT	0.547000														9			8		0	0	0.004482	0	0
NYAP1	222950	broad.mit.edu	37	7	100085872	100085872	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100085872C>T	uc003uvd.1	+	3	687	c.528C>T	c.(526-528)ttC>ttT	p.F176F	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	176																	CTGTCTCCTTCGATGAGTCCT	0.657000														59			87		0	0	0.003610	0	0
PTGS1	5742	broad.mit.edu	37	9	125140266	125140266	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125140266G>A	uc004bmg.1	+	2	318	c.183G>A	c.(181-183)acG>acA	p.T61T	PTGS1_uc011lys.1_Silent_p.T36T|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.T61T|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	61	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.T61T(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GCACCCGCACGGGCTATTCCG	0.612000														7			24		0	0	0.003954	0	0
SMTN	6525	broad.mit.edu	37	22	31486981	31486981	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:31486981C>T	uc003ajl.2	+	9	1213	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SMTN_uc003ajk.2_Silent_p.F324F|SMTN_uc003ajm.2_Silent_p.F324F|SMTN_uc011ale.2_Silent_p.F378F|SMTN_uc011alf.2_Silent_p.F380F|SMTN_uc003ajn.2_Silent_p.F316F|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	324					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCCTCATTCCAGCGGGCTG	0.602000														34			61		0	0	0.003610	0	0
OR51B2	79345	broad.mit.edu	37	11	5345204	5345204	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5345204C>T	uc001mao.1	-	0	379	c.324G>A	c.(322-324)gtG>gtA	p.V108V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCTGATTCCACAACAGAAA	0.463000														12			5		0	0	0.000602	0	0
OR6C76	390326	broad.mit.edu	37	12	55820678	55820678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55820678C>T	uc010spm.2	+	0	641	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAATTCTCTCCTATACTTAC	0.378000														3			9		0	0	0.006214	0	0
OR4K14	122740	broad.mit.edu	37	14	20483167	20483167	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20483167G>A	uc010tky.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCCCCAGCAGGAAGTACATAG	0.468000														14			9		0	0	0.004482	0	0
PPP4R4	57718	broad.mit.edu	37	14	94716540	94716540	+	Missense_Mutation	SNP	G	A	A	rs149950607		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:94716540G>A	uc001ycs.1	+	14	1797	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	548						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R548Q(4)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCGGCTTCACGAACTCTATGC	0.353000														15			12		0	0	0.002450	0	0
ZNF579	163033	broad.mit.edu	37	19	56090040	56090040	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56090040G>A	uc002qlh.3	-	1	1019	c.966C>T	c.(964-966)ccC>ccT	p.P322P	ZNF579_uc021vby.1_Silent_p.P322P	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCAGGCTGAGGGGGCCGTGGA	0.751000														27			8		0	0	0.003080	0	0
AMICA1	120425	broad.mit.edu	37	11	118071218	118071218	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:118071218C>T	uc001psk.2	-	6	1056	c.882G>A	c.(880-882)ttG>ttA	p.L294L	AMICA1_uc001psg.2_Silent_p.L104L|AMICA1_uc001psh.2_Silent_p.L255L|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.L284L|AMICA1_uc010rxw.1_Silent_p.L255L|AMICA1_uc010rxx.1_Silent_p.L294L|AMICA1_uc001psl.1_Silent_p.L250L	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	294					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.S294I(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTCACGATCAATATCAGAA	0.552000														23			13		0	0	0.002450	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900008	151900008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151900008C>T	uc022chj.1	-	0	793	c.793G>A	c.(793-795)Gat>Aat	p.D265N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.D265N|MAGEA12_uc022chi.1_Missense_Mutation_p.D265N|MAGEA12_uc004fgc.3_Missense_Mutation_p.D265N	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	265	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCAGGATCACTGCCGGGG	0.552000														77			30		0	0	0.001786	0	0
TYW1	55253	broad.mit.edu	37	7	66548429	66548429	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:66548429C>T	uc003tvn.3	+	10	1436	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Silent_p.N43N	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	429					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACCACACCAACCCCGTGGGCA	0.418000														55			14		0	0	0.002450	0	0
FBN3	84467	broad.mit.edu	37	19	8137016	8137016	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:8137016G>A	uc002mjf.3	-	61	8021	c.8004C>T	c.(8002-8004)ctC>ctT	p.L2668L	FBN3_uc002mje.3_Silent_p.L464L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2668						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTCAGACGAGAGCAGCTCCT	0.657000														68			87		0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240256706	240256706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:240256706C>T	uc010pye.2	+	0	1522	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	FMN2_uc010pyd.2_Missense_Mutation_p.P433S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	433					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAATCACTCCCCGTCTCAGTC	0.672000														28			30		0	0	0.004289	0	0
CTCFL	140690	broad.mit.edu	37	20	56078532	56078532	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:56078532C>T	uc010giw.1	-	9	1911	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	CTCFL_uc010gix.1_Silent_p.K600K|CTCFL_uc002xym.2_Silent_p.K600K|CTCFL_uc010gjb.1_Silent_p.K600K|CTCFL_uc010gja.1_Silent_p.K550K|CTCFL_uc010gjc.1_Silent_p.K600K|CTCFL_uc010gjd.1_Silent_p.K600K|CTCFL_uc010gje.3_Silent_p.K600K|CTCFL_uc010gjg.3_Silent_p.K332K|CTCFL_uc010gjf.3_Silent_p.K395K|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	600					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCGCAGCTTCCTTCTGACCCT	0.498000														113			83		0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19398347	19398347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:19398347C>T	uc022btq.1	-	18	2480	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	MAP3K15_uc004czj.2_Missense_Mutation_p.G262E|MAP3K15_uc004czk.2_Missense_Mutation_p.G302E	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	827	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGCACCATATCCGCGAGGCCC	0.547000														4			6		0	0	0.001168	0	0
NCOA3	8202	broad.mit.edu	37	20	46256463	46256463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:46256463C>T	uc002xtk.3	+	6	952	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	NCOA3_uc002xtl.3_Nonsense_Mutation_p.Q231*|NCOA3_uc002xtn.3_Nonsense_Mutation_p.Q231*|NCOA3_uc010ght.2_Nonsense_Mutation_p.Q231*|NCOA3_uc002xtm.3_Nonsense_Mutation_p.Q231*|NCOA3_uc010zyc.2_Nonsense_Mutation_p.Q33*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	231					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCTGTCTCAGCCACGAGC	0.423000														60			23		0	0	0.003330	0	0
PTPRT	11122	broad.mit.edu	37	20	41076908	41076908	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:41076908G>A	uc002xkg.3	-	8	1696	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	PTPRT_uc010ggj.3_Silent_p.I504I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	504	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTTCCACTGGATGTAGATCT	0.483000														97			64		0	0	0.003610	0	0
OR6C4	341418	broad.mit.edu	37	12	55945754	55945754	+	Silent	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55945754C>G	uc010spp.2	+	0	744	c.744C>G	c.(742-744)ctC>ctG	p.L248L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TCATCTCCCTCTCTTATGGCA	0.433000														12			29		0	0	0.002836	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313582	233313582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233313582G>A	uc001hvl.2	-	16	3474	c.3239C>T	c.(3238-3240)gCt>gTt	p.A1080V	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1080						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGAGGGTCAGCAGCTGACTC	0.433000														15			21		0	0	0.003954	0	0
MAP3K11	4296	broad.mit.edu	37	11	65374967	65374967	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:65374967C>T	uc001oew.3	-	4	1756	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.E164E|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	421	Leucine-zipper 1.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TCAGCTCCTCCTCGCGGCTCA	0.711000														10			7		0	0	0.004482	0	0
GNL1	2794	broad.mit.edu	37	6	30520350	30520350	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30520350C>T	uc003nqh.3	-	7	2384	c.993G>A	c.(991-993)gaG>gaA	p.E331E	GNL1_uc011dmi.2_Intron|GNL1_uc011dmj.2_Silent_p.E329E|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	331					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGGCCATCCTCCTCTTCCT	0.602000														33			26		0	0	0.003954	0	0
FER1L5	90342	broad.mit.edu	37	2	97363282	97363282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:97363282G>A	uc010fia.3	+	36	4184	c.4184G>A	c.(4183-4185)aGa>aAa	p.R1395K	FER1L5_uc002sws.4_Missense_Mutation_p.R113K|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Missense_Mutation_p.R112K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1395						integral to membrane		p.Y1394Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TACCTCTACAGAAAGTTCTGG	0.562000														15			11		0	0	0.001855	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120101	103120101	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:103120101C>T	uc002tbz.4	+	2	1372	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	305					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCCACTCATCGTCTTCATGT	0.428000														34			33		0	0	0.003271	0	0
ACTL9	284382	broad.mit.edu	37	19	8808059	8808059	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:8808059G>A	uc002mkl.2	-	0	1114	c.993C>T	c.(991-993)cgC>cgT	p.R331R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	331						cytoplasm|cytoskeleton		p.R331H(2)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCAAGTCCGCGCGCATCTCCA	0.667000														46			14		0	0	0.003163	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:111155953C>T	uc004epl.1	-	2	1385	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TRPC5_uc004epm.1_Missense_Mutation_p.E156K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(4)|p.Y155*(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000														42			44		0	0	0.002522	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044191	71044191	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:71044191T>G	uc002shf.3	-	3	399	c.322A>C	c.(322-324)Aaa>Caa	p.K108Q	CLEC4F_uc010yqv.1_Missense_Mutation_p.K108Q	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	108					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGTGGCCTTTAAATGTCTGG	0.498000														25			23		0	0	0.002299	0	0
ENPP3	5169	broad.mit.edu	37	6	131971266	131971266	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:131971266T>C	uc003qcu.4	+	3	601	c.254T>C	c.(253-255)tTt>tCt	p.F85S	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.F51S|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.F85S|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	85	SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TGCTGGGATTTTGAAGACACC	0.403000														48			35		0	0	0.007835	0	0
CACNA1E	777	broad.mit.edu	37	1	181754549	181754549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:181754549G>A	uc009wxt.3	+	41	5869	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1892K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1873K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1892					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCTGGAGGAACAGGTGAA	0.537000														4			3		0	0	0.004672	0	0
PRSS36	146547	broad.mit.edu	37	16	31151832	31151832	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:31151832C>T	uc002ebd.3	-	12	2207	c.2148G>A	c.(2146-2148)tgG>tgA	p.W716*	PRSS36_uc010vff.2_Nonsense_Mutation_p.W491*|PRSS36_uc010vfg.2_Nonsense_Mutation_p.W711*|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	716	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGGTTCTTTCCAGCCCAACA	0.667000														33			12		0	0	0.000978	0	0
UBE3A	7337	broad.mit.edu	37	15	25616063	25616063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:25616063G>A	uc001zaq.3	-	6	2027	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.P400S|UBE3A_uc001zas.3_Missense_Mutation_p.P420S|UBE3A_uc001zat.3_Missense_Mutation_p.P400S	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	423	Interaction with HCV core protein.			P -> L (in Ref. 7; AAA35542).	brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCCACTCGAGGACCTTTCTTG	0.433000														9			24		0	0	0.003330	0	0
AGBL5	60509	broad.mit.edu	37	2	27279611	27279611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27279611G>A	uc002rie.3	+	7	1703	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	AGBL5_uc002rid.3_Missense_Mutation_p.E496K|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	496					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTCTAAAGAGGGAAGCGG	0.468000														88			74		0	0	0.003610	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928204	21928204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:21928204G>A	uc001bev.3	-	17	1898	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	RAP1GAP_uc001bew.3_Missense_Mutation_p.S606F|RAP1GAP_uc001bey.3_Missense_Mutation_p.S568F|RAP1GAP_uc001bex.3_Missense_Mutation_p.S542F	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	542					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CATCTCTGGGGAGCTCTGAGT	0.667000														21			35		0	0	0.004878	0	0
PPYR1	5540	broad.mit.edu	37	10	47087776	47087776	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:47087776G>A	uc001jee.3	+	2	1412	c.993G>A	c.(991-993)aaG>aaA	p.K331K	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.K331K|PPYR1_uc021ppu.1_Silent_p.K331K	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	331					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTTCAAGAAGGAGATCAAGG	0.562000														58			11		0	0	0.000673	0	0
CRTAM	56253	broad.mit.edu	37	11	122720866	122720866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:122720866C>T	uc001pyj.3	+	1	137	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	46	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGGAAGAACTCCTCCCTCCAG	0.483000														20			9		0	0	0.004482	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349217	55349217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55349217C>T	uc002qhm.1	+	2	303	c.257C>T	c.(256-258)tCc>tTc	p.S86F	KIR3DL2_uc010yfj.2_Missense_Mutation_p.S79F|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.S86F|KIR3DL2_uc002qhn.1_Missense_Mutation_p.S33F	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	181	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.S86Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCCAACTTCTCCATTGGTCCC	0.517000														85			141		0	0	0.003610	0	0
TIE1	7075	broad.mit.edu	37	1	43779609	43779609	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:43779609G>A	uc001ciu.3	+	13	2556	c.2379G>A	c.(2377-2379)cgG>cgA	p.R793R	TIE1_uc010oke.2_Silent_p.R748R|TIE1_uc009vwq.3_Silent_p.R749R|TIE1_uc010okf.1_Silent_p.R438R|TIE1_uc010okg.2_Silent_p.R438R	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	793					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCTGCATCGGAGACGCACCT	0.612000														32			4		0	0	0.000248	0	0
ALPK3	57538	broad.mit.edu	37	15	85402498	85402498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:85402498G>A	uc002ble.3	+	6	4615	c.4448G>A	c.(4447-4449)cGg>cAg	p.R1483Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1483	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.I1482N(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGAAGATTCGGGTGGAGCAG	0.567000														21			39		0	0	0.002222	0	0
DNAH8	1769	broad.mit.edu	37	6	38893853	38893853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:38893853G>A	uc021yzh.1	+	73	11094	c.10985G>A	c.(10984-10986)gGa>gAa	p.G3662E	DNAH8_uc003ooe.2_Missense_Mutation_p.G3445E|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGCTACAGGGATTACCAGGA	0.428000														14			85		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158622263	158622263	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158622263G>A	uc001fst.1	-	22	3568	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1123					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E1122G(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTTTTGGAACTCATCAA	0.393000														29			12		0	0	0.001368	0	0
RDH8	50700	broad.mit.edu	37	19	10124205	10124205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:10124205C>T	uc002mmr.3	+	0	281	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	11					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGTTGATCTCCGGCTGCTCA	0.607000														63			39		0	0	0.002522	0	0
MYO7B	4648	broad.mit.edu	37	2	128388855	128388855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:128388855C>T	uc002top.3	+	35	4987	c.4934C>T	c.(4933-4935)tCc>tTc	p.S1645F	MYO7B_uc002tor.1_Missense_Mutation_p.S498F	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1645	MyTH4 2.|SH3 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGGCCTATTCCTGCGAGCCG	0.642000														11			15		0	0	0.003163	0	0
VAV1	7409	broad.mit.edu	37	19	6848067	6848067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:6848067G>A	uc002mfu.1	+	22	2168	c.2071G>A	c.(2071-2073)Ggg>Agg	p.G691R	VAV1_uc010xjh.1_Missense_Mutation_p.G659R|VAV1_uc010dva.1_Missense_Mutation_p.G669R|VAV1_uc002mfv.1_Missense_Mutation_p.G636R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	691	SH2.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCGCTCGGACGGGACTTTCTT	0.597000														46			89		0	0	0.003610	0	0
OR13A1	79290	broad.mit.edu	37	10	45799154	45799154	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:45799154G>A	uc001jcc.1	-	3	1026	c.717C>T	c.(715-717)atC>atT	p.I239I	OR13A1_uc001jcd.1_Silent_p.I235I|OR13A1_uc021ppq.1_Silent_p.I239I	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I239I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCTGGAGACGATGAAGCCAT	0.557000														65			9		0	0	0.001368	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22134223G>A	uc010tmd.2	+	0	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000														12			11		0	0	0.000673	0	0
MARCH7	64844	broad.mit.edu	37	2	160599677	160599677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:160599677C>T	uc002uax.3	+	2	381	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	MARCH7_uc010foq.3_Missense_Mutation_p.H87Y|MARCH7_uc010zcn.2_Missense_Mutation_p.H87Y|MARCH7_uc010for.3_Missense_Mutation_p.H49Y	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	87	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GCAACGGGATCATGATTCAAA	0.418000														47			25		0	0	0.002780	0	0
AOC4	90586	broad.mit.edu	37	17	41019673	41019673	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:41019673C>T	uc002ibw.1	+	0	512	c.378C>T	c.(376-378)atC>atT	p.I126I	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		CACTGGCCATCGTCTTCTTTG	0.647000														3			28		0	0	0.007291	0	0
CLCN6	1185	broad.mit.edu	37	1	11898651	11898651	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:11898651C>T	uc001ate.4	+	21	2576	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	CLCN6_uc010oat.2_Silent_p.S537S|CLCN6_uc010oau.2_Silent_p.S799S|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	821	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACGTCTCCCAAGTCTTCA	0.612000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			15		0	0	0.003163	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12856020C>T	uc001auj.2	+	3	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	434										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.562000														133			25		0	0	0.005524	0	0
SLC30A9	10463	broad.mit.edu	37	4	42077787	42077787	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:42077787T>C	uc003gwl.3	+	15	1678	c.1532T>C	c.(1531-1533)tTt>tCt	p.F511S	SLC30A9_uc011byx.2_Missense_Mutation_p.F271S	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	511					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAACAAGATTTTGACCAAATG	0.294000														17			21		0	0	0.003954	0	0
FSTL5	56884	broad.mit.edu	37	4	162459346	162459346	+	Silent	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:162459346A>T	uc003iqh.3	-	9	1720	c.1284T>A	c.(1282-1284)ctT>ctA	p.L428L	FSTL5_uc003iqi.3_Silent_p.L427L|FSTL5_uc010iqv.3_Silent_p.L427L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	428						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCCACAAAAAGAGAAGAGA	0.408000														35			62		0	0	0.003610	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067130	18067130	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:18067130G>A	uc003stz.3	-	0	357	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	92					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GGGCATAAGGGAAGCATGGGA	0.468000														70			123		0	0	0.003610	0	0
FOXA2	3170	broad.mit.edu	37	20	22563463	22563463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:22563463C>T	uc002wsm.3	-	1	602	c.417G>A	c.(415-417)atG>atA	p.M139I	FOXA2_uc002wsn.3_Missense_Mutation_p.M133I	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	133					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ACATGGGGCTCATGGAGTTCA	0.716000														53			38		0	0	0.007835	0	0
NEFM	4741	broad.mit.edu	37	8	24775339	24775339	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24775339G>A	uc003xed.4	+	2	2004	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.P281P	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	657	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.P657P(2)|p.P657L(1)|p.P657Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCTGTGCCGAAATCACCAG	0.502000														42			79		0	0	0.003610	0	0
OR13C3	138803	broad.mit.edu	37	9	107298152	107298152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:107298152C>T	uc004bcb.1	-	0	943	c.943G>A	c.(943-945)Ggg>Agg	p.G315R		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTCACTACCCCATAAAACAGA	0.373000														13			35		0	0	0.003755	0	0
DAGLA	747	broad.mit.edu	37	11	61511320	61511320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:61511320G>A	uc001nsa.3	+	19	2604	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	830					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CATCCCCGAGGAAAACCCATC	0.667000														97			54		0	0	0.003610	0	0
BMP2K	55589	broad.mit.edu	37	4	79786837	79786837	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:79786837C>T	uc003hlk.3	+	9	1360	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Silent_p.V398V	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	398						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						CTGTTAAAGTCCTTGCTCCTG	0.438000														44			11		0	0	0.001855	0	0
DOCK6	57572	broad.mit.edu	37	19	11319778	11319778	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:11319778T>C	uc002mqs.4	-	38	4793	c.4752_splice	c.e38-1	p.R1584_splice	DOCK6_uc002mqr.4_Splice_Site|DOCK6_uc010xlq.2_Splice_Site_p.R923_splice	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1584	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCCGGGCAATTCTGGAGTCC	0.652000														9			18		0	0	0.001216	0	0
RFX6	222546	broad.mit.edu	37	6	117248384	117248384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:117248384C>T	uc003pxm.3	+	16	2143	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	694					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCAAGCCAATCATGACTTTTA	0.537000														39			25		0	0	0.003330	0	0
GABRP	2568	broad.mit.edu	37	5	170235689	170235689	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:170235689C>T	uc003mau.3	+	7	963	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GABRP_uc011dev.2_Silent_p.F255F	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	255						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCACTTTCCTGGTGGTGT	0.428000														25			17		0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11778373	11778373	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11778373G>A	uc002gne.3	+	52	10418	c.10350G>A	c.(10348-10350)gtG>gtA	p.V3450V	DNAH9_uc010coo.3_Silent_p.V2744V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3450	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCATGTCCGTGGAGAATGCCA	0.552000														25			26		0	0	0.003954	0	0
AQP8	343	broad.mit.edu	37	16	25239795	25239795	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:25239795C>T	uc002doc.3	+	5	850	c.768C>T	c.(766-768)ctC>ctT	p.L256L		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	256					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		AGACCCGCCTCATCCTGAAGG	0.582000														32			47		0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155311920	155311920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:155311920G>A	uc021xge.1	-	2	521	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	PLCH1_uc021xgd.1_Missense_Mutation_p.H82Y|PLCH1_uc021xgf.1_Missense_Mutation_p.H64Y	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	82	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTTGTCTGTGGAATATTTCA	0.493000														17			30		0	0	0.001512	0	0
DCLK3	85443	broad.mit.edu	37	3	36779465	36779465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36779465G>A	uc003cgi.2	-	1	1177	c.686C>T	c.(685-687)cCa>cTa	p.P229L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	229						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P229A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGATCCTCTGGGCCTCTGTC	0.572000														79			32		0	0	0.002445	0	0
CENPI	2491	broad.mit.edu	37	X	100382643	100382643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:100382643C>T	uc004egx.3	+	9	1333	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	CENPI_uc011mrg.2_Missense_Mutation_p.H355Y|CENPI_uc004egy.3_Missense_Mutation_p.H355Y	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	355					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ACAGAACATCCATTGCTTAGA	0.343000														50			40		0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109689948	109689948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:109689948C>T	uc004bcz.3	+	2	4044	c.3755C>T	c.(3754-3756)cCc>cTc	p.P1252L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P1100L|ZNF462_uc004bda.3_Missense_Mutation_p.P1100L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1252					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTGTCTCCCCCTCTAATCTG	0.527000														67			106		0	0	0.003610	0	0
GSDMA	284110	broad.mit.edu	37	17	38121985	38121985	+	Silent	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:38121985A>G	uc002htl.1	+	1	163	c.45A>G	c.(43-45)ctA>ctG	p.L15L	GSDMA_uc002htm.1_Silent_p.L15L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	15					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCAGACAGCTAAACCCTCGAG	0.572000														2			15		0	0	0.004990	0	0
FAM162A	26355	broad.mit.edu	37	3	122123196	122123196	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:122123196C>T	uc003eez.3	+	2	339	c.249C>T	c.(247-249)atC>atT	p.I83I	FAM162A_uc011bjq.1_Silent_p.I83I	NM_014367	NP_055182	Q96A26	F162A_HUMAN	Homo sapiens family with sequence similarity 162, member A (FAM162A), mRNA.	83						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AAGATGAAATCCCAGAGACTG	0.413000														16			36		0	0	0.004878	0	0
CNTN4	152330	broad.mit.edu	37	3	3081776	3081776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:3081776G>A	uc003bpc.3	+	19	2558	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R411Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R740Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R412Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R411Q|CNTN4_uc003bpg.3_5'UTR	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	740	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGGCCTTCCGGCCCTACGGT	0.512000														18			40		0	0	0.002222	0	0
PREX2	80243	broad.mit.edu	37	8	68992747	68992747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:68992747G>A	uc003xxv.1	+	15	1739	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	PREX2_uc003xxu.1_Missense_Mutation_p.G571E|PREX2_uc011lez.1_Missense_Mutation_p.G506E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	571					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAATGGAGGGATCAAATATG	0.308000														36			9		0	0	0.000673	0	0
PIGO	84720	broad.mit.edu	37	9	35089444	35089444	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:35089444G>A	uc003zwd.3	-	9	3469	c.3073C>T	c.(3073-3075)Ctg>Ttg	p.L1025L	PIGO_uc003zwe.3_Silent_p.L608L|PIGO_uc003zwf.3_Silent_p.L608L|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	1025					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCACAGGCCAGAATCTAGAGG	0.517000														56			56		0	0	0.003610	0	0
FAM217B	63939	broad.mit.edu	37	20	58519433	58519433	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:58519433C>T	uc021wft.1	+	0	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F	FAM217B_uc002yba.3_Silent_p.F145F|FAM217B_uc002ybc.3_Silent_p.F145F|FAM217B_uc010zzx.2_Intron	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	145																	ATCCTAATTTCCTTCCATCCC	0.483000														59			43		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415878	105415878	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:105415878C>T	uc010axc.1	-	6	6030	c.5910G>A	c.(5908-5910)ctG>ctA	p.L1970L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L1870L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1970						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCTCCCTCCAGCCGCGCAC	0.607000														143			139		0	0	0.003610	0	0
NLRP1	22861	broad.mit.edu	37	17	5461922	5461922	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:5461922C>T	uc002gci.3	-	3	2649	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	NLRP1_uc002gcg.1_Silent_p.R698R|NLRP1_uc002gch.4_Silent_p.R698R|NLRP1_uc002gck.3_Silent_p.R698R|NLRP1_uc002gcj.3_Silent_p.R698R|NLRP1_uc002gcl.3_Silent_p.R698R|NLRP1_uc010clh.3_Silent_p.R698R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	698					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCATCAGGTTCCTCCCCTGAG	0.557000														11			38		0	0	0.005524	0	0
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:23522420G>A	uc003jgo.3	+	6	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428000										HNSCC(3;0.000094)				75			58		0	0	0.003610	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150437980	150437980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150437980G>A	uc022apw.1	+	4	760	c.620G>A	c.(619-621)gGa>gAa	p.G207E	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G3E	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AGAATGGGAGGATTCCAGAGG	0.458000														40			7		0	0	0.003080	0	0
KNDC1	85442	broad.mit.edu	37	10	135015303	135015303	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:135015303C>T	uc001llz.1	+	16	3289	c.3288C>T	c.(3286-3288)gcC>gcT	p.A1096A	KNDC1_uc001lma.1_Silent_p.A1031A|KNDC1_uc001lmb.1_Silent_p.A508A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1096					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGTGCAGCGCCTTCTACGAGG	0.721000														5			4		0	0	0.001168	0	0
OR7D4	125958	broad.mit.edu	37	19	9324843	9324843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9324843G>A	uc002mla.2	-	0	705	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCCCATTAAGGAGGAGACAAT	0.502000														48			11		0	0	0.000673	0	0
NEB	4703	broad.mit.edu	37	2	152427047	152427047	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:152427047G>A	uc021vrb.1	-	78	12008	c.11979C>T	c.(11977-11979)atC>atT	p.I3993I	NEB_uc002txr.3_Silent_p.I459I|NEB_uc002txu.3_Silent_p.I5694I|NEB_uc021vrc.1_Silent_p.I5694I|NEB_uc010fnx.3_Silent_p.I3981I|NEB_uc021vrd.1_Silent_p.I3993I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3993					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)		TGGCAGCCTGGATGGGGATGG	0.498000														8			9		0	0	0.000978	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17981152	17981152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:17981152C>T	uc001ban.3	+	22	2575	c.2416C>T	c.(2416-2418)Cct>Tct	p.P806S	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P767S|ARHGEF10L_uc001bao.3_Missense_Mutation_p.P767S|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P762S|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P567S|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P579S|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P509S|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	806					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGTCCACAGTCCTGTCAACTG	0.592000														118			100		0	0	0.003610	0	0
USP31	57478	broad.mit.edu	37	16	23117550	23117550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:23117550G>A	uc002dll.3	-	3	937	c.937C>T	c.(937-939)Cct>Tct	p.P313S		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	313					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGGGGCAGAGGAATTGGCAAA	0.393000														32			17		0	0	0.001216	0	0
OR10H3	26532	broad.mit.edu	37	19	15852753	15852753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15852753C>T	uc010xoq.2	+	0	551	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGTGCTTTCCCTCTTGAAG	0.493000														73			23		0	0	0.002299	0	0
KDR	3791	broad.mit.edu	37	4	55964319	55964319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:55964319C>T	uc003has.3	-	16	2796	c.2494G>A	c.(2494-2496)Gac>Aac	p.D832N	KDR_uc003hat.1_Missense_Mutation_p.D832N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	832					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCAGCCGGTCTCTGGGGAAT	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				20			5		0	0	0.000602	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36407715	36407715	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:36407715C>T	uc021wdj.1	+	9	1100	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	CTNNBL1_uc002xhh.3_Nonsense_Mutation_p.Q150*|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Nonsense_Mutation_p.Q85*	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	337					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGAGGGTCTTCAGCTGATGAA	0.483000														55			43		0	0	0.003610	0	0
NRIP3	56675	broad.mit.edu	37	11	9009685	9009685	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:9009685T>A	uc001mhg.2	-	1	433	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	NRIP3_uc010rbu.1_Missense_Mutation_p.M107L	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	Homo sapiens nuclear receptor interacting protein 3 (NRIP3), mRNA.	107					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACCAAAATCATGTCATCCTCC	0.493000														23			14		0	0	0.003163	0	0
SENP3	26168	broad.mit.edu	37	17	7468318	7468318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:7468318C>T	uc002ghm.3	+	3	1281	c.998C>T	c.(997-999)cCc>cTc	p.P333L	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_Missense_Mutation_p.P168L	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	333					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCCTCATACCCCTCAGCACT	0.542000														5			16		0	0	0.001216	0	0
PTPRR	5801	broad.mit.edu	37	12	71094984	71094984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:71094984C>T	uc001swi.2	-	6	1541	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PTPRR_uc001swh.2_Missense_Mutation_p.R131Q|PTPRR_uc009zrs.3_Missense_Mutation_p.R170Q|PTPRR_uc010stq.2_Missense_Mutation_p.R264Q|PTPRR_uc010str.1_Missense_Mutation_p.R225Q	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	376					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGTGAGAATTCGGCTGGCTGA	0.463000														8			26		0	0	0.006320	0	0
METTL21A	151194	broad.mit.edu	37	2	208488982	208488982	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:208488982G>C	uc002vcf.2	-	1	278	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	METTL21A_uc002vce.3_Missense_Mutation_p.L40V|METTL21A_uc010fuk.1_Missense_Mutation_p.L40V|METTL21A_uc002vcg.3_Missense_Mutation_p.L40V	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	Homo sapiens methyltransferase like 21A (METTL21A), transcript variant 1, mRNA.	40						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCGACTCCCAGGTGTCTCCAG	0.483000														64			34		0	0	0.004878	0	0
IKZF3	22806	broad.mit.edu	37	17	37922397	37922397	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:37922397G>A	uc002hsu.3	-	7	1238	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	IKZF3_uc002htd.3_Silent_p.N358N|IKZF3_uc010cwd.3_Silent_p.N249N|IKZF3_uc002hsv.3_Silent_p.N319N|IKZF3_uc010cwe.3_Silent_p.N258N|IKZF3_uc010cwf.3_Silent_p.N210N|IKZF3_uc010cwg.3_Silent_p.N171N|IKZF3_uc002hsw.3_Silent_p.N353N|IKZF3_uc002hsx.3_Silent_p.N336N|IKZF3_uc002hsy.3_Silent_p.N353N|IKZF3_uc002hsz.3_Silent_p.N297N|IKZF3_uc002hta.3_Silent_p.N314N|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.N305N|IKZF3_uc002htc.3_Silent_p.N145N|IKZF3_uc010wel.2_Silent_p.N145N	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	392					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTTCTTCATGGTTGCTGTCAG	0.532000														23			117		0	0	0.003610	0	0
PAX6	5080	broad.mit.edu	37	11	31823165	31823165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:31823165C>T	uc009yjr.3	-	5	770	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PAX6_uc001mtd.4_Missense_Mutation_p.E101K|PAX6_uc001mte.4_Missense_Mutation_p.E101K|PAX6_uc001mtg.4_Missense_Mutation_p.E115K|PAX6_uc001mtf.4_Missense_Mutation_p.E101K|PAX6_uc001mth.4_Missense_Mutation_p.E101K|PAX6_uc021qfl.1_Missense_Mutation_p.E115K|PAX6_uc021qfm.1_Missense_Mutation_p.E115K|PAX6_uc021qfn.1_Missense_Mutation_p.E101K	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	101	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTCGGATTTCCCAAGCAAAG	0.507000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					48			29		0	0	0.004878	0	0
PTPRR	5801	broad.mit.edu	37	12	71094958	71094958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:71094958C>T	uc001swi.2	-	6	1567	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	PTPRR_uc001swh.2_Missense_Mutation_p.D140N|PTPRR_uc009zrs.3_Missense_Mutation_p.D179N|PTPRR_uc010stq.2_Missense_Mutation_p.D273N|PTPRR_uc010str.1_Missense_Mutation_p.D234N	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	385					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCCACGACGTCCCTCAGCTGA	0.458000														4			30		0	0	0.002445	0	0
STARD8	9754	broad.mit.edu	37	X	67943917	67943917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:67943917G>A	uc004dxb.3	+	13	3362	c.3148G>A	c.(3148-3150)Ggc>Agc	p.G1050S	STARD8_uc004dxa.3_Missense_Mutation_p.G970S|STARD8_uc004dxc.4_Missense_Mutation_p.G970S	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	970					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGCCTTGCGGCTTGGGCCG	0.642000														16			9		0	0	0.006214	0	0
NUF2	83540	broad.mit.edu	37	1	163310153	163310153	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:163310153G>A	uc001gcq.1	+	9	907	c.607_splice	c.e9-1	p.I203_splice	NUF2_uc001gcr.1_Splice_Site_p.I203_splice	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	203	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTTTCCCTTAGATAGTGCTGC	0.328000														39			29		0	0	0.001512	0	0
ZNF681	148213	broad.mit.edu	37	19	23927132	23927132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23927132G>A	uc002nrk.4	-	3	1362	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ZNF681_uc002nrl.4_Missense_Mutation_p.S338L|ZNF681_uc002nrj.4_Missense_Mutation_p.S338L	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S407L(2)|p.S338L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398000														20			11		0	0	0.000673	0	0
BACH1	571	broad.mit.edu	37	21	30693736	30693736	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:30693736C>T	uc002ynk.3	+	1	378	c.135C>T	c.(133-135)ttC>ttT	p.F45F	BACH1_uc002ynj.3_Silent_p.F45F|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	45	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACAGCGGTTCCGCGCTCACC	0.522000														42			11		0	0	0.000978	0	0
KDM2B	84678	broad.mit.edu	37	12	121880320	121880320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:121880320G>A	uc001uat.3	-	18	3028	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	KDM2B_uc010szy.2_Missense_Mutation_p.S415L|KDM2B_uc001uaq.3_Missense_Mutation_p.S415L|KDM2B_uc001uar.3_Missense_Mutation_p.S566L|KDM2B_uc001uas.3_Missense_Mutation_p.S906L|KDM2B_uc021rfd.1_Missense_Mutation_p.S906L|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.S975L|KDM2B_uc001uao.3_Missense_Mutation_p.S223L|KDM2B_uc010szx.2_Missense_Mutation_p.S223L|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	975					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCAGGCTCCGACTTGATGGG	0.667000														7			24		0	0	0.002780	0	0
SON	6651	broad.mit.edu	37	21	34922795	34922795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:34922795C>T	uc002yse.1	+	2	1307	c.1258C>T	c.(1258-1260)Ctt>Ttt	p.L420F	SON_uc002ysb.1_Missense_Mutation_p.L420F|SON_uc002ysc.3_Missense_Mutation_p.L420F|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.L66F|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	420					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCCAGGGCCCCTTTCTACCCC	0.647000														41			17		0	0	0.001523	0	0
NEBL	10529	broad.mit.edu	37	10	21112212	21112212	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:21112212C>T	uc001iqi.3	-	18	2284	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	629					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATGTTTAATCTCTTCTTTGT	0.289000														6			8		0	0	0.006214	0	0
TCRA	0	broad.mit.edu	37	14	22363073	22363073	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22363073G>A	uc021rpj.1	+	1	375	c.204G>A	c.(202-204)aaG>aaA	p.K68K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		TTCTCCTGAAGTACACATCAG	0.502000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			81		0	0	0.003610	0	0
COLQ	8292	broad.mit.edu	37	3	15516452	15516452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:15516452G>A	uc003bzx.3	-	7	661	c.535C>T	c.(535-537)Cct>Tct	p.P179S	COLQ_uc003bzv.3_Missense_Mutation_p.P169S|COLQ_uc010heo.3_Missense_Mutation_p.P145S|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.P38S	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	179	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CTGGATCCAGGGTAGCCCTAA	0.483000														94			15		0	0	0.004007	0	0
LRIG3	121227	broad.mit.edu	37	12	59271541	59271541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:59271541G>A	uc001sqr.3	-	14	2423	c.2177C>T	c.(2176-2178)cCt>cTt	p.P726L	LRIG3_uc009zqh.3_Missense_Mutation_p.P666L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	726	Ig-like C2-type 3.					integral to membrane		p.P726R(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTCAGTTTAGGGGGAGGGCT	0.488000			T	ROS1	NSCLC									9			42		0	0	0.001951	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835935	12835935	+	Silent	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12835935T>C	uc001aui.3	+	1	564	c.537T>C	c.(535-537)tgT>tgC	p.C179C		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	179										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACGTGTGTTGCAAGGAGC	0.507000														31			43		0	0	0.002222	0	0
CREBRF	153222	broad.mit.edu	37	5	172517864	172517864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:172517864C>T	uc003mch.3	+	3	1001	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	CREBRF_uc003mcf.3_Missense_Mutation_p.H228Y|CREBRF_uc003mcg.3_Missense_Mutation_p.H228Y|CREBRF_uc011dfd.1_Missense_Mutation_p.H228Y	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	228							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GGTGAACTTTCATGTTGAATG	0.418000														27			13		0	0	0.001855	0	0
TMEM74	157753	broad.mit.edu	37	8	109796904	109796904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:109796904C>T	uc003ymy.1	-	1	529	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.E142K	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	142					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTTGGATTTTCCCAGCCAAGC	0.473000														86			25		0	0	0.004656	0	0
EPHB6	2051	broad.mit.edu	37	7	142564680	142564680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142564680C>T	uc011kst.2	+	10	2391	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	EPHB6_uc011ksu.2_Missense_Mutation_p.S535F|EPHB6_uc003wbs.3_Missense_Mutation_p.S243F|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_Missense_Mutation_p.S243F|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	535	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAATCCCACTCCTTCACCCTG	0.657000														27			54		0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19471576	19471576	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19471576C>T	uc002dgc.4	+	5	1817	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TMC5_uc010vaq.2_Silent_p.S356S|TMC5_uc002dgb.4_Silent_p.S356S|TMC5_uc010var.2_Silent_p.S356S|TMC5_uc002dgd.1_Silent_p.S110S|TMC5_uc002dge.4_Silent_p.S110S|TMC5_uc002dgf.4_Silent_p.S18S|TMC5_uc002dgg.4_5'UTR	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	356						integral to membrane		p.R355H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAATCGCATCCCTTATACCCA	0.388000														28			6		0	0	0.001168	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195094	18195094	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:18195094C>T	uc001mnv.1	+	0	711	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCGCAAAATCCTCGTTTCTG	0.522000														31			20		0	0	0.007413	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705059	77705059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:77705059C>T	uc001xtf.2	+	9	886	c.674C>T	c.(673-675)aCc>aTc	p.T225I	TMEM63C_uc010asq.1_Missense_Mutation_p.T225I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	225						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTAATGATCACCTATGTGCCC	0.463000														40			14		0	0	0.004990	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609150	31609150	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:31609150G>A	uc002wyj.3	+	14	1452	c.1258_splice	c.e14+1	p.A420_splice		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	420						extracellular region	lipid binding										CCATCTCAATGGTAAGCCCTG	0.647000														24			13		0	0	0.001368	0	0
PRB2	653247	broad.mit.edu	37	12	11546785	11546785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:11546785C>T	uc010shk.1	-	2	262	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.607000														95			56		0	0	0.003610	0	0
SMOC1	64093	broad.mit.edu	37	14	70420162	70420162	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:70420162G>A	uc001xlt.2	+	2	573	c.291G>A	c.(289-291)ctG>ctA	p.L97L	SMOC1_uc001xls.2_Silent_p.L97L	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	97	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGTCGCCTGGAGCGGGCTC	0.562000														43			45		0	0	0.003610	0	0
LMOD3	56203	broad.mit.edu	37	3	69168224	69168225	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:69168224_69168225GG>AA	uc003dns.2	-	1	1490_1491	c.1281_1282CC>TT	c.(1279-1284)ccccct>ccTTct	p.P428S	LMOD3_uc003dnt.2_Missense_Mutation_p.P428S	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	428						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CACATCCCAGGGGGCAGCCCCA	0.540000														22			28		0	0	0.004672	0	0
FCHO2	115548	broad.mit.edu	37	5	72348266	72348266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:72348266C>T	uc003kcl.3	+	12	1221	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	FCHO2_uc011csl.2_Missense_Mutation_p.H336Y|FCHO2_uc010izb.3_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	369										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TAACTCACATCACACAATGGC	0.353000														2			3		0	0	0.004672	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118021	118021	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000205.1:118021G>A	uc002kgk.4	+	0		c.1399G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAATACGAGGGGCAGCCCTCG	0.567000														62			5		0	0	0.004482	0	0
UBP1	7342	broad.mit.edu	37	3	33481295	33481296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:33481295_33481296CC>TT	uc003cfq.4	-	0	575_576	c.45_46GG>AA	c.(43-48)ctggtg>ctAAtg	p.V16M	UBP1_uc003cfr.4_Missense_Mutation_p.V16M|UBP1_uc010hga.3_Missense_Mutation_p.V16M	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	16					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AAGTCGTGCACCAGCCCGGACT	0.698000														83			23		0	0	0.004672	0	0
FAM48B2	170067	broad.mit.edu	37	X	24330728	24330728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:24330728C>T	uc011mjw.2	-	0	705	c.705G>A	c.(703-705)atG>atA	p.M235I		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	235										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						GGCACTGTTCCATCGGGTCGG	0.537000														74			34		0	0	0.003755	0	0
DRD2	1813	broad.mit.edu	37	11	113281467	113281467	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:113281467C>T	uc001pnz.3	-	6	1635	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	DRD2_uc010rwv.2_Silent_p.L437L|DRD2_uc001poa.4_Silent_p.L438L|DRD2_uc001pob.4_Silent_p.L409L	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	438					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGAGGATCTTCAGGAAGGCCT	0.617000														42			25		0	0	0.007291	0	0
GABRB2	2561	broad.mit.edu	37	5	160753448	160753448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:160753448C>T	uc003lys.1	-	9	1336	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	373					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ccacaaggatcgatattgggt	0.383000														13			13		0	0	0.003163	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198832	170198832	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:170198832G>A	uc003fgz.2	-	6	1555	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	413						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGAGCGTGCCGATAGACATCA	0.537000														46			4		0	0	0.001168	0	0
CD1E	913	broad.mit.edu	37	1	158325781	158325781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158325781G>A	uc001fse.3	+	3	1083	c.790G>A	c.(790-792)Gac>Aac	p.D264N	CD1E_uc010pid.2_Missense_Mutation_p.D262N|CD1E_uc010pie.2_Missense_Mutation_p.D165N|CD1E_uc001fsh.3_Missense_Mutation_p.D75N|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Missense_Mutation_p.D264N|CD1E_uc001fsg.3_Missense_Mutation_p.D75N|CD1E_uc009wsv.3_Missense_Mutation_p.D165N|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Missense_Mutation_p.D174N|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.D264N|CD1E_uc001frz.3_Missense_Mutation_p.D174N|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Missense_Mutation_p.D75N|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Missense_Mutation_p.D22N	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	264	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.D264E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCCTAATGCTGACGAGACATG	0.617000														56			27		0	0	0.005443	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117769	117769	+	RNA	SNP	C	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrGL000205.1:117769C>A	uc002kgk.4	+	0		c.1147C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGTTGCAGTTCGAGCCAAGGC	0.587000														25			5		3.59834e-05	4.70219e-05	0.001168	1	0
ZHX3	23051	broad.mit.edu	37	20	39831445	39831445	+	Silent	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:39831445A>C	uc010ggg.1	-	0	2262	c.2112T>G	c.(2110-2112)ggT>ggG	p.G704G	ZHX3_uc002xjr.1_Silent_p.G704G|ZHX3_uc002xjs.1_Silent_p.G704G|ZHX3_uc002xjt.1_Silent_p.G704G|ZHX3_uc002xju.1_Silent_p.G704G|ZHX3_uc002xjv.1_Silent_p.G704G|ZHX3_uc002xjw.1_Silent_p.G704G	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	704					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCATTTTCACCAGAGACCC	0.527000														122			24		0	0	0.003954	0	0
TSKS	60385	broad.mit.edu	37	19	50251672	50251672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:50251672C>T	uc002ppm.3	-	2	465	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	152							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTGGTCTTTTCCTTCAAGCTG	0.562000														67			17		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9072844	9072844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9072844C>T	uc002mkp.3	-	2	14806	c.14602G>A	c.(14602-14604)Gaa>Aaa	p.E4868K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4870	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						GTGGTGTCTTCCATGGTGGAG	0.463000														44			58		0	0	0.003610	0	0
FBXL13	222235	broad.mit.edu	37	7	102518011	102518011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102518011C>T	uc003vaq.2	-	15	1965	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.R513Q|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R513Q	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	513								p.R513*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTCACAATTTCGTAAACTCAA	0.323000														23			47		0	0	0.003610	0	0
GLRB	2743	broad.mit.edu	37	4	158091583	158091583	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:158091583G>A	uc003ipj.2	+	10	1400	c.1198_splice	c.e10-1	p.V400_splice	GLRB_uc021xtp.1_Splice_Site_p.G302_splice|GLRB_uc021xtq.1_Splice_Site_p.V400_splice	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	400					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTATTCTTAGGTTGGTGAGA	0.313000														10			8		0	0	0.000673	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074922	106074922	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:106074922G>A	uc001kyf.3	-	2	1341	c.888C>T	c.(886-888)gaC>gaT	p.D296D	ITPRIP_uc001kye.3_Silent_p.D296D|ITPRIP_uc001kyg.3_Silent_p.D296D|ITPRIP_uc021pxv.1_Silent_p.D296D	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	296						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGCATCGTGTCCAGGTACA	0.607000														32			37		0	0	0.006230	0	0
RELA	5970	broad.mit.edu	37	11	65425868	65425868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:65425868G>A	uc010ron.2	-	7	940	c.800C>T	c.(799-801)cCc>cTc	p.P267L	RELA_uc001off.3_Missense_Mutation_p.P256L|RELA_uc001ofh.3_Missense_Mutation_p.P253L|RELA_uc001ofg.3_Missense_Mutation_p.P256L|RELA_uc021qlq.1_Missense_Mutation_p.P256L|RELA_uc009yqr.3_Missense_Mutation_p.P203L|RELA_uc001ofe.2_Missense_Mutation_p.P256L|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	256	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTCTGCGTAGGGAGGGGTCCG	0.622000														21			15		0	0	0.007413	0	0
MTMR8	55613	broad.mit.edu	37	X	63445469	63445469	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:63445469A>G	uc011mou.2	-	9	1277	c.1187T>C	c.(1186-1188)cTc>cCc	p.L396P	MTMR8_uc004dvq.2_Missense_Mutation_p.L12P|MTMR8_uc004dvr.2_Missense_Mutation_p.L21P	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGGCTGCAGGAGGGAGAAGAT	0.483000														7			4		0	0	0.000602	0	0
OR4A16	81327	broad.mit.edu	37	11	55111342	55111342	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55111342C>T	uc010rie.2	+	0	666	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F222F(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCCTAAACTTCCTTAAAACTT	0.423000														18			7		0	0	0.003080	0	0
OR4K1	79544	broad.mit.edu	37	14	20404348	20404348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20404348G>A	uc001vwj.2	+	0	582	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAATGAGGTGGATAGCTTCTT	0.453000														55			26		0	0	0.002096	0	0
SCFD2	152579	broad.mit.edu	37	4	53773705	53773705	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:53773705C>T	uc003gzu.3	-	6	1895	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	SCFD2_uc010igm.3_Intron	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	587					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AATCTGGCCTCTCGGGATGAA	0.403000														29			16		0	0	0.004007	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318795	21318795	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:21318795C>T	uc021tss.1	+	2	511	c.141C>T	c.(139-141)gtC>gtT	p.V47V	KCNJ18_uc002gyv.1_Silent_p.V47V|KCNJ18_uc021tst.1_Silent_p.V47V	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	47						integral to membrane	inward rectifier potassium channel activity										ACCGCTTCGTCAAGAAGAATG	0.617000														28			8		0	0	0.003080	0	0
SPTB	6710	broad.mit.edu	37	14	65252598	65252598	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:65252598C>T	uc001xht.3	-	15	3684	c.3633G>A	c.(3631-3633)gaG>gaA	p.E1211E	SPTB_uc001xhr.3_Silent_p.E1211E|SPTB_uc001xhs.3_Silent_p.E1211E|SPTB_uc001xhu.3_Silent_p.E1211E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1211					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCAAGAAATCCTCAAACTTCC	0.512000														163			83		0	0	0.003610	0	0
STK31	56164	broad.mit.edu	37	7	23810696	23810696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:23810696G>A	uc003sws.4	+	13	1853	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	STK31_uc003swt.4_Missense_Mutation_p.E573K|STK31_uc011jze.2_Missense_Mutation_p.E596K|STK31_uc010kuq.3_Missense_Mutation_p.E573K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	596							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCATTCAGAGGAAAGGCTCAT	0.328000														77			7		0	0	0.001984	0	0
GLI2	2736	broad.mit.edu	37	2	121554867	121554867	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:121554867G>A	uc010flp.3	+	1	1	c.-29_splice	c.e1-1		GLI2_uc010yyu.1_Splice_Site|GLI2_uc002tmp.1_Splice_Site|GLI2_uc010fln.1_Splice_Site|GLI2_uc002tmq.1_Splice_Site|GLI2_uc002tmr.1_Splice_Site|GLI2_uc002tmt.4_Splice_Site|GLI2_uc002tmu.4_Splice_Site|GLI2_uc002tmv.1_Splice_Site|GLI2_uc010flo.1_Splice_Site|GLI2_uc002tmw.1_Splice_Site	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.						axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCTCTTTTAGGATTGCCACCC	0.582000														159			109		0	0	0.003610	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994221	1994221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:1994221C>T	uc021qsx.1	-	9	1321	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E280K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	364	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCATCAACTCCTCCACCAGC	0.542000														15			67		0	0	0.003610	0	0
MUC2	4583	broad.mit.edu	37	11	1086451	1086451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1086451C>T	uc001lsx.1	+	22	3187	c.3160C>T	c.(3160-3162)Ctc>Ttc	p.L1054F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1054	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGCAGCATCCTCAAAAGCAG	0.657000														5			5		0	0	0.000602	0	0
FBLN1	2192	broad.mit.edu	37	22	45923749	45923749	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:45923749T>C	uc010gzz.3	+	4	605	c.458T>C	c.(457-459)cTg>cCg	p.L153P	FBLN1_uc003bgg.1_Missense_Mutation_p.L115P|FBLN1_uc003bgh.3_Missense_Mutation_p.L115P|FBLN1_uc003bgi.1_Missense_Mutation_p.L115P|FBLN1_uc003bgj.1_Missense_Mutation_p.L115P	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	115					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCTGTCTGCTGGGGAGGGCG	0.647000														97			21		0	0	0.003330	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900747	28900747	+	RNA	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:28900747C>T	uc010uan.1	+	2		c.678C>T			HERC2P9_uc010azc.3_Intron|HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		CGCTGCACTCCCTGACTCAGT	0.622000														49			22		0	0	0.002780	0	0
SPON1	10418	broad.mit.edu	37	11	14278196	14278196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:14278196G>A	uc001mle.3	+	10	1532	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	423					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGACAATGTCGATGATATTGT	0.413000														35			18		0	0	0.007413	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802869	124802869	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124802869G>A	uc003ehw.4	-	13	2167	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	SLC12A8_uc003ehv.4_Silent_p.I670I|SLC12A8_uc003eht.4_Silent_p.I471I|SLC12A8_uc010hry.3_Missense_Mutation_p.S331L	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	670					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCGCCAAGATGATCTGCTCCT	0.567000														4			14		0	0	0.003163	0	0
CDC27	996	broad.mit.edu	37	17	45219678	45219678	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:45219678A>G	uc002ile.4	-	10	1440	c.1313T>C	c.(1312-1314)tTg>tCg	p.L438S	CDC27_uc002ild.4_Missense_Mutation_p.L432S|CDC27_uc002ilf.4_Missense_Mutation_p.L432S|CDC27_uc010wkp.2_Missense_Mutation_p.L371S|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L438S(1)|p.L432S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGAAGAGTCCAATTTTGTAAT	0.343000														20			3		0	0	0.004672	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18892396	18892396	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:18892396G>A	uc003zne.4	+	25	4805	c.4653G>A	c.(4651-4653)gtG>gtA	p.V1551V	ADAMTSL1_uc003znf.4_Silent_p.V252V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1551	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGTGGATGGTGACCTCCTGGT	0.612000														1			13		0	0	0.001368	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573504	38573504	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:38573504G>A	uc002ohk.3	+	2	1808	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	433					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCGCAATGAGATCGGGGGCG	0.657000														78			16		0	0	0.004990	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071934	17071934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17071934C>T	uc002zlp.1	-	0	1767	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	503					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCTCGAAATCCTTGGGCTTTG	0.512000														62			113		0	0	0.003610	0	0
OR5J2	282775	broad.mit.edu	37	11	55944788	55944788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55944788C>T	uc010rjb.2	+	0	695	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CACTCAGCATCAGGCAGACAG	0.483000														29			15		0	0	0.002450	0	0
SPATA18	132671	broad.mit.edu	37	4	52943176	52943176	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:52943176C>T	uc003gzl.3	+	6	1268	c.990C>T	c.(988-990)acC>acT	p.T330T	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.T298T|SPATA18_uc003gzk.1_Silent_p.T330T	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	330					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGCTGAGACCGTTCAGCGGA	0.622000														5			6		0	0	0.001168	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982226	61982226	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61982226G>A	uc002yes.2	-	4	715	c.537C>T	c.(535-537)ttC>ttT	p.F179F	CHRNA4_uc002yet.1_Silent_p.F3F|CHRNA4_uc010gke.1_Silent_p.F108F|CHRNA4_uc002yev.1_Silent_p.F3F|CHRNA4_uc010gkf.1_Silent_p.F3F	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	179					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCAGGAGCCGAATTTCATGG	0.602000														119			28		0	0	0.001512	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888510	12888510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12888510C>T	uc001auk.2	-	1	210	c.14G>A	c.(13-15)aGc>aAc	p.S5N		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	5										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCGTCTCCTGCTGAAGGCCTC	0.642000														42			47		0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54817794	54817794	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:54817794C>T	uc021smr.1	+	22	5499	c.5499C>T	c.(5497-5499)ctC>ctT	p.L1833L	UNC13C_uc021sms.1_Silent_p.L1835L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1835					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)		AGGTTAAGCTCAGTGGGGTCC	0.393000														14			4		0	0	0.000248	0	0
TRBV2	28620	broad.mit.edu	37	7	142001220	142001220	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142001220G>A	uc011kro.1	+	1	357	c.312G>A	c.(310-312)gaG>gaA	p.E104E	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAAGCTGGAGGACTCAGCCA	0.488000														12			7		0	0	0.001984	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144120	106144120	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:106144120G>A	uc004emr.2	-	3	359	c.315C>T	c.(313-315)tcC>tcT	p.S105S	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.2_Silent_p.S58S	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	Homo sapiens ripply1 homolog (zebrafish) (RIPPLY1), transcript variant 1, mRNA.	105	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		p.S105F(1)		lung(1)|urinary_tract(1)	2						CGAAGGAGCGGGATTTAGGCC	0.527000														15			5		0	0	0.000602	0	0
DCTN4	51164	broad.mit.edu	37	5	150138553	150138553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:150138553C>T	uc010jhi.3	-	0	105	c.3G>A	c.(1-3)atG>atA	p.M1I	DCTN4_uc003lsu.3_5'Flank|DCTN4_uc003lsv.3_Missense_Mutation_p.M1I|DCTN4_uc010jhj.2_Non-coding_Transcript|DCTN4_uc011dck.1_5'Flank	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	1						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAGGACGCCATCTTGGGGA	0.602000														36			8		0	0	0.003080	0	0
CCR3	1232	broad.mit.edu	37	3	46306776	46306776	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:46306776C>T	uc003cpl.2	+	2	1257	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	CCR3_uc003cpg.2_Silent_p.L43L|CCR3_uc003cpk.2_Silent_p.L64L|CCR3_uc003cpi.2_Silent_p.L43L|CCR3_uc010hjb.2_Silent_p.L61L|CCR3_uc003cpj.2_Silent_p.L43L|CCR3_uc021wwz.1_Silent_p.L43L	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	43					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCTGTACTCCCTGGTGTTCAC	0.517000														26			5		0	0	0.000602	0	0
OTOF	9381	broad.mit.edu	37	2	26707409	26707409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:26707409C>T	uc002rhk.3	-	11	1265	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	380					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V379M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTTGCCCACCACGGCAACG	0.592000														24			19		0	0	0.001216	0	0
PKP2	5318	broad.mit.edu	37	12	33030950	33030950	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:33030950G>A	uc001rlj.4	-	2	979	c.864C>T	c.(862-864)tcC>tcT	p.S288S	PKP2_uc001rlk.4_Silent_p.S288S|PKP2_uc010skj.2_Silent_p.S288S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	288					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R287M(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GATGCCAGGAGGACCTGGAAG	0.647000														10			25		0	0	0.004656	0	0
QSER1	79832	broad.mit.edu	37	11	32955313	32955313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:32955313C>T	uc001mty.3	+	3	2389	c.2122C>T	c.(2122-2124)Cca>Tca	p.P708S	QSER1_uc001mtz.1_Missense_Mutation_p.P469S|QSER1_uc001mua.3_Missense_Mutation_p.P213S	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	708	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GATTCAAATTCCAAATCATGC	0.403000														22			16		0	0	0.004007	0	0
PTPRN2	5799	broad.mit.edu	37	7	157388004	157388004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:157388004C>T	uc003wno.3	-	16	2543	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	PTPRN2_uc003wnp.3_Missense_Mutation_p.D791N|PTPRN2_uc003wnq.3_Missense_Mutation_p.D779N|PTPRN2_uc003wnr.3_Missense_Mutation_p.D770N|PTPRN2_uc011kwa.2_Missense_Mutation_p.D831N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	808	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCGTGATCCATCTGCAGA	0.542000														10			38		0	0	0.005524	0	0
ZNF467	168544	broad.mit.edu	37	7	149467625	149467625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:149467625C>T	uc003wgd.2	-	2	196	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZNF467_uc003wgc.3_Missense_Mutation_p.E19K	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCCATCTCTGGCTGTCCC	0.557000														32			66		0	0	0.003610	0	0
OR6C70	390327	broad.mit.edu	37	12	55863651	55863651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55863651G>A	uc010spn.2	-	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACCATTACAGGAAATGGTCTT	0.383000														3			19		0	0	0.006122	0	0
XDH	7498	broad.mit.edu	37	2	31572667	31572668	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:31572667_31572668CC>TT	uc002rnv.1	-	25	2932_2933	c.2853_2854GG>AA	c.(2851-2856)ggggac>ggAAac	p.D952N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	952					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTGTCAGGTCCCCTTCTTTGT	0.530000														38			33		0	0	0.004672	0	0
TMX3	54495	broad.mit.edu	37	18	66364482	66364482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:66364482G>A	uc002lkf.3	-	7	686	c.551C>T	c.(550-552)tCa>tTa	p.S184L	TMX3_uc010xez.2_Missense_Mutation_p.S43L|TMX3_uc010xfa.1_Missense_Mutation_p.S157L|TMX3_uc002lkg.4_Missense_Mutation_p.S184L	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	184					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CACTTCTTCTGAGGCAGAAAA	0.244000														3			16		0	0	0.001216	0	0
MAPK15	225689	broad.mit.edu	37	8	144804000	144804000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:144804000C>T	uc003yzj.3	+	12	1449	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	470					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCCCTGATCCGGGGTGACTG	0.687000														19			29		0	0	0.001786	0	0
ROBO3	64221	broad.mit.edu	37	11	124740159	124740159	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124740159C>T	uc001qbc.3	+	4	1034	c.865C>T	c.(865-867)Cta>Tta	p.L289L		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	289	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCACCTCGTCTACGCTGGCG	0.587000														23			11		0	0	0.000978	0	0
FLNC	2318	broad.mit.edu	37	7	128486806	128486806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128486806G>A	uc003vnz.4	+	23	4344	c.4135G>A	c.(4135-4137)Ggc>Agc	p.G1379S	FLNC_uc003voa.4_Missense_Mutation_p.G1379S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1379					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGGGAGCGGGCACCGGGGG	0.592000														20			54		0	0	0.003610	0	0
SOBP	55084	broad.mit.edu	37	6	107854792	107854792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:107854792G>A	uc003prx.3	+	3	1055	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	SOBP_uc003prw.1_Missense_Mutation_p.R184Q	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	184							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCTGCCGACGAGCCTACTTC	0.572000														11			62		0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100235009	100235009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:100235009G>A	uc003hus.4	-	5	881	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	266					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.S266L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														110			43		0	0	0.003610	0	0
DGKH	160851	broad.mit.edu	37	13	42733442	42733442	+	Silent	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:42733442A>T	uc001uyl.2	+	5	730	c.663A>T	c.(661-663)gcA>gcT	p.A221A	DGKH_uc010tfh.2_Silent_p.A221A|DGKH_uc001uym.2_Silent_p.A221A|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Intron|DGKH_uc001uyo.2_Silent_p.A85A|DGKH_uc010tfj.2_Silent_p.A85A|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	221					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGTGAGAGCAACAAATAACT	0.403000														7			4		0	0	0.000248	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603809	140603809	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140603809G>A	uc003ljb.3	+	0	732	c.732G>A	c.(730-732)caG>caA	p.Q244Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTTCCTCAGAGTCTCTATG	0.507000														33			40		0	0	0.002222	0	0
TENC1	23371	broad.mit.edu	37	12	53453362	53453362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:53453362C>T	uc001sbp.3	+	17	2072	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	TENC1_uc001sbl.3_Missense_Mutation_p.S522L|TENC1_uc001sbn.3_Missense_Mutation_p.S656L|TENC1_uc001sbq.3_Missense_Mutation_p.S141L|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.S141L	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	646					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTCTGCCGATCGCTGTCAGAG	0.662000														10			43		0	0	0.001951	0	0
FAM123C	205147	broad.mit.edu	37	2	131519860	131519860	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:131519860T>G	uc021voy.1	+	0	215	c.215T>G	c.(214-216)cTg>cGg	p.L72R	FAM123C_uc002trw.2_Missense_Mutation_p.L72R|FAM123C_uc010fmv.2_Missense_Mutation_p.L72R|FAM123C_uc010fms.1_Missense_Mutation_p.L72R|FAM123C_uc010fmt.1_Missense_Mutation_p.L72R|FAM123C_uc010fmu.1_Missense_Mutation_p.L72R	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	72										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGGCGCAGCTGGACCCCAAA	0.642000														4			10		0	0	0.006214	0	0
PLCB4	5332	broad.mit.edu	37	20	9317845	9317845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:9317845G>A	uc021wam.1	+	1	172	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PLCB4_uc010gbw.1_Missense_Mutation_p.E53K|PLCB4_uc010gbx.3_Missense_Mutation_p.E53K|PLCB4_uc021wal.1_Missense_Mutation_p.E53K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	53					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGGAGAAGTGAAGGCAAGGT	0.418000														24			21		0	0	0.001882	0	0
PARD3B	117583	broad.mit.edu	37	2	205983712	205983712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:205983712G>A	uc002var.2	+	6	955	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PARD3B_uc010fub.2_Missense_Mutation_p.E250K|PARD3B_uc002vao.2_Missense_Mutation_p.E250K|PARD3B_uc002vap.2_Missense_Mutation_p.E250K|PARD3B_uc002vaq.2_Missense_Mutation_p.E250K	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	250	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.E251K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTATTTCACGAAAATGAATG	0.348000														33			21		0	0	0.002780	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230588	69230589	+	Missense_Mutation	DNP	AA	TC	TC			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:69230588_69230589AA>TC	uc003dnv.2	-	20	2602_2603	c.2312_2313TT>GA	c.(2311-2313)gtt>gGA	p.V771G	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.V423G|FRMD4B_uc011bga.1_Missense_Mutation_p.V615G	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	771						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGAAGTAGAAACATTCTGTTT	0.485000														48			15		0	0	0.004672	0	0
VAT1L	57687	broad.mit.edu	37	16	77859317	77859317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:77859317G>A	uc002ffg.1	+	2	635	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	180							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAACCTCCGGGAAGGGATGTC	0.522000														1			7		0	0	0.001984	0	0
DAGLA	747	broad.mit.edu	37	11	61495658	61495658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:61495658G>A	uc001nsa.3	+	6	786	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	224					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCTCTTTGCGGAGTTCTTCCG	0.622000														49			26		0	0	0.002445	0	0
SCN2A	6326	broad.mit.edu	37	2	166170230	166170230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:166170230C>T	uc002udc.3	+	8	1425	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	SCN2A_uc002udd.3_Missense_Mutation_p.R379C|SCN2A_uc002ude.3_Missense_Mutation_p.R379C	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	379					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R379C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCTTATTTCGTCTCATGAC	0.413000														34			17		0	0	0.004990	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023421	193023421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:193023421C>T	uc011bsq.2	-	22	2605	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	869					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCTTCCTGCTCTGATAATGAA	0.458000														28			47		0	0	0.003610	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426469	26426469	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:26426469G>A	uc011dkl.1	+	3	455	c.425_splice	c.e3-1	p.G142_splice	BTN2A3P_uc011dkm.2_Splice_Site					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		TCTCTCCCCAGGACTGGACTC	0.527000														3			8		0	0	0.004482	0	0
KRT6B	3854	broad.mit.edu	37	12	52842698	52842698	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:52842698G>A	uc001sak.3	-	5	1179	c.1131C>T	c.(1129-1131)acC>acT	p.T377T		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	377	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTCCTGCTTGGTGTTGCGCA	0.552000														7			42		0	0	0.002222	0	0
THSD7A	221981	broad.mit.edu	37	7	11485935	11485935	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:11485935C>T	uc021zzo.1	-	12	3069	c.2817G>A	c.(2815-2817)aaG>aaA	p.K939K	THSD7A_uc021zzn.1_Silent_p.K939K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	939	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACATTTTTCCTTCTTTTTAC	0.353000										HNSCC(18;0.044)				14			37		0	0	0.006230	0	0
NLRP4	147945	broad.mit.edu	37	19	56369767	56369767	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56369767C>T	uc002qmd.4	+	2	1430	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NLRP4_uc002qmf.3_Silent_p.S261S|NLRP4_uc010etf.3_Silent_p.S167S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	336	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCTGTTTTCCATATGCCAAA	0.473000														32			40		0	0	0.002222	0	0
GLDC	2731	broad.mit.edu	37	9	6589236	6589236	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:6589236G>A	uc003zkc.3	-	11	1732	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	513					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGTCCTCTTGAACACAGACC	0.502000														6			35		0	0	0.006999	0	0
FBXO39	162517	broad.mit.edu	37	17	6683216	6683216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:6683216C>T	uc010vtg.2	+	1	149	c.29C>T	c.(28-30)cCc>cTc	p.P10L		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	10			P -> S (in dbSNP:rs4796555).							NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTGATCCAGCCCCAAGACCAG	0.537000														5			20		0	0	0.001882	0	0
DAB1	1600	broad.mit.edu	37	1	57611094	57611094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57611094G>A	uc009vzx.1	-	2	396	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	DAB1_uc001cyt.1_Missense_Mutation_p.R26C|DAB1_uc001cyq.1_Missense_Mutation_p.R26C|DAB1_uc001cyr.1_Missense_Mutation_p.R26C|DAB1_uc009vzw.1_Missense_Mutation_p.R26C|DAB1_uc001cys.1_Missense_Mutation_p.R26C	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	26					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCACTGCGATCCTGACCT	0.458000														20			17		0	0	0.004990	0	0
ABCA8	10351	broad.mit.edu	37	17	66915539	66915539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:66915539G>A	uc002jhq.3	-	13	2031	c.1691C>T	c.(1690-1692)cCa>cTa	p.P564L	ABCA8_uc002jhp.3_Missense_Mutation_p.P564L|ABCA8_uc010wqq.2_Missense_Mutation_p.P564L|ABCA8_uc010wqr.2_Missense_Mutation_p.P503L|ABCA8_uc002jhr.3_Missense_Mutation_p.P564L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	564	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTGGATTGTGGACAAACTCC	0.388000														7			74		0	0	0.003610	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40235622	40235622	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:40235622C>G	uc001zkm.1	+	2	346	c.296C>G	c.(295-297)tCa>tGa	p.S99*	EIF2AK4_uc001zkl.3_Nonsense_Mutation_p.S99*	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	99	RWD.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAGGTCTATCAAATGAAAGT	0.338000														24			33		0	0	0.003271	0	0
TRAF3	7187	broad.mit.edu	37	14	103336638	103336638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:103336638C>T	uc001ymc.2	+	2	453	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TRAF3_uc001ymd.2_Missense_Mutation_p.P34S|TRAF3_uc001yme.2_Missense_Mutation_p.P34S|TRAF3_uc010txy.2_Missense_Mutation_p.P34S	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	34					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTTTTTGTCCCTGAACAAGG	0.542000														55			26		0	0	0.003954	0	0
SCLT1	132320	broad.mit.edu	37	4	129809847	129809847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:129809847G>A	uc003igp.2	-	19	2497	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	SCLT1_uc003ign.2_Missense_Mutation_p.S328L|SCLT1_uc003igo.2_Missense_Mutation_p.S274L|SCLT1_uc003igq.2_Missense_Mutation_p.S283L|SCLT1_uc010iob.1_Missense_Mutation_p.S151L	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	664						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGGGAAGCTGAAGCAGCTCT	0.383000														42			12		0	0	0.001855	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102509584	102509584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:102509584C>T	uc003kod.4	+	20	2956	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.P813S|PPIP5K2_uc003kof.3_Missense_Mutation_p.P114S	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	813					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTCTGTCTCCTGAACGTCA	0.323000														12			16		0	0	0.004990	0	0
CST8	10047	broad.mit.edu	37	20	23473643	23473643	+	Missense_Mutation	SNP	G	A	A	rs147883534	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:23473643G>A	uc002wth.1	+	2	637	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	94						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGCCCGCAGCGATTGCAGAAA	0.393000														133			103		0	0	0.003610	0	0
PKD1	5310	broad.mit.edu	37	16	2154543	2154543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2154543G>A	uc002cos.1	-	21	8326	c.8117C>T	c.(8116-8118)aCc>aTc	p.T2706I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.T2706I|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2706	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGCGTCACGGTGCCCGCGGT	0.692000														7			3		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179430967	179430967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179430967C>T	uc021vsy.1	-	274	72413	c.72188G>A	c.(72187-72189)gGt>gAt	p.G24063D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17758D|TTN_uc021vta.1_Missense_Mutation_p.G17691D|TTN_uc021vtb.1_Missense_Mutation_p.G17566D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24990	Fibronectin type-III 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGAATTCACCTTCCTCTCG	0.388000														43			31		0	0	0.001786	0	0
BC128131	0	broad.mit.edu	37	19	23170170	23170170	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23170170G>A	uc002nqz.1	-	1	1	c.-25_splice	c.e1-1		BC128131_uc002nqy.1_Splice_Site					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		CCTTGCTCCAGAAAAATGATC	0.413000														22			15		0	0	0.006122	0	0
PNMA5	114824	broad.mit.edu	37	X	152159655	152159655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:152159655G>A	uc022chn.1	-	0	488	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PNMA5_uc010ntx.3_Missense_Mutation_p.S163L|PNMA5_uc010ntw.3_Missense_Mutation_p.S163L|PNMA5_uc004fgy.4_Missense_Mutation_p.S163L|PNMA5_uc022chm.1_Missense_Mutation_p.S163L	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	163					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGTTCCCGAAAACACTTT	0.522000														82			43		0	0	0.002222	0	0
IDS	3423	broad.mit.edu	37	X	148564354	148564354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:148564354C>T	uc011mxe.2	-	8	1793	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	IDS_uc011mxd.2_Missense_Mutation_p.D129N|IDS_uc011mxf.2_Missense_Mutation_p.D436N|IDS_uc011mxg.2_Missense_Mutation_p.D315N|IDS_uc010nsu.2_Missense_Mutation_p.D136N|IDS_uc004fcw.4_Missense_Mutation_p.D315N	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	526						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGTCAGAATCCACAAAATAC	0.423000														30			19		0	0	0.001216	0	0
SAMD5	389432	broad.mit.edu	37	6	147830197	147830197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:147830197G>A	uc003qmc.2	+	0	370	c.133G>A	c.(133-135)Ggg>Agg	p.G45R		NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN	Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.	45	SAM.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGATGCCATCGGGGTGCTGGC	0.692000														3			19		0	0	0.006122	0	0
BCL11B	64919	broad.mit.edu	37	14	99641186	99641186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:99641186C>T	uc001yga.3	-	3	2254	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	BCL11B_uc001ygb.3_Missense_Mutation_p.E592K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	663						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGAAGGGCTCGGTGCCTGGC	0.791000			T	TLX3	T-ALL									10			5		0	0	0.001168	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539521	133539521	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:133539521G>A	uc002ttp.3	-	13	5237	c.4863C>T	c.(4861-4863)ctC>ctT	p.L1621L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1621							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTGTTCAAGAGTTCCGTCA	0.453000														73			7		0	0	0.001984	0	0
ZNF716	441234	broad.mit.edu	37	7	57522201	57522201	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:57522201T>A	uc011kdi.1	+	1	187	c.75T>A	c.(73-75)ttT>ttA	p.F25L		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTATAGAATTTTCTCTGGCGG	0.388000														9			27		0	0	0.003954	0	0
NAT16	375607	broad.mit.edu	37	7	100817804	100817804	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100817804C>T	uc003uxy.2	-	1	524	c.285G>A	c.(283-285)gtG>gtA	p.V95V	NAT16_uc003uxz.2_Silent_p.V95V|NAT16_uc003uya.1_Silent_p.V95V|NAT16_uc003uyb.1_Silent_p.V95V	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	95	N-acetyltransferase.						N-acetyltransferase activity										TGGCCAGCACCACCGTGCGGT	0.672000														11			15		0	0	0.003163	0	0
PEAK1	79834	broad.mit.edu	37	15	77425613	77425613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:77425613G>A	uc021sqy.1	-	6	4387	c.3811C>T	c.(3811-3813)Ccg>Tcg	p.P1271S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1271					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGTCTCTGCGGCTTCTGGATG	0.502000														34			50		0	0	0.003610	0	0
LAIR1	3903	broad.mit.edu	37	19	54875923	54875923	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54875923G>T	uc002qfk.1	-	1	359	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	LAIR1_uc002qfl.1_Missense_Mutation_p.Q17K|LAIR1_uc002qfm.1_Missense_Mutation_p.Q17K|LAIR1_uc002qfn.1_Missense_Mutation_p.Q17K|LAIR1_uc010yex.2_Missense_Mutation_p.Q11K|LAIR1_uc002qfo.3_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	17						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGGATGGTCTGGGCCAGGCAG	0.602000														43			10		2.17888e-05	2.8514e-05	0.006214	1	0
LRRC17	10234	broad.mit.edu	37	7	102575032	102575032	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102575032C>T	uc003vau.3	+	1	1061	c.672C>T	c.(670-672)ccC>ccT	p.P224P	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.P224P	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	224					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACCCGAAACCCCAAGTGTCAG	0.418000														11			16		0	0	0.004007	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41054920	41054920	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41054920G>A	uc003jmj.4	-	10	1546	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	352							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTATTGAAATGATGTGATCCC	0.373000														28			40		0	0	0.001951	0	0
OR10K1	391109	broad.mit.edu	37	1	158435491	158435491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158435491C>T	uc010pij.2	+	0	140	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCATCATTTCCACCATTGTG	0.498000														68			19		0	0	0.002299	0	0
RPGR	6103	broad.mit.edu	37	X	38146214	38146214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:38146214C>T	uc004ded.1	-	14	2206	c.2038G>A	c.(2038-2040)Gac>Aac	p.D680N	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	669	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctacccttgtctttctccccc	0.532000														56			18		0	0	0.006122	0	0
NEFM	4741	broad.mit.edu	37	8	24775838	24775838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24775838G>A	uc003xed.4	+	2	2503	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	NEFM_uc011lac.1_Missense_Mutation_p.E606K|NEFM_uc010lue.3_Missense_Mutation_p.E448K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	824	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cagtgggagggaagaggagaa	0.512000														13			18		0	0	0.007413	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579783	44579783	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:44579783C>T	uc003tlb.3	-	1	269	c.213G>A	c.(211-213)ctG>ctA	p.L71L	NPC1L1_uc011kbw.2_Silent_p.L71L|NPC1L1_uc003tlc.3_Silent_p.L71L|NPC1L1_uc003tld.3_Silent_p.L71L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	71					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTAATAGGATCAGGTGATCAC	0.582000														43			11		0	0	0.000673	0	0
GPR112	139378	broad.mit.edu	37	X	135429029	135429029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:135429029C>T	uc004ezu.1	+	5	3455	c.3164C>T	c.(3163-3165)tCc>tTc	p.S1055F	GPR112_uc010nsb.1_Missense_Mutation_p.S850F|GPR112_uc010nsc.1_Missense_Mutation_p.S822F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1055					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAAATCTATCCTCAACTACA	0.473000														33			39		0	0	0.006230	0	0
ULK2	9706	broad.mit.edu	37	17	19684407	19684407	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:19684407G>T	uc002gwm.4	-	23	3159	c.2650C>A	c.(2650-2652)Cag>Aag	p.Q884K	ULK2_uc002gwn.3_Missense_Mutation_p.Q884K	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	884					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AACACCAGCTGCTCCACCCGC	0.502000														3			6		0.000157383	0.000205368	0.003080	1	0
SPEF2	79925	broad.mit.edu	37	5	35771817	35771817	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:35771817A>C	uc003jjo.3	+	26	4019	c.3908A>C	c.(3907-3909)aAg>aCg	p.K1303T	SPEF2_uc003jjp.1_Missense_Mutation_p.K789T|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1303					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)			AAAGTCAAAAAGGAGCCACCC	0.408000														13			12		0	0	0.001368	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:30973992G>A	uc021vfn.1	-	9	1245	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000														9			9		0	0	0.004482	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768198	62768198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62768198G>A	uc009yon.3	-	2	552	c.431C>T	c.(430-432)tCt>tTt	p.S144F	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.S21F|SLC22A8_uc001nwo.3_Missense_Mutation_p.S144F|SLC22A8_uc010rmm.2_Missense_Mutation_p.S53F|SLC22A8_uc001nwp.2_Missense_Mutation_p.S144F	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	144					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCACCTGTCAGACAGGTCTCC	0.562000														8			9		0	0	0.004482	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891309	30891309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:30891309C>T	uc003aid.2	-	4	455	c.355G>A	c.(355-357)Gat>Aat	p.D119N	SEC14L4_uc011akz.1_Missense_Mutation_p.D119N|SEC14L4_uc003aie.2_Missense_Mutation_p.D104N|SEC14L4_uc003aif.2_Missense_Mutation_p.D65N	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	119	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGGATCATATCCTGCTTGGAG	0.572000														27			14		0	0	0.003163	0	0
MPPED1	758	broad.mit.edu	37	22	43831072	43831072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:43831072C>T	uc011apz.2	+	2	783	c.442C>T	c.(442-444)Cac>Tac	p.H148Y	MPPED1_uc011apv.2_Missense_Mutation_p.H115Y|MPPED1_uc011apw.2_Missense_Mutation_p.H9Y|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.H115Y	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	115							hydrolase activity	p.A147A(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGTGCTGATCCACGCTGGGGA	0.652000														18			70		0	0	0.003610	0	0
C19orf75	284369	broad.mit.edu	37	19	51770654	51770654	+	Silent	SNP	G	A	A	rs147370216	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51770654G>A	uc002pwb.1	+	4	819	c.438G>A	c.(436-438)gcG>gcA	p.A146A	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.A52A	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	146						integral to membrane		p.A146A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						AGAAGCAGGCGAAGAAAGCTG	0.468000														76			19		0	0	0.001523	0	0
SORCS3	22986	broad.mit.edu	37	10	107022245	107022245	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:107022245C>T	uc001kyi.1	+	25	3827	c.3600C>T	c.(3598-3600)gtC>gtT	p.V1200V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1200						integral to membrane	neuropeptide receptor activity	p.R1199W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACACGCGGGTCATAGGTACAT	0.537000														17			4		0	0	0.000248	0	0
FAT3	120114	broad.mit.edu	37	11	92616261	92616261	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:92616261C>T	uc001pdj.4	+	22	12656	c.12639C>T	c.(12637-12639)cgC>cgT	p.R4213R	FAT3_uc001pdi.4_Silent_p.R653R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4213					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCTGCGCGGCAGTGGGG	0.657000										TCGA Ovarian(4;0.039)				112			71		0	0	0.003610	0	0
C1QL2	165257	broad.mit.edu	37	2	119915753	119915753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:119915753C>T	uc002tlo.2	-	0	719	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	31						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GGTCGCAGATCATGCGGCAGG	0.721000										HNSCC(49;0.14)				6			4		0	0	0.000248	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928255	31928255	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:31928255T>A	uc003nyn.1	+	4	790	c.401T>A	c.(400-402)cTt>cAt	p.L134H	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	134						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCCTTGTCTCTTCGCCGGCCT	0.552000														300			244		0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	123946845	123946845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123946845C>T	uc003ehg.3	+	1	203	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	KALRN_uc010hrv.1_Missense_Mutation_p.R26W|KALRN_uc003ehf.1_Missense_Mutation_p.R26W|KALRN_uc011bjy.1_Missense_Mutation_p.R26W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	26					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R26L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGGTCTTTTCGGAATGATGG	0.483000														101			33		0	0	0.005524	0	0
IFT80	57560	broad.mit.edu	37	3	160037581	160037581	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:160037581A>T	uc021xgr.1	-	7	970	c.924T>A	c.(922-924)ttT>ttA	p.F308L	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.F171L|IFT80_uc021xgq.1_Missense_Mutation_p.F306L|IFT80_uc003fde.2_Missense_Mutation_p.F171L|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	308						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGTTACTTGAAAATTTTTCC	0.388000														32			10		0	0	0.006214	0	0
AHSG	197	broad.mit.edu	37	3	186338622	186338622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:186338622C>T	uc003fqk.4	+	6	1088	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	336					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTGTCGCACCCCCGGAAAACA	0.612000														26			39		0	0	0.004289	0	0
SYCP2	10388	broad.mit.edu	37	20	58467646	58467646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:58467646G>A	uc002yaz.3	-	21	2043	c.1904C>T	c.(1903-1905)tCg>tTg	p.S635L		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	635					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.S635L(2)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCTCCTGACGAAGTACTTGC	0.318000														18			17		0	0	0.006122	0	0
SVIL	6840	broad.mit.edu	37	10	29773716	29773716	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:29773716C>T	uc001iut.1	-	26	5577	c.4824G>A	c.(4822-4824)ggG>ggA	p.G1608G	LOC387647_uc001iup.3_Non-coding_Transcript|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.G522G|SVIL_uc001iuu.1_Silent_p.G1182G|SVIL_uc009xlc.2_Silent_p.G400G	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1608	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACTTCTTTCCCATGCCATA	0.398000														10			8		0	0	0.000978	0	0
FHDC1	85462	broad.mit.edu	37	4	153897264	153897264	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:153897264C>G	uc003inf.2	+	10	2896	c.2821C>G	c.(2821-2823)Cgc>Ggc	p.R941G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	941					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGTGTGGTCACGCCAGAACTC	0.697000														16			19		0	0	0.007413	0	0
DMD	1756	broad.mit.edu	37	X	31341755	31341755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:31341755C>T	uc004dda.1	-	61	9428	c.9184G>A	c.(9184-9186)Gag>Aag	p.E3062K	DMD_uc004dcq.1_Missense_Mutation_p.E333K|DMD_uc004dcr.1_Missense_Mutation_p.E602K|DMD_uc004dcs.1_Missense_Mutation_p.E602K|DMD_uc004dct.1_Missense_Mutation_p.E602K|DMD_uc004dcu.1_Missense_Mutation_p.E602K|DMD_uc004dcv.1_Missense_Mutation_p.E602K|DMD_uc004dcw.2_Missense_Mutation_p.E1718K|DMD_uc004dcx.2_Missense_Mutation_p.E1721K|DMD_uc004dcz.2_Missense_Mutation_p.E2939K|DMD_uc004dcy.1_Missense_Mutation_p.E3058K|DMD_uc004ddb.1_Missense_Mutation_p.E3054K	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3062	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGGCTCTCTCCCAGGGACCC	0.408000														17			4		0	0	0.000602	0	0
C3	718	broad.mit.edu	37	19	6719374	6719374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:6719374C>T	uc002mfm.3	-	1	177	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	39					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGGTCTCCTCGCTCTCCAGC	0.582000														37			55		0	0	0.003610	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252455	145252455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:145252455G>A	uc003lns.1	-	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	26										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACCGCTGTAGGAGGAGGAGAT	0.473000														44			32		0	0	0.002836	0	0
CILP	8483	broad.mit.edu	37	15	65489678	65489678	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:65489678C>T	uc002aon.2	-	8	3127	c.2946G>A	c.(2944-2946)ggG>ggA	p.G982G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	982					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATACAGCTTCCCCACTGTCT	0.557000														15			37		0	0	0.005524	0	0
C11orf63	79864	broad.mit.edu	37	11	122775031	122775031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:122775031G>A	uc001pym.3	+	2	1040	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	C11orf63_uc001pyl.1_Missense_Mutation_p.R248Q	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	248								p.R247W(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGCCCTCGGCGAAGGAAATCC	0.468000														59			33		0	0	0.003271	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870130	151870130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151870130G>A	uc022chf.1	+	0	820	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	MAGEA6_uc004ffq.1_Missense_Mutation_p.G274S|MAGEA6_uc004ffr.1_Missense_Mutation_p.G274S	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	274	MAGE.						protein binding	p.G274S(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCTGTGGGGTCCAAGGGC	0.532000														79			70		0	0	0.003610	0	0
FAM151A	338094	broad.mit.edu	37	1	55088965	55088965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:55088965G>A	uc001cxn.3	-	0	236	c.104C>T	c.(103-105)aCc>aTc	p.T35I	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	35						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCGCCGCAGGGTGATGGCAAG	0.562000														44			15		0	0	0.004007	0	0
ATP2B2	491	broad.mit.edu	37	3	10400474	10400474	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:10400474G>A	uc003bvt.3	-	13	2476	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	ATP2B2_uc003bvv.3_Silent_p.F634F|ATP2B2_uc003bvw.3_Silent_p.F634F|ATP2B2_uc010hdo.3_Silent_p.F384F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	679					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGCTGCTGGGGAAGTCGCGGT	0.632000														14			21		0	0	0.001216	0	0
OR4C15	81309	broad.mit.edu	37	11	55322137	55322137	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55322137C>T	uc010rig.2	+	0	355	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGGGCTTCCTGTCCTTCCT	0.463000										HNSCC(20;0.049)				20			7		0	0	0.001984	0	0
DGCR2	9993	broad.mit.edu	37	22	19036104	19036104	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:19036104G>A	uc002zoq.1	-	6	1103	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DGCR2_uc021wkx.1_Silent_p.F282F|DGCR2_uc021wky.1_Silent_p.F244F|DGCR2_uc021wkz.1_Silent_p.F61F|DGCR2_uc011agr.1_Silent_p.F241F|DGCR2_uc002zor.1_Silent_p.F61F|DGCR11_uc002zos.2_5'Flank	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	285	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCTTAGGGGTGAAGTAGAACC	0.532000														135			228		0	0	0.003610	0	0
LOC729862	729862	broad.mit.edu	37	5	28927190	28927190	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:28927190G>A	uc003jgz.1	+	0		c.214G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		TTTGAAGAAGGATCTCGTGAG	0.448000														23			5		0	0	0.001368	0	0
GIF	2694	broad.mit.edu	37	11	59599244	59599244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:59599244C>T	uc001noi.3	-	7	1147	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	367	Cobalamin binding.				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACGACAAGGCCCCAAGATGTC	0.383000														14			9		0	0	0.006214	0	0
CHRNA9	55584	broad.mit.edu	37	4	40350969	40350969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:40350969G>A	uc003gva.1	+	3	452	c.436G>A	c.(436-438)Gat>Aat	p.D146N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	146					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GATCACCTGGGATGCACCGGC	0.507000														39			28		0	0	0.006320	0	0
DNAJC17	55192	broad.mit.edu	37	15	41060239	41060239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:41060239C>T	uc001zms.2	-	10	846	c.814G>A	c.(814-816)Gac>Aac	p.D272N	C15orf62_uc010bby.3_5'Flank	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.	272					protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTCGTAGTCCCTCTCTGAC	0.662000														25			49		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141607776	141607776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:141607776C>T	uc002tvj.1	-	28	5806	c.4834G>A	c.(4834-4836)Gac>Aac	p.D1612N	LRP1B_uc010fnl.1_Missense_Mutation_p.D794N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1612					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATCGAAGTCTATCACAGTA	0.373000										TSP Lung(27;0.18)				50			23		0	0	0.003330	0	0
ASCC1	51008	broad.mit.edu	37	10	73956619	73956619	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:73956619G>A	uc001jst.2	-	5	791	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jsr.2_Nonsense_Mutation_p.Q62*|ASCC1_uc001jss.2_Nonsense_Mutation_p.Q147*|ASCC1_uc021pso.1_Nonsense_Mutation_p.Q147*|ASCC1_uc001jsu.2_Nonsense_Mutation_p.Q147*|ASCC1_uc010qju.2_Nonsense_Mutation_p.Q168*	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						AATCCTTCCTGAACCTCAACT	0.408000														11			4		0	0	0.000248	0	0
MED24	9862	broad.mit.edu	37	17	38209599	38209599	+	Silent	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:38209599G>T	uc002hts.3	-	1	440	c.240C>A	c.(238-240)tcC>tcA	p.S80S	MED24_uc010wet.2_Non-coding_Transcript|MED24_uc002htt.3_Silent_p.S55S|MED24_uc002htu.3_Silent_p.S55S|MED24_uc010cwn.3_Silent_p.S55S|MED24_uc010weu.2_5'UTR|MED24_uc010wev.1_Silent_p.S5S|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'UTR|MED24_uc010wfa.1_Silent_p.S5S|MED24_uc010wfb.1_Silent_p.S80S|MED24_uc010wfc.1_Silent_p.S5S	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	55					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GAGGATTGGGGGATGGTCCAA	0.473000														15			115		4.64599e-62	6.13903e-62	0.003610	1	0
FRMPD3	84443	broad.mit.edu	37	X	106845016	106845016	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:106845016C>T	uc022cce.1	+	0	1382	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1282	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AACTGGAGTTCCTTGAGGAAC	0.577000														36			30		0	0	0.002096	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:137872796G>A	uc002tva.1	+	3	1209	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G293G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602000														16			6		0	0	0.001168	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668765	8668765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:8668765C>T	uc002mkj.1	-	4	713	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	147					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGATCAGGCCGTGCTGGGTT	0.537000														27			41		0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163250911	163250911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163250911C>T	uc002uch.2	-	11	2927	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	900					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCTCTCCTTCACTTTCAAAT	0.343000														8			5		0	0	0.001168	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476978	20476978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20476978G>A	uc010bwe.3	+	3	556	c.317G>A	c.(316-318)gGg>gAg	p.G106E	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.G27E|ACSM2A_uc002dhf.4_Missense_Mutation_p.G106E|ACSM2A_uc002dhg.4_Missense_Mutation_p.G106E|ACSM2A_uc010vay.2_Missense_Mutation_p.G27E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R105R(1)|p.R105G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGCAGCGTGGGGATCGTGTG	0.572000														23			10		0	0	0.000673	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285833	248285833	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:248285833C>T	uc001idy.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		AGGTTATTTTCATTTGCTCTA	0.423000														41			53		0	0	0.003610	0	0
NLRP3	114548	broad.mit.edu	37	1	247588527	247588527	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:247588527G>A	uc001icr.3	+	4	1920	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	NLRP3_uc001ics.3_Silent_p.K594K|NLRP3_uc001icu.3_Silent_p.K594K|NLRP3_uc001icw.3_Silent_p.K594K|NLRP3_uc001icv.3_Silent_p.K594K|NLRP3_uc010pyw.2_Silent_p.K592K|NLRP3_uc001ict.1_Silent_p.K592K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	594					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.K594N(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTTGGAGAAGAAATTAAGTT	0.443000														36			10		0	0	0.000673	0	0
PCSK5	5125	broad.mit.edu	37	9	78803514	78803514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:78803514C>T	uc004akc.2	+	17	2841	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	PCSK5_uc004ajz.3_Missense_Mutation_p.S768F|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.S42F	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	768	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCCCGGTGCTCTGTCTCCTGT	0.517000														13			33		0	0	0.003755	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443232	1443232	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1443232C>T	uc003jck.3	-	1	207	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	27					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTCCACCTCCTTCGGGCCCA	0.637000														51			61		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38835425	38835425	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38835425T>G	uc003ciq.3	-	0	77	c.77A>C	c.(76-78)aAg>aCg	p.K26T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	26					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCAATTTGCTTCTCTATCTC	0.498000														58			12		0	0	0.001368	0	0
YWHAG	7532	broad.mit.edu	37	7	75959211	75959211	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:75959211T>C	uc011kgj.1	-	1	644	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	143					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						ACCGTCGCCCTTTTCTCTCCG	0.577000														162			4		0	0	0.000248	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388970	119388970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:119388970C>T	uc022cdm.1	+	0	1700	c.1700C>T	c.(1699-1701)tCa>tTa	p.S567L	ZBTB33_uc010nqm.1_Missense_Mutation_p.S567L|ZBTB33_uc004esn.1_Missense_Mutation_p.S567L	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	567	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTATGTCTTCACATATAAAG	0.393000														54			26		0	0	0.006320	0	0
CLDN20	49861	broad.mit.edu	37	6	155597436	155597436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:155597436G>A	uc003qql.2	+	1	963	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TFB1M_uc003qqj.4_Intron|TFB1M_uc003qqk.3_Intron|CLDN20_uc021zhh.1_Missense_Mutation_p.D195N	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	Homo sapiens claudin 20 (CLDN20), mRNA.	195					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		AGCTAGACTCGACCCACCCAC	0.408000														6			33		0	0	0.002836	0	0
DAXX	1616	broad.mit.edu	37	6	33289050	33289051	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33289050_33289051GG>AA	uc003oec.3	-	2	705_706	c.501_502CC>TT	c.(499-504)gacccc>gaTTcc	p.P168S	DAXX_uc021ywn.1_Missense_Mutation_p.P168S|DAXX_uc021ywo.1_Missense_Mutation_p.P168S|DAXX_uc011dre.2_Missense_Mutation_p.P180S|DAXX_uc003oed.3_Missense_Mutation_p.P168S|DAXX_uc011drd.2_Missense_Mutation_p.P93S|DAXX_uc010juw.2_Missense_Mutation_p.P93S	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	168					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTGTGGGGTCCAAGGAGA	0.589000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									49			30		0	0	0.004672	0	0
IL5RA	3568	broad.mit.edu	37	3	3144438	3144438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:3144438C>T	uc011ask.2	-	4	793	c.149G>A	c.(148-150)tGg>tAg	p.W50*	IL5RA_uc010hbq.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbr.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbs.3_Nonsense_Mutation_p.W50*|IL5RA_uc011asl.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asm.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbt.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asn.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbu.2_Nonsense_Mutation_p.W50*	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	50					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATTTGGTTTCCATTGTAAAAG	0.338000														9			18		0	0	0.006122	0	0
ITK	3702	broad.mit.edu	37	5	156644894	156644894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:156644894C>T	uc003lwo.1	+	4	554	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	158					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGCCTCTTCCTCCTACTCC	0.502000			T	SYK	peripheral T-cell lymphoma									107			137		0	0	0.003610	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072290	17072290	+	Missense_Mutation	SNP	C	T	T	rs141686687		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17072290C>T	uc002zlp.1	-	0	1411	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	384					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTCCGCAGCCCCTGGGTGGT	0.567000														39			59		0	0	0.003610	0	0
SLC2A9	56606	broad.mit.edu	37	4	9922133	9922133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:9922133C>T	uc003gmc.3	-	6	939	c.878G>A	c.(877-879)aGc>aAc	p.S293N	SLC2A9_uc003gmd.3_Missense_Mutation_p.S264N	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	293					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTGCACGCGGCTCTCAGCCAG	0.592000														15			11		0	0	0.000673	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942935	12942935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12942935C>T	uc001aun.2	-	1	352	c.281G>A	c.(280-282)gGg>gAg	p.G94E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	94										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACGAACCCCTAGGTTAAG	0.627000														23			11		0	0	0.000978	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:111996918C>T	uc009wgf.1	+	3	620	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	ATP5F1_uc001ebc.3_Missense_Mutation_p.R55C	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.R55C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438000														14			39		0	0	0.004289	0	0
abParts	0	broad.mit.edu	37	22	22758882	22758882	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:22758882G>A	uc021wml.1	+	61		c.6672G>A								Parts of antibodies, mostly variable regions.																		CAGCTCCCAGGAACAGCCCCC	0.567000														46			21		0	0	0.003954	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945875	6945875	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:6945875G>C	uc002gei.1	-	2	964	c.626C>G	c.(625-627)cCc>cGc	p.P209R		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	209						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCGCCACAGGGGGTGAGGTG	0.692000														1			9		0	0	0.006214	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279316	36279316	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36279316C>T	uc002obs.2	+	20	3510	c.3366C>T	c.(3364-3366)acC>acT	p.T1122T	ARHGAP33_uc002obt.2_Silent_p.T1119T|ARHGAP33_uc002obv.1_Silent_p.T871T	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1283					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGGGCCAGACCCGAAGCTACT	0.597000														3			7		0	0	0.003080	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359326	64359326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64359326G>A	uc001oam.1	+	0	1045	c.298G>A	c.(298-300)Gac>Aac	p.D100N	SLC22A12_uc009ypr.1_Missense_Mutation_p.D100N|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D100N|SLC22A12_uc001oan.1_Missense_Mutation_p.D100N|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	100					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCAGCTCTTGGACCCCAATGC	0.662000														8			11		0	0	0.001368	0	0
CATSPERD	257062	broad.mit.edu	37	19	5766155	5766155	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:5766155C>T	uc002mda.3	+	16	1609	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	CATSPERD_uc010duj.1_Silent_p.I174I	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	516						integral to membrane											ATAAAAAGATCGTCATCCAGA	0.537000														14			24		0	0	0.003954	0	0
TGM6	343641	broad.mit.edu	37	20	2377257	2377257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:2377257G>A	uc002wfy.1	+	3	591	c.530G>A	c.(529-531)tGg>tAg	p.W177*	TGM6_uc010gal.1_Nonsense_Mutation_p.W177*	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	177					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCCCAGGGCTGGAACTACGGG	0.617000														27			14		0	0	0.003163	0	0
WDYHV1	55093	broad.mit.edu	37	8	124448771	124448771	+	Missense_Mutation	SNP	C	T	T	rs145997552		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:124448771C>T	uc003yqn.1	+	3	438	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	WDYHV1_uc011lij.1_Missense_Mutation_p.P45S	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	105					protein modification process	cytosol|nucleus	protein N-terminal glutamine amidohydrolase activity|protein binding	p.P105S(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CTTGCCATTTCCCTGCCTCTT	0.383000														44			12		0	0	0.001368	0	0
DSG1	1828	broad.mit.edu	37	18	28923508	28923508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28923508C>T	uc002kwp.3	+	11	1995	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	595					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGCAATTCATTCATGGGC	0.473000														12			36		0	0	0.002836	0	0
RBM25	58517	broad.mit.edu	37	14	73578360	73578360	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:73578360C>T	uc010ttu.2	+	16	2418	c.2142C>T	c.(2140-2142)ccC>ccT	p.P714P	RBM25_uc001xno.3_Silent_p.P714P|RBM25_uc001xnp.3_Silent_p.P509P	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	714					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AACTGGTTCCCTTGGATTATG	0.378000														64			19		0	0	0.001216	0	0
TMEM225	338661	broad.mit.edu	37	11	123755222	123755222	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:123755222G>A	uc001pzi.3	-	1	511	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	101						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGATGGTAGTGAAGAGTTGTA	0.428000														1			4		0	0	0.000248	0	0
TBR1	10716	broad.mit.edu	37	2	162273610	162273610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:162273610G>A	uc002ubw.1	+	0	991	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCAAACAGGGAAGGTAATAC	0.592000														27			22		0	0	0.001523	0	0
SSFA2	6744	broad.mit.edu	37	2	182766562	182766562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:182766562C>T	uc002uoi.3	+	7	1104	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SSFA2_uc002uoh.3_Missense_Mutation_p.S261F|SSFA2_uc002uoj.3_Missense_Mutation_p.S261F|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.S108F|SSFA2_uc002uol.3_Missense_Mutation_p.S108F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	261						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTCAAGTCTCCGGGACGCCC	0.428000														32			15		0	0	0.004990	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:16254145G>A	uc003car.4	+	5	1742	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	GALNTL2_uc003caq.4_Missense_Mutation_p.D156N	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	423						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D423Y(4)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CCAAAATCAGGATTCCCATTC	0.537000														43			20		0	0	0.007413	0	0
PRKG2	5593	broad.mit.edu	37	4	82013576	82013576	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:82013576C>T	uc003hmh.2	-	16	2170	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	PRKG2_uc011ccf.1_Silent_p.L299L|PRKG2_uc011ccg.1_Silent_p.L299L|PRKG2_uc011cch.1_Silent_p.L690L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	719	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCGTGCTTTCAGTCCCTCCC	0.383000														26			15		0	0	0.006122	0	0
MYO3A	53904	broad.mit.edu	37	10	26459367	26459367	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:26459367G>A	uc001isn.2	+	28	3657	c.3297G>A	c.(3295-3297)agG>agA	p.R1099R	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1099	IQ 2.			R -> G (in Ref. 1 and 2).	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCTTGTCAGGAAACAAAGAA	0.328000														13			6		0	0	0.001168	0	0
OR2A14	135941	broad.mit.edu	37	7	143826566	143826566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143826566C>T	uc011kua.2	+	0	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTCCTATGATCGCTATGCGGA	0.488000														126			31		0	0	0.007291	0	0
CHD7	55636	broad.mit.edu	37	8	61766932	61766932	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:61766932C>T	uc003xue.3	+	31	7278	c.6786C>T	c.(6784-6786)gtC>gtT	p.V2262V	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2262					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAGCTGTCTCTAGAGGGA	0.408000														19			10		0	0	0.000673	0	0
CCDC54	84692	broad.mit.edu	37	3	107097110	107097110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:107097110C>T	uc003dwi.1	+	0	923	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	226										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACGTAACCATCAAAATGCATC	0.378000														34			42		0	0	0.001951	0	0
ATP2B4	493	broad.mit.edu	37	1	203690437	203690437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:203690437C>T	uc001gzw.3	+	16	3608	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	ATP2B4_uc001gzv.3_Missense_Mutation_p.P904L|ATP2B4_uc009xaq.3_Missense_Mutation_p.P904L|ATP2B4_uc001gzx.3_5'Flank|ATP2B4_uc009xar.3_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	904					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGCGGCGCCCCTATGGCCGA	0.488000														42			13		0	0	0.001368	0	0
FKBP6	8468	broad.mit.edu	37	7	72744229	72744229	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:72744229G>A	uc003tya.2	+	3	474	c.342G>A	c.(340-342)ccG>ccA	p.P114P	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.P109P|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	114	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.P114P(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGTTCAAACCGAACTACGCCT	0.537000														21			31		0	0	0.002096	0	0
DNAH9	1770	broad.mit.edu	37	17	11725780	11725780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11725780G>A	uc002gne.3	+	46	8944	c.8876G>A	c.(8875-8877)gGa>gAa	p.G2959E	DNAH9_uc010coo.3_Missense_Mutation_p.G2253E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2959	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCTGTGGGAAACAAGCTA	0.542000														18			62		0	0	0.003610	0	0
ATG16L1	55054	broad.mit.edu	37	2	234178648	234178648	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:234178648G>A	uc002vty.3	+	6	899	c.642_splice	c.e6-1	p.R214_splice	ATG16L1_uc021vyl.1_Splice_Site_p.R98_splice|ATG16L1_uc002vub.3_Splice_Site_p.R91_splice|ATG16L1_uc002vtz.3_Splice_Site_p.R70_splice|ATG16L1_uc002vud.4_Splice_Site_p.R130_splice|ATG16L1_uc002vua.3_Splice_Site_p.R214_splice|ATG16L1_uc002vtx.2_Splice_Site_p.R70_splice	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	214					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)		TTCCCAACAGGAGGCGGCAAG	0.438000														49			16		0	0	0.001523	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028385	21028385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:21028385G>A	uc010sil.2	+	6	1009	c.944G>A	c.(943-945)gGa>gAa	p.G315E	SLCO1B3_uc001rek.3_Missense_Mutation_p.G315E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G315E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	315					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCAACCAAGGAAAAAATGTT	0.299000														11			12		0	0	0.000978	0	0
LGALS9	3965	broad.mit.edu	37	17	25974437	25974437	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:25974437C>T	uc002gzp.3	+	9	1018	c.900C>T	c.(898-900)ttC>ttT	p.F300F	LGALS9_uc002gzq.3_Silent_p.F268F|LGALS9_uc002gzr.3_Silent_p.F211F|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	300	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AAATGCCCTTCGTCCGTGGCC	0.587000														1			37		0	0	0.006230	0	0
OPA3	80207	broad.mit.edu	37	19	46032360	46032360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:46032360C>T	uc002pcj.4	-	1	597	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGGCGGGTCTCGGAGGCAGAG	0.687000														32			24		0	0	0.003954	0	0
SSX8	280659	broad.mit.edu	37	X	52662414	52662414	+	RNA	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:52662414G>A	uc011mob.1	+	7		c.863G>A								Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TCAGCCTGGGGGATATGACAC	0.522000														12			15		0	0	0.004007	0	0
WT1	7490	broad.mit.edu	37	11	32439129	32439129	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:32439129A>G	uc001mtn.2	-	3	1134	c.944T>C	c.(943-945)tTa>tCa	p.L315S	WT1_uc001mtl.2_Missense_Mutation_p.L103S|WT1_uc001mtm.2_Missense_Mutation_p.L103S|WT1_uc001mto.2_Missense_Mutation_p.L315S|WT1_uc001mtq.2_Missense_Mutation_p.L315S|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	247					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A314fs*4(20)|p.A314fs*69(11)|p.A314fs*6(4)|p.A314fs*3(3)|p.A314fs*7(2)|p.A314fs*68(1)|p.A314fs*65(1)|p.A314fs*71(1)|p.A314fs*15(1)|p.S315P(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTACCCCTTTAAGGTGGCTCC	0.373000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					16			12		0	0	0.001855	0	0
TRANK1	9881	broad.mit.edu	37	3	36873700	36873700	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36873700G>A	uc003cgj.3	-	20	7490	c.7242C>T	c.(7240-7242)ttC>ttT	p.F2414F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2414					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGATGAACTGGAACTCCAGGA	0.512000														96			23		0	0	0.006320	0	0
LRTM1	57408	broad.mit.edu	37	3	54952821	54952821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:54952821G>A	uc003dhl.3	-	2	837	c.703C>T	c.(703-705)Cct>Tct	p.P235S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	235						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCAGGAGCAGGAAGAGGGCAG	0.607000														15			4		0	0	0.000248	0	0
SLC1A1	6505	broad.mit.edu	37	9	4572216	4572216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:4572216G>A	uc003zij.2	+	6	848	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	199					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CAAAACAAAGGAATACAAAAT	0.368000														39			34		0	0	0.006230	0	0
ATP11C	286410	broad.mit.edu	37	X	138878601	138878601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:138878601G>A	uc004faz.3	-	11	1145	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.S349L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	349					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACCATAAATGATAGGAAGTC	0.333000														23			23		0	0	0.003330	0	0
KCNK9	51305	broad.mit.edu	37	8	140630522	140630522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:140630522C>T	uc003yvf.1	-	1	1168	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	KCNK9_uc003yvg.1_Missense_Mutation_p.M368I|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	368						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCGGCGTTTCATCAGCCTCT	0.468000														50			66		0	0	0.003610	0	0
C10orf120	399814	broad.mit.edu	37	10	124459188	124459188	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124459188A>C	uc001lgn.3	-	0	151	c.119T>G	c.(118-120)tTt>tGt	p.F40C		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	40										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGATCCTGAAAGGAAGAGTT	0.443000														27			6		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13763005	13763005	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13763005G>A	uc003jfd.2	-	59	10149	c.10107C>T	c.(10105-10107)ttC>ttT	p.F3369F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3369	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F3369L(2)		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)					TGTCTTTTGGGAATTGCTATG	0.368000									Kartagener syndrome					23			24		0	0	0.005443	0	0
LRRC27	80313	broad.mit.edu	37	10	134175022	134175022	+	Missense_Mutation	SNP	C	T	T	rs139048900		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:134175022C>T	uc010quw.1	+	8	1427	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.P411L|LRRC27_uc001llj.2_Missense_Mutation_p.P349L|LRRC27_uc001llk.4_Missense_Mutation_p.P284L	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	411										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACTGAATCCGCCTGGAAAA	0.453000														32			40		0	0	0.007835	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464637	30464637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:30464637G>A	uc003xig.3	-	5	833	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	194					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	p.R194H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTATCGGGACGATTTACAAAT	0.303000														29			32		0	0	0.003271	0	0
AGTR2	186	broad.mit.edu	37	X	115303632	115303632	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:115303632G>A	uc022cdd.1	+	0	99	c.99G>A	c.(97-99)ttG>ttA	p.L33L	AGTR2_uc004eqh.4_Silent_p.L33L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	33					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AGTCTACCTTGAACTGTTCAC	0.393000														13			9		0	0	0.004482	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521202	86521202	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:86521202C>T	uc011kha.2	-	20	3053	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L	KIAA1324L_uc003uie.3_Silent_p.L789L|KIAA1324L_uc011kgz.2_Silent_p.L842L|KIAA1324L_uc003uif.2_Silent_p.L708L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	956						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATTTGTATTCCAGTCTAAATA	0.303000														2			3		0	0	0.004672	0	0
ODZ3	55714	broad.mit.edu	37	4	183714623	183714623	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:183714623G>A	uc003ivd.1	+	24	6873	c.6798G>A	c.(6796-6798)tcG>tcA	p.S2266S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2266					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACAACCATTCGAGTTCAGAAA	0.413000														16			19		0	0	0.001216	0	0
SDPR	8436	broad.mit.edu	37	2	192700988	192700988	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:192700988G>A	uc002utb.3	-	1	1294	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	313						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTCTGACTTGGTCTCATTTT	0.532000														76			58		0	0	0.003610	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069633	114069633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:114069633G>A	uc003ebi.3	-	3	1472	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	ZBTB20_uc003ebj.3_Missense_Mutation_p.S358F|ZBTB20_uc010hqp.3_Missense_Mutation_p.S358F|ZBTB20_uc003ebk.3_Missense_Mutation_p.S358F|ZBTB20_uc003ebl.3_Missense_Mutation_p.S358F|ZBTB20_uc003ebm.3_Missense_Mutation_p.S358F|ZBTB20_uc003ebn.3_Missense_Mutation_p.S358F|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A430S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTCCGGAGAGGAAGCACCTGT	0.597000														72			36		0	0	0.005524	0	0
CCBP2	1238	broad.mit.edu	37	3	42906050	42906050	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:42906050A>T	uc003cme.3	+	2	234	c.56A>T	c.(55-57)aAt>aTt	p.N19I	CCBP2_uc003cmf.3_Missense_Mutation_p.N19I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.N19I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	19					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GATTCTGAGAATAGCAGCTTC	0.557000														40			15		0	0	0.002450	0	0
TECTA	7007	broad.mit.edu	37	11	120989291	120989291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120989291C>T	uc010rzo.2	+	5	1067	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	356	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGCAGACTTCCAGCCTCCCT	0.557000														25			18		0	0	0.007413	0	0
POLL	27343	broad.mit.edu	37	10	103340064	103340065	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:103340064_103340065GG>AA	uc001ktg.1	-	6	2069_2070	c.1303_1304CC>TT	c.(1303-1305)cca>TTa	p.P435L	DPCD_uc010qpz.2_Splice_Site|POLL_uc001ktd.1_Missense_Mutation_p.P108L|POLL_uc001kte.1_Missense_Mutation_p.P127L|POLL_uc001kth.1_Missense_Mutation_p.P160L|POLL_uc001ktj.2_Missense_Mutation_p.P435L|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.P343L|POLL_uc001kti.2_Missense_Mutation_p.P435L|POLL_uc001ktl.3_Missense_Mutation_p.P347L|POLL_uc001ktm.3_Missense_Mutation_p.P435L|POLL_uc010qqc.2_Missense_Mutation_p.P127L|POLL_uc010qqa.2_Missense_Mutation_p.P174L	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	435					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCGGCCATCTGGGTGAGTGATG	0.589000								DNA polymerases (catalytic subunits)						48			5		0	0	0.004672	0	0
SPATA20	64847	broad.mit.edu	37	17	48626509	48626509	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:48626509G>T	uc002ird.3	+	5	763	c.622G>T	c.(622-624)Gtc>Ttc	p.V208F	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.V148F|SPATA20_uc002irf.3_Missense_Mutation_p.V192F|SPATA20_uc010wmv.1_Missense_Mutation_p.V218F|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	192					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTTGACCCGAGTCGGCTTCCG	0.632000														14			90		1.59803e-59	2.11054e-59	0.003610	1	0
C11orf82	220042	broad.mit.edu	37	11	82642923	82642923	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:82642923C>T	uc001ozt.3	+	5	787	c.543C>T	c.(541-543)ttC>ttT	p.F181F	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	181					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGACTACTTCCATCAACTTT	0.413000														42			20		0	0	0.001523	0	0
DACH1	1602	broad.mit.edu	37	13	72440848	72440848	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:72440848G>A	uc021rkj.1	-	0	483	c.60C>T	c.(58-60)atC>atT	p.I20I	DACH1_uc021rkk.1_Silent_p.I20I|DACH1_uc021rkl.1_Silent_p.I20I	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	20					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGACGTGGAGATTGGGGGTT	0.637000														12			10		0	0	0.000673	0	0
MCHR2	84539	broad.mit.edu	37	6	100395829	100395829	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:100395829G>A	uc003pqh.1	-	2	516	c.201C>T	c.(199-201)gtC>gtT	p.V67V	MCHR2_uc003pqi.1_Silent_p.V67V	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	67						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGATGTCAGGGACTGTTTTTT	0.418000														1			17		0	0	0.007413	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739392	46739392	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:46739392G>A	uc021vgv.1	-	0	459	c.459C>T	c.(457-459)ccC>ccT	p.P153P	ATP6V1E2_uc002ruy.3_Silent_p.P153P	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	153					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	p.P153P(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCATGTACTCGGGGATGGCTT	0.542000														54			33		0	0	0.002836	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539651	48539651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:48539651C>T	uc001zwn.4	+	12	1894	c.1678C>T	c.(1678-1680)Ctt>Ttt	p.L560F	SLC12A1_uc010uew.1_Missense_Mutation_p.L366F|SLC12A1_uc010bem.3_Missense_Mutation_p.L560F|SLC12A1_uc001zwq.4_Missense_Mutation_p.L331F|SLC12A1_uc001zwr.4_Missense_Mutation_p.L287F	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	560					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCATTTATTCTTATTGGTTT	0.318000														19			6		0	0	0.001168	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821485	40821485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:40821485C>T	uc002iau.2	-	11	2635	c.2168G>A	c.(2167-2169)aGg>aAg	p.R723K	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	723	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCTCCCACCCTCAAGGCCAG	0.622000														6			39		0	0	0.002222	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027171	92027171	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:92027171C>T	uc003ulw.2	+	18	2906	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	ANKIB1_uc010lew.1_Nonsense_Mutation_p.Q113*	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	844							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGACTCTCTTCAGGTAGCCTT	0.488000														41			60		0	0	0.003610	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069409	241069410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:241069409_241069410GG>AA	uc002vyu.1	-	3	299_300	c.299_300CC>TT	c.(298-300)tcc>tTT	p.S100F		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CGGGAACCATGGAGGACTGCTG	0.604000														34			22		0	0	0.004672	0	0
AKAP13	11214	broad.mit.edu	37	15	86125290	86125290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:86125290G>A	uc002blv.1	+	6	4161	c.3991G>A	c.(3991-3993)Gag>Aag	p.E1331K	AKAP13_uc002blt.1_Missense_Mutation_p.E1331K|AKAP13_uc002blu.1_Missense_Mutation_p.E1331K|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1331					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGAAGGGAGGAGCCAGAGAA	0.498000														55			11		0	0	0.001855	0	0
FGD2	221472	broad.mit.edu	37	6	36979536	36979536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:36979536G>A	uc010jwp.1	+	3	604	c.433G>A	c.(433-435)Gat>Aat	p.D145N	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	145	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTTCCCAGAGGATGTGGTCAG	0.582000														10			54		0	0	0.003610	0	0
KDM3B	51780	broad.mit.edu	37	5	137727227	137727227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:137727227C>T	uc003lcy.1	+	7	2106	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	KDM3B_uc010jew.1_Missense_Mutation_p.P292S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCTTCTAATCCTTTCCTGGC	0.488000														52			21		0	0	0.002780	0	0
OR51B4	79339	broad.mit.edu	37	11	5322889	5322889	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5322889G>A	uc010qza.2	-	0	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507000														28			13		0	0	0.001855	0	0
CRY2	1408	broad.mit.edu	37	11	45891260	45891260	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:45891260C>T	uc010rgn.2	+	6	1171	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	CRY2_uc009ykw.3_Silent_p.I301I|CRY2_uc010rgo.2_Silent_p.I105I	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	362	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TTGATGCCATCATGACCCAAC	0.652000														34			17		0	0	0.004990	0	0
ABCB6	10058	broad.mit.edu	37	2	220079733	220079733	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:220079733A>C	uc002vkc.2	-	5	3005	c.1226T>G	c.(1225-1227)tTc>tGc	p.F409C	ABCB6_uc010fwe.2_Missense_Mutation_p.F363C|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	409	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGCGTTGAAGAACATGCT	0.512000														41			38		0	0	0.006999	0	0
FMO1	2326	broad.mit.edu	37	1	171247933	171247933	+	Missense_Mutation	SNP	G	A	A	rs138773316		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:171247933G>A	uc009wvz.3	+	4	686	c.550G>A	c.(550-552)Gac>Aac	p.D184N	FMO1_uc010pme.2_Missense_Mutation_p.D121N|FMO1_uc001ghl.3_Missense_Mutation_p.D184N|FMO1_uc001ghm.3_Missense_Mutation_p.D184N	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	184					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATATTTAAGGACAAGAGAGT	0.418000														15			17		0	0	0.006122	0	0
USP26	83844	broad.mit.edu	37	X	132161740	132161741	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:132161740_132161741CC>TT	uc011mvf.2	-	0	560_561	c.508_509GG>AA	c.(508-510)gga>AAa	p.G170K	USP26_uc010nrm.1_Missense_Mutation_p.G170K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	170					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGATAACTCTCCGCAAGTAAGT	0.376000														24			10		0	0	0.004672	0	0
DNAH1	25981	broad.mit.edu	37	3	52391976	52391976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52391976C>T	uc011bef.2	+	23	4304	c.4043C>T	c.(4042-4044)gCc>gTc	p.A1348V		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1348	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCCCACGGCCGTGCAGCCA	0.617000														31			9		0	0	0.001368	0	0
ABCB5	340273	broad.mit.edu	37	7	20768058	20768058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:20768058G>A	uc010kuh.3	+	22	3084	c.2847G>A	c.(2845-2847)atG>atA	p.M949I	ABCB5_uc003suw.4_Missense_Mutation_p.M504I|ABCB5_uc003sux.1_Missense_Mutation_p.M127I	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	504					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTGGACGAATGACCCCAGAGG	0.468000														18			32		0	0	0.001786	0	0
PRKCG	5582	broad.mit.edu	37	19	54410031	54410031	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54410031G>T	uc002qcq.1	+	17	2258	c.1976G>T	c.(1975-1977)cGc>cTc	p.R659L	PRKCG_uc010yeg.1_Missense_Mutation_p.R659L|PRKCG_uc010yeh.1_Missense_Mutation_p.R510L	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	659	AGC-kinase C-terminal.		R -> S.		activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTCCAGACCGCCTAGTCCTG	0.652000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			23		7.87624e-14	1.03621e-13	0.002780	1	0
IL20RB	53833	broad.mit.edu	37	3	136710872	136710872	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:136710872C>T	uc003eri.2	+	4	873	c.624C>T	c.(622-624)ttC>ttT	p.F208F	IL20RB_uc003erj.2_Intron|IL20RB_uc010hud.2_Silent_p.F66F	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	208	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCCAGACATTCGTGAAGGCCA	0.542000														64			16		0	0	0.004007	0	0
C19orf44	84167	broad.mit.edu	37	19	16614027	16614027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:16614027C>T	uc002neh.1	+	2	984	c.911C>T	c.(910-912)tCc>tTc	p.S304F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S304F|C19orf44_uc002neg.3_Missense_Mutation_p.S304F|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	304										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGTCACGTTTCCAGTGACACC	0.552000														59			14		0	0	0.002450	0	0
NUP35	129401	broad.mit.edu	37	2	183993134	183993134	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:183993134A>T	uc002upf.3	+	1	263	c.160A>T	c.(160-162)Att>Ttt	p.I54F	NUP35_uc010zfs.2_Missense_Mutation_p.I36F|NUP35_uc010zft.2_5'UTR|NUP35_uc002upg.3_Non-coding_Transcript	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	54					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						ACCTCGATCAATTAGTGGCCC	0.438000														23			9		0	0	0.000673	0	0
GPR98	84059	broad.mit.edu	37	5	90012448	90012448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:90012448G>A	uc003kju.3	+	42	9445	c.9349G>A	c.(9349-9351)Gtt>Att	p.V3117I	GPR98_uc003kjt.3_Missense_Mutation_p.V823I|GPR98_uc003kjv.3_Missense_Mutation_p.V717I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3117					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)		AACAGTGACAGTTCAGTTCAT	0.413000														30			15		0	0	0.003163	0	0
PSG7	5676	broad.mit.edu	37	19	43439621	43439621	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:43439621A>G	uc002ovl.4	-	2	464	c.362T>C	c.(361-363)tTa>tCa	p.L121S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	122	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TATGATGTGTAAAGTGTAGGA	0.478000														179			53		0	0	0.003610	0	0
CUZD1	50624	broad.mit.edu	37	10	124593308	124593308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124593308G>A	uc001lgs.3	-	9	2482	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	CUZD1_uc001lgp.3_Missense_Mutation_p.R230C|CUZD1_uc009yad.3_Missense_Mutation_p.R230C|CUZD1_uc009yaf.3_Missense_Mutation_p.R145C|CUZD1_uc001lgr.3_Missense_Mutation_p.R230C|CUZD1_uc010qty.2_Missense_Mutation_p.R230C|CUZD1_uc009yae.3_Missense_Mutation_p.R230C|CUZD1_uc010qtz.2_Missense_Mutation_p.R511C	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	511	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGATTGCAGCGAGACTGGTGG	0.408000														23			15		0	0	0.004007	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913701	77913701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:77913701C>T	uc022bzi.1	-	0	217	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	ZCCHC5_uc004edc.1_Missense_Mutation_p.A73T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	73	Pro-rich.						nucleic acid binding|zinc ion binding	p.A73T(2)|p.A72E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCTCCCAGGCTGCTGGGGGA	0.587000														14			7		0	0	0.001984	0	0
PEG3	5178	broad.mit.edu	37	19	57286721	57286721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:57286721G>A	uc002qnr.2	-	10	1301	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Nonsense_Mutation_p.Q103*|PEG3_uc010ygq.1_Nonsense_Mutation_p.Q103*|PEG3_uc010etp.2_Nonsense_Mutation_p.Q307*|PEG3_uc010ygs.1_Nonsense_Mutation_p.Q307*|PEG3_uc002qnq.2_Nonsense_Mutation_p.Q307*	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	457					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGCCTTCCTGGGGATCCTTT	0.458000														22			47		0	0	0.003214	0	0
CRY2	1408	broad.mit.edu	37	11	45891313	45891313	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:45891313T>G	uc010rgn.2	+	6	1224	c.1202T>G	c.(1201-1203)gTg>gGg	p.V401G	CRY2_uc009ykw.3_Missense_Mutation_p.V319G|CRY2_uc010rgo.2_Missense_Mutation_p.V123G	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	380	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CGGCATGCCGTGGCCTGCTTC	0.642000														18			15		0	0	0.006122	0	0
TRRAP	8295	broad.mit.edu	37	7	98560040	98560040	+	Silent	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98560040C>T	uc003upp.3	+	45	7007	c.6798C>T	c.(6796-6798)tcC>tcT	p.S2266S	TRRAP_uc011kis.2_Silent_p.S2248S|TRRAP_uc003upr.3_Silent_p.S1965S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2266	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAATCCCTCCCAGCTCTTCG	0.567000														36			83		0	0	0.003610	0	0
OR4X1	390113	broad.mit.edu	37	11	48285814	48285814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:48285814G>A	uc010rht.2	+	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGGCCATCATGAACCAGCGAA	0.557000														25			9		0	0	0.000673	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228530	112228530	+	Silent	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:112228530G>A	uc021ycm.1	+	0	1222	c.1194G>A	c.(1192-1194)ggG>ggA	p.G398G	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						AAAGAAATGGGGAATCCGAGA	0.502000														13			4		0	0	0.001168	0	0
GRIA1	2890	broad.mit.edu	37	5	153143996	153143996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:153143996C>T	uc011dcy.2	+	11	1883	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	GRIA1_uc003lva.4_Missense_Mutation_p.S609F|GRIA1_uc003luy.4_Missense_Mutation_p.S609F|GRIA1_uc003luz.4_Missense_Mutation_p.S514F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S529F|GRIA1_uc011dcx.2_Missense_Mutation_p.S540F|GRIA1_uc011dcz.2_Missense_Mutation_p.S619F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	609					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.V618I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTGCAGGTCCCTGTCTGGT	0.587000														26			12		0	0	0.001368	0	0
SCN10A	6336	broad.mit.edu	37	3	38770244	38770244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38770244C>T	uc003ciq.3	-	14	2429	c.2429G>A	c.(2428-2430)gGg>gAg	p.G810E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	810					sensory perception	voltage-gated sodium channel complex		p.G810V(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTAGTTTTCCCCTAGGAGCTG	0.517000														32			42		0	0	0.002222	0	0
HERC2	8924	broad.mit.edu	37	15	28502359	28502359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:28502359G>A	uc001zbj.3	-	16	2471	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	HERC2_uc001zbl.1_Missense_Mutation_p.P484S	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	789					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCACAAAAGGGACACGGAGG	0.532000														39			13		0	0	0.002450	0	0
INTS8	55656	broad.mit.edu	37	8	95869077	95869077	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:95869077C>T	uc003yhb.3	+	14	1951	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	INTS8_uc003yha.1_Nonsense_Mutation_p.Q609*|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Nonsense_Mutation_p.Q436*	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	609					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAAGCTTCGTCAGGTCATGCT	0.463000														233			396		0	0	0.003610	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218276	57218276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:57218276G>A	uc010lyk.1	-	5	1354	c.716C>T	c.(715-717)cCt>cTt	p.P239L	SDR16C5_uc003xsy.1_Missense_Mutation_p.P239L|SDR16C5_uc010lyl.1_Missense_Mutation_p.P195L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	239					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAACAGAGAAGGACAGCTAGG	0.294000														18			20		0	0	0.001882	0	0
TMEM140	55281	broad.mit.edu	37	7	134849432	134849433	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:134849432_134849433insG	uc003vsi.3	+	1	520_521	c.239_240insG	c.(238-240)ctgfs	p.L80fs	C7orf49_uc003vsh.3_Intron|TMEM140_uc022aly.1_Frame_Shift_Ins_p.L80fs	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	Homo sapiens transmembrane protein 140 (TMEM140), mRNA.	80						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CGGGTTGGCCTGGGCCTGGCCA	0.624													---	103	---	---	22	---					
PPP1R26	9858	broad.mit.edu	37	9	138379510	138379511	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:138379510_138379511insG	uc022bpi.1	+	0	3154_3155	c.3154_3155insG	c.(3154-3156)aggfs	p.R1052fs	PPP1R26_uc004cfr.1_Frame_Shift_Ins_p.R1052fs	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	1052						nucleolus	protein binding										TGCAGTGTGGAGGGGGGGCGTC	0.738													---	4	---	---	2	---					
ZSCAN29	146050	broad.mit.edu	37	15	43653379	43653380	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:43653379_43653380insTAT	uc001zrk.1	-	4	2597_2598	c.2450_2451insATA	c.(2449-2451)ccc>ccATAc	p.818_819insY	ZSCAN29_uc001zrj.1_In_Frame_Ins_p.698_699insY|ZSCAN29_uc010bdg.1_In_Frame_Ins_p.428_429insY|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	818					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACACCCATAGGGTTTCTCTCC	0.480													---	71	---	---	21	---					
NF1	4763	broad.mit.edu	37	17	29560024	29560034	+	Frame_Shift_Del	DEL	AGGTTACCACA	-	-			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:29560024_29560034delAGGTTACCACA	uc002hgg.3	+	26	3884_3894	c.3501_3511delAGGTTACCACA	c.(3499-3513)ttaggttaccacaagfs	p.L1167fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L1167fs|NF1_uc010csn.2_Frame_Shift_Del_p.L1027fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L200fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1167					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTAGGCTTAGGTTACCACAAGGATCTCCA	0.389			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	8	---	---	26	---					
BCL3	602	broad.mit.edu	37	19	45252260	45252261	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45252260_45252261insC	uc010xxe.2	+	0	283_284	c.213_214insC	c.(211-216)gggcccfs	p.G71fs		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	71	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGGTCCCCGGGCCCCCCCACGG	0.787			T	IGH@	CLL								---	4	---	---	2	---