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
DLX6	1750	broad.mit.edu	37	7	96635340	96635340	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:96635340C>T	uc022ahu.1	+	0	51	c.51C>T	c.(49-51)tcC>tcT	p.S17S	DLX6-AS1_uc003uok.3_5'Flank|DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGGACTCGTCCAAATCCGCCT	0.617000														28			3		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601810	38601810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:38601810C>T	uc021wvo.1	-	21	4125	c.4073G>A	c.(4072-4074)gGg>gAg	p.G1358E	SCN5A_uc021wvk.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1304E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvq.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvr.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvs.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvt.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvu.1_Missense_Mutation_p.G1304E|SCN5A_uc021wvv.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvj.1_Missense_Mutation_p.G1170E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1224E|SCN5A_uc021wvw.1_Missense_Mutation_p.G968E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1358					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)	CCCAAACTTCCCCGCAAAGAG	0.542000														85			12		0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197924	74197924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:74197924G>A	uc003ubb.3	+	6	701	c.631G>A	c.(631-633)Gag>Aag	p.E211K	NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	211	Asp/Glu-rich (highly acidic).|SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTCCTTCCTCGAGCCCCTGGA	0.637000														94			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13754425	13754425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:13754425C>T	uc003jfd.2	-	61	10484	c.10442G>A	c.(10441-10443)cGa>cAa	p.R3481Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3481	Stalk (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)					GTGTCTGCATCGCTCTGCATC	0.418000									Kartagener syndrome					65			10		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95656847	95656847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:95656847C>T	uc001tdz.2	+	3	529	c.424C>T	c.(424-426)Cct>Tct	p.P142S	VEZT_uc001tds.3_Missense_Mutation_p.P94S|VEZT_uc001tdv.3_Missense_Mutation_p.P111S|VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tdt.2_Missense_Mutation_p.P94S|VEZT_uc009zsz.1_Missense_Mutation_p.P142S|VEZT_uc001tdw.1_Missense_Mutation_p.P94S|VEZT_uc009zta.1_Missense_Mutation_p.P94S	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	142						acrosomal vesicle|adherens junction|integral to membrane|nucleus		p.P142H(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CCTGGCAACCCCTAATATTTG	0.448000														175			11		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261570	24261570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:24261570G>A	uc003xdz.2	+	12	1595	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	ADAMDEC1_uc010lub.2_Missense_Mutation_p.D380N|ADAMDEC1_uc011lab.1_Missense_Mutation_p.D380N	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	459	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCCTGGAACTGATTGCGGAGG	0.408000														26			7		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040329	247040329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:247040329G>A	uc001ibv.2	-	22	2984	c.2887C>T	c.(2887-2889)Ctt>Ttt	p.L963F	AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	954	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCACTAAAAGGAATTCATGA	0.348000														38			4		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278624	50278624	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr18:50278624C>T	uc002lfe.2	+	1	908	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	98	Ig-like C2-type 1.				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)		TGGGTCTCTGCTGATACAAAA	0.458000														62			7		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74309493	74309493	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:74309493A>C	uc011lsa.1	-	20	4168	c.3628T>G	c.(3628-3630)Tac>Gac	p.Y1210D	TMEM2_uc011lrz.1_Missense_Mutation_p.Y203D|TMEM2_uc010mos.2_Missense_Mutation_p.Y1147D|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.Y44D	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1210						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACAGGGAGGTAACTTTTATGA	0.423000														43			12		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31642763	31642763	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:31642763T>A	uc001wrc.1	-	4	1342	c.853A>T	c.(853-855)Aca>Tca	p.T285S		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	285					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)		CTGCAAAGTGTTGAGAGCAGA	0.393000														79			20		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989612	47989612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:47989612C>T	uc002xur.1	-	1	2651	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	KCNB1_uc002xus.1_Missense_Mutation_p.E829K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	829					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E829K(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCACTTTTCCTGACCACTG	0.522000														50			6		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104048398	104048398	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:104048398C>T	uc001tjw.3	+	12	1659	c.1473C>T	c.(1471-1473)atC>atT	p.I491I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	491	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGGGGACATCATTGCTTCCA	0.368000														58			5		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873580	36873580	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:36873580C>T	uc003cgj.3	-	20	7610	c.7362G>A	c.(7360-7362)aaG>aaA	p.K2454K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2454					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						CCCCAAGCTCCTTGTCCTTCT	0.512000														60			11		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49722209	49722209	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:49722209C>T	uc003cxg.3	-	14	1803	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	563	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCCTGAGGGCCCACACACCA	0.612000														70			10		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31995761	31995761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:31995761G>A	uc003jhl.3	+	3	1446	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	PDZD2_uc003jhm.3_Missense_Mutation_p.G353E|PDZD2_uc011cnx.1_Missense_Mutation_p.G179E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	353	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGGCCGAGGATCAAAGCGC	0.532000														60			14		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:40816901C>G	uc003ayv.1	-	6	1038	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_uc010gyf.1_Missense_Mutation_p.Q227H|MKL1_uc003ayw.1_Missense_Mutation_p.Q277H|MKL1_uc010gye.1_Missense_Mutation_p.Q277H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	277	Gln-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						GCTGCTGCTGCTGGTTGAGGA	0.657000			T	RBM15	acute megakaryocytic leukemia									94			4		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684283	41684283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr21:41684283G>A	uc002yyq.1	-	8	2239	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	596	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P596P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATGAAAGGCGGAACTGCAAG	0.448000														18			3		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855918	31855918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:31855918G>A	uc003nxz.1	-	12	1655	c.1645C>T	c.(1645-1647)Ccc>Tcc	p.P549S	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P340S|EHMT2_uc011don.1_Missense_Mutation_p.P572S|EHMT2_uc003nya.1_Missense_Mutation_p.P515S	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	549					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCACCCCGGGGGATGGTCACC	0.652000														48			6		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174541	150174541	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:150174541G>A	uc003whj.3	+	4	2001	c.1671G>A	c.(1669-1671)acG>acA	p.T557T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	557						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.T557R(1)		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)		CAGACTTTACGAAATACGCGA	0.493000														92			26		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112402	59112403	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:59112402_59112403GG>AA	uc001xdw.3	+	3	1225_1226	c.1061_1062GG>AA	c.(1060-1062)agg>aAA	p.R354K	DACT1_uc010trv.2_Missense_Mutation_p.R73K|DACT1_uc001xdx.3_Missense_Mutation_p.R317K|DACT1_uc010trw.2_Missense_Mutation_p.R73K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	354					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus		p.R354S(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CACCCTGTAAGGACCAACAAAC	0.554000														22			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064264	34064264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:34064264C>T	uc001zhi.3	+	62	9030	c.8960C>T	c.(8959-8961)tCt>tTt	p.S2987F	RYR3_uc010bar.3_Missense_Mutation_p.S2987F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2987					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)		AAAGGCGTTTCTCAGAATATT	0.453000														33			6		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621770	65621770	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:65621770G>A	uc002aos.2	-	12	2415	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	IGDCC3_uc002aor.1_Silent_p.F8F	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	721								p.F721L(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCGGGGGGAACAGCTGCT	0.637000														243			44		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714413	183714413	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:183714413C>T	uc003ivd.1	+	24	6663	c.6588C>T	c.(6586-6588)ttC>ttT	p.F2196F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2196					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)		AAGATGGTTTCCTACGTCAAA	0.488000														57			16		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347210	31347210	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:31347210C>A	uc001bse.2	-	3	1143	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	SDC3_uc001bsd.2_Missense_Mutation_p.D308Y	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	366						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCGAGTCGATGGCATTG	0.667000														56			10		4.3838e-07	4.48695e-07	1	1	0
TNS3	64759	broad.mit.edu	37	7	47343143	47343143	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:47343143G>A	uc003tnw.3	-	21	3220	c.2862C>T	c.(2860-2862)ccC>ccT	p.P954P	TNS3_uc022acn.1_Silent_p.P511P	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	954						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCATGGGCTTGGGGCTGCTCT	0.597000														7			5		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365890	88365890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:88365890G>A	uc003ydy.2	+	9	1227	c.1179G>A	c.(1177-1179)atG>atA	p.M393I		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	393										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTGTTTATATGGGGAAACTTA	0.323000														11			3		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772793	113772793	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:113772793C>G	uc001vsv.3	+	8	923	c.872C>G	c.(871-873)cCc>cGc	p.P291R	F7_uc001vsw.3_Missense_Mutation_p.P269R|F7_uc010tjt.2_Missense_Mutation_p.P222R	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	291	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCATCATCCCCAGCACGTAC	0.682000														145			9		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3115487	3115487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:3115487G>A	uc001lxk.2	-	14	1857	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	OSBPL5_uc010qxq.1_Nonsense_Mutation_p.Q478*|OSBPL5_uc009ydw.2_Nonsense_Mutation_p.Q499*|OSBPL5_uc001lxl.2_Nonsense_Mutation_p.Q499*|OSBPL5_uc009ydx.3_Nonsense_Mutation_p.Q591*|OSBPL5_uc001lxj.2_Nonsense_Mutation_p.Q21*	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	567					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATTCCAGCTGGGCCTGGAAG	0.597000														43			8		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693210	75693210	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:75693210T>A	uc002bai.3	-	10	1857	c.1598A>T	c.(1597-1599)tAt>tTt	p.Y533F	SIN3A_uc002baj.3_Missense_Mutation_p.Y533F|SIN3A_uc010uml.2_Missense_Mutation_p.Y533F	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	533	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCCTTTGGATAAGTTTCCAG	0.418000														31			3		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75530502	75530502	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:75530502G>A	uc001juw.3	+	22	3270	c.3090G>A	c.(3088-3090)aaG>aaA	p.K1030K	SEC24C_uc001jux.3_Silent_p.K1030K|SEC24C_uc010qko.2_Silent_p.K911K|SEC24C_uc010qkp.2_Silent_p.K278K|SEC24C_uc010qkq.2_Silent_p.K278K|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	1030					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CACTGTCCAAGAAGGTTCGAG	0.463000														80			14		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515025	195515025	+	Silent	SNP	A	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:195515025A>G	uc021xjp.1	-	1	3582	c.3426T>C	c.(3424-3426)acT>acC	p.T1142T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1019					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T1142T(1)		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)		ATACTGAGGAAGTGTCGGTGA	0.562000														5			3		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129185	26129185	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:26129185C>T	uc001uqk.3	+	12	1384	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	ATP8A2_uc010tdi.2_Silent_p.N374N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.N374N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	374					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	p.S413*(2)		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)		GGACATCAAACCTTAATGAAG	0.428000														28			3		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450805	105450805	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:105450805G>A	uc022cca.1	+	0	1380	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	MUM1L1_uc004emg.2_Silent_p.E460E|MUM1L1_uc004emf.2_Silent_p.E460E	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	460								p.E460Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGCCAGGGAGGATTATAGTG	0.358000														30			6		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	555569	555569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:555569G>A	uc002chf.3	+	7	1780	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	RAB11FIP3_uc010uuf.2_Missense_Mutation_p.A185T|RAB11FIP3_uc010uug.2_Missense_Mutation_p.A216T	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	481					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AAAGGACACGGCAGCCACCGG	0.642000														18			8		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346628	89346628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:89346628C>T	uc002fmx.1	-	8	6783	c.6322G>A	c.(6322-6324)Ggc>Agc	p.G2108S	ANKRD11_uc002fmy.1_Missense_Mutation_p.G2108S|ANKRD11_uc002fnc.1_Missense_Mutation_p.G2108S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.G2065S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2108	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAGACAGGCCGCGGCTGCCG	0.731000														12			4		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241404942	241404942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:241404942G>A	uc002vyw.4	+	7	1542	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	441					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAACAACCCCGAGGTGGAGGT	0.622000														103			14		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044728	119044728	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:119044728G>C	uc001pvu.3	+	4	985	c.770G>C	c.(769-771)gGa>gCa	p.G257A	NLRX1_uc010rzc.1_Missense_Mutation_p.G79A|NLRX1_uc001pvv.3_Missense_Mutation_p.G257A|NLRX1_uc001pvw.3_Missense_Mutation_p.G257A|NLRX1_uc001pvx.3_Missense_Mutation_p.G257A	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	257	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.T256T(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAGGCACGGGACTTTGTAGT	0.592000														64			9		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53513522	53513522	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:53513522G>A	uc001xai.3	-	12	2897	c.2667C>T	c.(2665-2667)caC>caT	p.H889H	DDHD1_uc001xaj.3_Silent_p.H868H|DDHD1_uc001xah.3_Silent_p.H861H|DDHD1_uc001xag.3_Silent_p.H443H	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	889					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CATCATCATCGTGCTCATGTT	0.398000														66			7		0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1522331	1522331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:1522331G>A	uc004cpx.2	-	12	1834	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	CRLF2_uc022brt.1_Intron|ASMTL-AS1_uc004cpv.3_Intron|ASMTL-AS1_uc004cpw.3_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.A550V|ASMTL_uc011mhe.2_Missense_Mutation_p.A490V|ASMTL_uc011mhf.2_Missense_Mutation_p.A508V	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	566	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				GGCGCGCTGCGCCACCCTCTT	0.652000														117			16		0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232576081	232576081	+	Silent	SNP	T	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:232576081T>C	uc002vsc.4	+	1	251	c.69T>C	c.(67-69)gtT>gtC	p.V23V	PTMA_uc002vsb.4_Silent_p.V23V|PTMA_uc010zmf.2_Non-coding_Transcript|PTMA_uc021vyc.1_5'Flank	NM_001099285	NP_001092755	P06454	PTMA_HUMAN	Homo sapiens prothymosin, alpha (PTMA), transcript variant 1, mRNA.	23					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGAAGGAAGTTGTGGAAGAGG	0.502000														59			6		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19211483	19211483	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:19211483G>A	uc021wle.1	-	13	2298	c.2223C>T	c.(2221-2223)atC>atT	p.I741I	CLTCL1_uc021wld.1_Silent_p.I741I|CLTCL1_uc021wlc.1_Silent_p.I741I|CLTCL1_uc021wlf.1_Silent_p.I741I|CLTCL1_uc011agw.1_Silent_p.I741I	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	741	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCACCTCCTTGATCTGCCCTG	0.522000			T	?	ALCL									54			11		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692607	20692607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:20692607C>T	uc010tlc.2	+	0	739	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P247H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTTGTATTCCCTCTGGTGC	0.473000														25			5		0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48473491	48473491	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr18:48473491C>T	uc002ley.3	+	15	1951	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	ME2_uc010dpd.3_3'UTR	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	564					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	AATATGATTCCCTGCTGCCAG	0.433000														64			25		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24823810	24823810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:24823810C>T	uc001upd.2	+	4	2427	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Missense_Mutation_p.R617C|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GAAGGAAGACCGTGTGGACGA	0.622000														120			12		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:37027156C>G	uc004ddl.2	+	0	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	225										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						TCTCCGCCCACAGCCTCCCAA	0.647000														46			4		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986959	61986959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:61986959C>T	uc001vid.4	-	1	1637	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PCDH20_uc010thj.2_Missense_Mutation_p.E425K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	398	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A425A(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGACAATTTCAGGGGGTCTG	0.448000														66			13		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75865438	75865438	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:75865438C>G	uc021zbv.1	-	14	3418	c.3383G>C	c.(3382-3384)aGa>aCa	p.R1128T	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1128T|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1128	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCCAGTCTTCTGTCATCCCC	0.468000														64			3		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563208	140563208	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140563208G>A	uc003liv.3	+	0	2229	c.1074G>A	c.(1072-1074)gaG>gaA	p.E358E		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	358	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P357A(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCCAGAGAACTCGCCTG	0.522000														91			8		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886617	228886617	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:228886617G>A	uc002vpq.2	-	5	554	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SPHKAP_uc002vpp.2_Silent_p.N169N|SPHKAP_uc010zlx.1_Silent_p.N169N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	169						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATGATGCAGTTGGTACTGT	0.443000														31			7		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090456	114090456	+	Silent	SNP	C	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:114090456C>G	uc011lwp.2	-	0	258	c.258G>C	c.(256-258)ctG>ctC	p.L86L		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TCTGGGATGACAGCAAGTTCA	0.468000														28			3		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7861237	7861237	+	Silent	SNP	T	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:7861237T>C	uc001aop.3	+	6	1082	c.858T>C	c.(856-858)ctT>ctC	p.L286L	PER3_uc009vmg.1_Silent_p.L286L|PER3_uc009vmh.1_Silent_p.L286L|PER3_uc001aoo.3_Silent_p.L285L|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.L285L	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	285	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTTTTTCTTGAAGTAGATG	0.328000														56			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794689	140794689	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140794689C>T	uc003lkl.2	+	0	1947	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	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_Silent_p.A649A|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.	647	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)			TCGTAGTGGCCGTCCAGGACC	0.711000														119			12		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514743	161514743	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:161514743G>A	uc001gar.3	-	3	617	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	FCGR3A_uc001gas.3_Silent_p.L144L|FCGR3A_uc001gat.4_Silent_p.L109L|FCGR3A_uc009wuh.3_Silent_p.L108L|FCGR3A_uc009wui.3_Silent_p.L109L	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	109	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAGCAACAGCCAGCCTGAA	0.562000														17			7		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62655924	62655924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:62655924C>T	uc002yho.3	+	13	1954	c.1786C>T	c.(1786-1788)Ctc>Ttc	p.L596F	PRPF6_uc002yhp.3_Missense_Mutation_p.L596F	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	596					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCTGGAAGCACTCCTGCAGAG	0.622000														64			16		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735191	54735191	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:54735191G>A	uc003pck.3	+	1	263	c.147G>A	c.(145-147)caG>caA	p.Q49Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	49								p.Q49L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTTGTCCAGGAACGAGTTT	0.388000														43			4		0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:13711709G>T	uc003nbb.3	-	0	88	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000														20			3		0.115264	0.115707	1	1	0
CD177	57126	broad.mit.edu	37	19	43859822	43859822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:43859822C>T	uc002owi.3	+	3	431	c.389C>T	c.(388-390)tCc>tTc	p.S130F	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	130					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		p.M129I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GACCCAGGATCCTTGAGGTGC	0.547000														89			10		0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27215604	27215604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:27215604G>A	uc001bnd.1	-	1	706	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	142							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCCACGAGGTGGACGGCAGTC	0.557000														47			6		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88391952	88391952	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:88391952T>A	uc001tam.1	-	3	317	c.149A>T	c.(148-150)aAa>aTa	p.K50I	C12orf50_uc001tan.3_Missense_Mutation_p.K104I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	50										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGAATTTCTTTCTGTAGTGT	0.373000														20			5		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408369	2408369	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:2408369G>A	uc010xgx.2	+	6	756	c.756G>A	c.(754-756)acG>acA	p.T252T	TMPRSS9_uc002lvv.1_Silent_p.T286T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	252	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		AAGACCCGACGAAGTGGGTGG	0.657000														53			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181765	140181765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140181765C>T	uc003lhf.2	+	0	983	c.983C>T	c.(982-984)cCc>cTc	p.P328L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P328L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	343	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGAAATCCCCCAATGTCA	0.373000														88			4		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161220127	161220127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:161220127C>T	uc011bpb.2	+	2	487	c.487C>T	c.(487-489)Cca>Tca	p.P163S		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	163	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAAGGAGTTCCAGGATACCC	0.423000														33			3		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678630	87678630	+	Silent	SNP	C	T	T	rs140186033	by1000genomes	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:87678630C>T	uc002fkd.3	+	1	1403	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	383	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGGCTGAGATCGCGGCTTCCA	0.672000														31			3		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253763	44253763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:44253763G>A	uc003oxi.2	-	2	940	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	262										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAGGTGAAGAGGAAGAGATTC	0.592000														126			11		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419923	180419923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:180419923C>T	uc003mmr.3	+	1	344	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	54					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TATGGAAGTGCGGTTCTTCAG	0.552000														80			4		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516182	140516182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140516182C>T	uc003liq.3	+	0	1383	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	389	Cadherin 4.				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)			AATGATCTCCCCTTTCTTTTG	0.473000														45			3		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483608	19483608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:19483608C>T	uc003jgd.3	-	11	2218	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.D562N|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	562	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D562Y(3)		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)					TAATACACATCCTGAACAGTT	0.468000														60			7		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536101	31536101	+	Silent	SNP	G	A	A	rs148262601		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:31536101G>A	uc003aka.3	-	0	369	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	80					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CGTAGGCTGCGGTGAGCTCCG	0.632000														80			12		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159899999	159899999	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:159899999G>A	uc001fur.2	-	14	2242	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	IGSF9_uc001fuq.2_Silent_p.L666L|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	682	Fibronectin type-III 2.					cell junction|integral to membrane|synapse		p.A682A(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGGCACCAGCAGCTCTGTT	0.597000														135			22		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24135199	24135199	+	Missense_Mutation	SNP	C	T	T	rs139055681	byFrequency	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:24135199C>T	uc002dmd.3	+	8	1159	c.962C>T	c.(961-963)aCg>aTg	p.T321M	PRKCB_uc002dme.3_Missense_Mutation_p.T321M	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	321					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGAAAAGACGACCAACACT	0.483000														61			13		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17846834	17846834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:17846834G>A	uc002rco.3	-	27	3504	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S	SMC6_uc010exo.3_Missense_Mutation_p.P1070S|SMC6_uc002rcn.3_Missense_Mutation_p.P1070S	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	1070					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCTTTCAGGATCAGACATT	0.368000														54			3		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046756	175046756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:175046756G>A	uc001gkl.1	+	1	315	c.202G>A	c.(202-204)Gat>Aat	p.D68N	TNN_uc010pmx.1_Missense_Mutation_p.D68N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	68					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)		CCTCAGTGACGATGGGGCTTC	0.577000														46			19		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178665	96178665	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:96178665G>A	uc001yfc.4	-	1	319	c.189C>T	c.(187-189)acC>acT	p.T63T	TCL1A_uc001yfb.4_Silent_p.T63T	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	63					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTGGGTGGGGGTCATAGGCC	0.547000			T	TRA@	T-CLL									102			18		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347927	65347927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:65347927C>T	uc001oeo.4	+	5	876	c.611C>T	c.(610-612)gCc>gTc	p.A204V		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	204										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCCCCGGAGGCCCGGGCTCGA	0.627000														78			5		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86964337	86964337	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:86964337C>T	uc001dlt.3	+	12	2456	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	732					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCAGAACATCCTCGGGAGGCT	0.448000														113			9		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217065	16217066	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:16217065_16217066GG>AA	uc003car.4	+	0	882_883	c.407_408GG>AA	c.(406-408)ggg>gAA	p.G136E	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	136						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AGGGACTGGGGGGCTGATGAGG	0.639000														29			8		0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548017	22548017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:22548017G>A	uc003xcm.1	-	1	1491	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L	EGR3_uc011kzn.1_Missense_Mutation_p.S340L|EGR3_uc011kzo.2_Missense_Mutation_p.S324L	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	378					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGGGGCCAGCGACACGGGGGG	0.672000														47			4		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850559	49850559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:49850559C>T	uc003cxr.3	-	3	574	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	135	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGTGCCCACCTTCAGCTGC	0.582000														54			16		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790279	248790279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:248790279G>A	uc001ier.1	-	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGAGGCGAGAGTCCACC	0.498000														87			23		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492394	149492394	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:149492394C>T	uc010lpk.3	+	41	6274	c.6274C>T	c.(6274-6276)Ctg>Ttg	p.L2092L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2095	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGCCCTCCTGGGGGCTCC	0.677000														70			7		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														18			3		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98382600	98382600	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:98382600A>T	uc002syh.4	-	34	4929	c.4700T>A	c.(4699-4701)gTt>gAt	p.V1567D		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1567						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTGAACTGGAACGGAATCCCA	0.507000														56			10		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000														26			3		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66774131	66774131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:66774131G>A	uc010bhq.3	+	5	1082	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MAP2K1_uc010ujp.2_Missense_Mutation_p.E181K	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	203	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E203K(6)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTCCCGTGGGGAGATCAAGCT	0.522000														88			26		0	0	1	0	0
CCL11	6356	broad.mit.edu	37	17	32614164	32614164	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:32614164C>T	uc002hia.1	+	1	267	c.126C>T	c.(124-126)ccC>ccT	p.P42P		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	42					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGAAGATACCCCTTCAGCGAC	0.433000														58			4		0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27008142	27008142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:27008142C>T	uc003acy.1	-	2	263	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	65	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.E65K(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TTTTCCAGTTCGAAGACCACC	0.537000														79			20		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85660250	85660251	+	Missense_Mutation	DNP	CC	TT	TT	rs140312391		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:85660250_85660251CC>TT	uc003hpd.3	-	39	6894_6895	c.6486_6487GG>AA	c.(6484-6489)ctggaa>ctAAaa	p.E2163K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2163						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTTCTGCTTCCAGTCCAAATC	0.401000														45			10		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128995	99128995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:99128995C>T	uc003uqv.3	+	6	1767	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.P548L|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.P548L|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.P475L|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.P284L	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	548					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAGAGAGACCACATAAATGT	0.418000														61			7		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64138925	64138925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:64138925C>T	uc004dvu.3	-	3	714	c.558G>A	c.(556-558)atG>atA	p.M186I	ZC4H2_uc004dvv.3_Missense_Mutation_p.M163I|ZC4H2_uc022byd.1_Missense_Mutation_p.M163I|ZC4H2_uc022byc.1_Missense_Mutation_p.M163I|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Missense_Mutation_p.M163I|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	186							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACTTACCTTCATAGGTGGGG	0.577000														34			13		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76739017	76739017	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:76739017C>T	uc001jwn.1	+	9	2644	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	KAT6B_uc001jwm.1_Silent_p.G425G|KAT6B_uc001jwo.1_Silent_p.G425G|KAT6B_uc001jwp.1_Silent_p.G534G	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	717	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AAGACTGTGGCCGGTACCCTT	0.383000														36			7		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793307	17793307	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:17793307G>A	uc009yhc.1	+	1	721	c.666G>A	c.(664-666)acG>acA	p.T222T	KCNC1_uc001mnk.4_Silent_p.T222T	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	222						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAACAAGACGGAGATCGAGA	0.582000														67			6		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009253	120009253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:120009253G>A	uc011muc.2	-	0	527	c.272C>T	c.(271-273)aCg>aTg	p.T91M		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	91								p.T91M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctcttcctccGTCGCGGGCCC	0.706000														12			4		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88033712	88033712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:88033712G>A	uc001pck.4	-	4	844	c.743C>T	c.(742-744)cCt>cTt	p.P248L	CTSC_uc001pcl.4_Missense_Mutation_p.P100L	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	248					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTTCGAACAGGACTGACAAA	0.383000														37			3		0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48700666	48700666	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:48700666C>T	uc002xva.3	-	3	342	c.297_splice	c.e3+1	p.V99_splice	TMEM189-UBE2V1_uc002xvf.3_Splice_Site_p.V322_splice|TMEM189-UBE2V1_uc002xvb.3_Splice_Site|TMEM189-UBE2V1_uc002xvc.3_Splice_Site_p.V55_splice|TMEM189-UBE2V1_uc002xvd.3_Splice_Site_p.V122_splice|TMEM189-UBE2V1_uc002xve.3_Splice_Site_p.V122_splice	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AACAACTTACCACTCCATTAG	0.388000														39			7		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973694	10973694	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:10973694G>A	uc003jfa.1	-	21	3694	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	CTNND2_uc010itt.2_Silent_p.S1092S|CTNND2_uc011cmy.1_Silent_p.S846S|CTNND2_uc011cmz.1_Silent_p.S750S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.S775S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1183					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S1183S(2)		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						TGGTGTACTCGCTGGCGGGAG	0.522000														105			23		0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126553	140126553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:140126553G>A	uc022bqf.1	+	2	336	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Missense_Mutation_p.E39K|SLC34A3_uc004cmf.1_Missense_Mutation_p.E39K	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	39					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGTCTTGGAGGAAGGGGACAC	0.627000														240			26		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	112319	112319	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrGL000209.1:112319G>A	uc002qtt.2	+	6	881	c.852G>A	c.(850-852)ggG>ggA	p.G284G	KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Silent_p.G284G|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Silent_p.G284G|KIR2DL2_uc002qum.3_5'Flank	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	283					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GGCCTGCGGGGAACAGAACAG	0.522000														50			9		0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71303799	71303799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:71303799C>T	uc002shr.3	+	6	2556	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	NAGK_uc002shp.4_Missense_Mutation_p.H291Y|NAGK_uc002shq.4_Missense_Mutation_p.H96Y			Q9UJ70	NAGK_HUMAN	Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA.	245					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTGGGCAGACACATCGTAGC	0.592000														81			8		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26714069	26714069	+	Missense_Mutation	SNP	C	T	T	rs139478059		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:26714069C>T	uc001mra.2	-	8	1433	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.D374N	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	374					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTCAGCTTGTCGGAGAGATGA	0.438000														52			4		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815203	82815203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:82815203G>A	uc003kii.3	+	6	1434	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A360T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	360	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTATCCTCGCAGAAACTGC	0.368000														100			7		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530763	140530763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140530763G>A	uc003lir.3	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	309	Cadherin 3.				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)			GGATTTTGAGGAAATTCAGTC	0.463000														63			5		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908196	103908196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:103908196G>A	uc001phr.2	+	0	889	c.646G>A	c.(646-648)Gag>Aag	p.E216K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	216					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAAAATAGAAGAGGAAATCCG	0.488000														87			9		0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196098779	196098779	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:196098779G>A	uc003fwm.4	-	5	678	c.603C>T	c.(601-603)ttC>ttT	p.F201F	UBXN7_uc003fwn.4_Silent_p.F53F|UBXN7_uc010iae.3_Silent_p.F39F	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	201							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCCAGAAAATGAAATGTTCCC	0.383000														118			16		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142172041	142172041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:142172041C>T	uc003eux.4	-	45	7812	c.7690G>A	c.(7690-7692)Gaa>Aaa	p.E2564K	ATR_uc003euy.1_Missense_Mutation_p.E450K	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2564	PI3K/PI4K.				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						TTACTCCATTCCACAAGAGGA	0.363000								Other conserved DNA damage response genes						56			7		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193153	132193153	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:132193153G>A	uc003vra.4	-	1	529	c.300C>T	c.(298-300)atC>atT	p.I100I	PLXNA4_uc003vrc.2_Silent_p.I100I|PLXNA4_uc003vrb.3_Silent_p.I100I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	100	Sema.					integral to membrane|intracellular|plasma membrane		p.R99C(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGTCTGGACGATGCGGGGTG	0.557000														73			17		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31593226	31593226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:31593226C>T	uc002rnv.1	-	17	2054	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	659					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)	CTTACCTTATCCTTCGCAAAG	0.348000														37			6		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637889	70637889	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:70637889C>T	uc003pfc.1	+	4	472	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	COL19A1_uc010kam.2_Silent_p.L15L	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	119	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACGGTGGTTTCTGTGGCAGGT	0.423000														26			3		0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324457	3324457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:3324457C>T	uc010vrd.2	+	0	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CTCTCCTGCTCCAGCACCCAA	0.552000														66			15		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4349486	4349486	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:4349486C>T	uc002fxt.3	+	3	590	c.546C>T	c.(544-546)ccC>ccT	p.P182P	SPNS3_uc002fxu.3_Silent_p.P55P	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	182					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCTTTATCCCCGTTGGAAGGT	0.607000														144			6		0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176365	160176365	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:160176365T>C	uc003qsl.3	+	7	1135	c.913T>C	c.(913-915)Tct>Cct	p.S305P	WTAP_uc003qso.3_Missense_Mutation_p.S186P	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	305					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TGACTTTCCTTCTTCTCCAGG	0.512000														57			8		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93691	93691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:93691G>A	uc001ifi.2	-	3	641	c.641C>T	c.(640-642)aCc>aTc	p.T214I		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	214					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CAGTTTTAGGGTCTTGGAACA	0.537000														65			17		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174715	34174715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:34174715C>T	uc001bxm.1	-	21	3727	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1144K|CSMD2_uc001bxo.1_Missense_Mutation_p.E57K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1144	CUB 7.					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)				TCGGAGAGTTCGAATGCCCTG	0.438000														104			15		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236633	204236633	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:204236633G>A	uc001hau.3	-	4	567	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	84	PH.							p.V83I(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CGATCCACCAGGACGAACCAG	0.582000														128			25		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483090	32483090	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:32483090C>T	uc002hhu.3	-	0	736	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	154					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCAGGAACTCCAGCATGCTGA	0.577000														133			31		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539985	133539985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:133539985G>A	uc002ttp.3	-	13	4773	c.4399C>T	c.(4399-4401)Ccc>Tcc	p.P1467S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1467							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						GGTGAGAGGGGGGCTTCTGAA	0.488000														15			7		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92002452	92002452	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:92002452G>A	uc004aqo.1	-	13	1751	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SEMA4D_uc011ltm.1_Silent_p.F393F|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.F393F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	393	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGTCTTTAACGAACTGCAGCG	0.527000														75			11		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210819	166210819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:166210819G>A	uc002udc.3	+	16	3327	c.3037G>A	c.(3037-3039)Gga>Aga	p.G1013R	SCN2A_uc002udd.3_Missense_Mutation_p.G1013R|SCN2A_uc002ude.3_Missense_Mutation_p.G1013R	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1013					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GATGCAGAAAGGAATCGATTT	0.368000														56			8		0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59485578	59485578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:59485578C>T	uc010wox.2	+	6	2131	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.P463L	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	617					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	p.P617Q(2)		endometrium(1)|lung(7)|ovary(1)	9						AGTGCCCGGCCCCGACTGCGT	0.721000														73			13		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081330	95081330	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:95081330G>A	uc001ydp.3	+	1	711	c.552G>A	c.(550-552)gtG>gtA	p.V184V	SERPINA3_uc001ydo.4_Silent_p.V209V|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.V184V|SERPINA3_uc001yds.3_Silent_p.V184V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	184					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACGACTACGTGAAGAATGGAA	0.488000														94			12		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131231325	131231325	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:131231325C>G	uc004ewn.3	-	3	431	c.253G>C	c.(253-255)Gac>Cac	p.D85H	FRMD7_uc011muy.2_Missense_Mutation_p.D70H	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	85	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)					TGTCCAGGGTCCACTGGGAAA	0.358000														98			39		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88768507	88768507	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:88768507C>T	uc003pmn.3	+	3	558	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	147						integral to membrane		p.R146C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		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;0.11)		TAAATCGTTTCAAATATATGT	0.333000														23			5		0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158383129	158383129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:158383129G>A	uc003fce.3	+	11	1491	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	GFM1_uc003fcd.3_Missense_Mutation_p.D462N|GFM1_uc003fcg.3_Missense_Mutation_p.D393N	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	462					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTAAAGAACGATCTGGAAAA	0.313000														14			4		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843463	24843463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:24843463G>A	uc003neo.1	-	13	1723	c.1547C>T	c.(1546-1548)tCt>tTt	p.S516F	FAM65B_uc011djs.1_Missense_Mutation_p.S495F|FAM65B_uc011dju.2_Missense_Mutation_p.S500F|FAM65B_uc003nep.3_Missense_Mutation_p.S466F|FAM65B_uc011djt.2_Missense_Mutation_p.S466F	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	516					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GCAAGCCTCAGATGGGGCCGA	0.577000														37			7		0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19450564	19450565	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:19450564_19450565GG>AA	uc003zny.1	+	5	916_917	c.758_759GG>AA	c.(757-759)tgg>tAA	p.W253*	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Nonsense_Mutation_p.W204*	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	253					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						AATGAGAAATGGGCCTTCATTG	0.510000														76			10		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180558	142180558	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:142180558C>A	uc011krz.2	-	1	350	c.301G>T	c.(301-303)Gct>Tct	p.A101S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.A101S|BV13S6J2.1_uc022anl.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGAGGGAGCAGCCGACAGC	0.557000														366			65		6.01781e-45	6.20809e-45	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65342720	65342720	+	Missense_Mutation	SNP	G	A	A	rs139105394		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:65342720G>A	uc003dmn.3	-	22	4248	c.3722C>T	c.(3721-3723)tCa>tTa	p.S1241L	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1270					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGACTCCAATGACGGATGCTG	0.617000														145			29		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113446901	113446901	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:113446901C>T	uc001tuj.3	+	9	2045	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	OAS2_uc001tui.1_Silent_p.I635I	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	635	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCCTGTGATCTTGGACCCAG	0.493000														158			27		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724403	49724403	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:49724403A>G	uc009zlh.3	+	12	1942	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	TROAP_uc001rtx.4_Missense_Mutation_p.Y592C	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	592	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTACTGTAGGATT	0.617000														83			3		0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171906377	171906377	+	Silent	SNP	G	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:171906377G>T	uc002ugo.2	-	10	1462	c.990C>A	c.(988-990)ggC>ggA	p.G330G	TLK1_uc002ugn.2_Silent_p.G309G|TLK1_uc002ugp.2_Silent_p.G261G|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Silent_p.G213G|TLK1_uc002ugr.1_Silent_p.G92G	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	309					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TAAATGAAGCGCCATGTCTAA	0.368000														49			3		1	1	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20443887	20443887	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:20443887C>T	uc010tkx.2	+	0	210	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCATCATCCTCACTGTGA	0.443000														34			5		0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482173	100482173	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:100482173G>A	uc003uwy.2	+	7	1209	c.942_splice	c.e7+1	p.Q314_splice	SRRT_uc010lhl.1_Splice_Site_p.Q314_splice|SRRT_uc003uxa.2_Splice_Site_p.Q314_splice|SRRT_uc003uwz.2_Splice_Site_p.Q314_splice	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	314	Glu-rich.				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						ACGGCAAGCAGGTCCGAGCCC	0.617000														38			4		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72730583	72730583	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:72730583G>A	uc003txy.1	-	5	1056	c.855C>T	c.(853-855)ctC>ctT	p.L285L	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.L285L|TRIM50_uc003txz.1_Silent_p.L284L	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	285	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTTTCCGGAAGAGCCTTTTCC	0.592000														60			12		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328854	28328854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:28328854G>A	uc002dpd.3	+	1	931	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	48						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GGCCGCCAGCGACGTCACCAA	0.637000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			30		0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28651902	28651902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:28651902C>T	uc002hfa.1	-	3	645	c.572G>A	c.(571-573)gGa>gAa	p.G191E	TMIGD1_uc010csh.1_Missense_Mutation_p.G191E	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	191	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						ACTGTAGGTTCCGTTGTCAGG	0.423000														86			9		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109788	231109788	+	Silent	SNP	T	G	G			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:231109788T>G	uc002vql.3	+	5	772	c.657T>G	c.(655-657)ggT>ggG	p.G219G	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.G219G|SP140_uc002vqn.3_Splice_Site_p.V219_splice|SP140_uc002vqm.3_Silent_p.G219G|SP140_uc010fxl.3_Silent_p.G219G	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	219				Missing (in Ref. 2; AAC50817).	defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACTACCAGGTGGGGGAGGTA	0.453000														18			4		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402269	248402269	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:248402269C>T	uc010pzh.2	+	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCTTCATCCTGCTGGGAA	0.428000														78			11		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239251	48239251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:48239251G>A	uc010rhs.2	+	0	890	c.890G>A	c.(889-891)aGa>aAa	p.R297K		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATCGCCATAAGAAGATTGTGG	0.418000														36			5		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861262	10861262	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:10861262G>A	uc003bvz.3	+	1	403	c.369G>A	c.(367-369)agG>agA	p.R123R	SLC6A11_uc003bvy.1_Silent_p.R123R	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	123					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CGTGTTGGAGGAAAGTTTGCC	0.398000														77			12		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890687	229890687	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:229890687G>A	uc002vpr.4	-	2	452	c.414C>T	c.(412-414)atC>atT	p.I138I	PID1_uc002vps.4_Silent_p.I136I|PID1_uc002vpt.4_Silent_p.I105I|PID1_uc002vpu.4_Silent_p.I56I	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	138	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGAATGGCCGGATTTCCAGGA	0.567000														63			5		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488216	14488216	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:14488216C>T	uc003jff.3	+	47	7485	c.7479C>T	c.(7477-7479)ccC>ccT	p.P2493P	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Silent_p.P2142P	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2493					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCGCCTCCCCCGCCAGCCGAC	0.716000														33			6		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44847370	44847370	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:44847370G>A	uc003cnx.4	+	15	2012	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	KIF15_uc010hiq.3_Silent_p.Q524Q|KIF15_uc003cny.1_Silent_p.Q256Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	621					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CAGAGCTTCAGTCTTTGCAAA	0.343000														80			8		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845351	101845351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:101845351C>T	uc003uys.4	+	17	2934	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	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.P925L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	925					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						CCCACCAAGCCCTCGGTCCCC	0.642000														195			33		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109539872	109539872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:109539872C>T	uc010fjn.3	-	5	941	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	EDAR_uc010yws.2_Missense_Mutation_p.G132S|EDAR_uc002teq.4_Missense_Mutation_p.G132S	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	132					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAGACCATGCCATAGATGTTC	0.547000														205			18		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881430	33881430	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:33881430T>C	uc003jia.1	-	1	446	c.283A>G	c.(283-285)Att>Gtt	p.I95V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.I95V|ADAMTS12_uc003jib.1_Missense_Mutation_p.I95V	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	95					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCGTGAGAAATTCTGTAGTAC	0.458000										HNSCC(64;0.19)				108			30		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	C	C	rs121913377		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:140453134T>C	uc003vwc.4	-	14	1862	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					40			8		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37272719	37272719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:37272719G>A	uc022abv.1	-	7	1240	c.530C>T	c.(529-531)tCg>tTg	p.S177L	ELMO1_uc011kbc.2_Missense_Mutation_p.S81L|ELMO1_uc003tfk.2_Missense_Mutation_p.S177L|ELMO1_uc010kxg.2_Missense_Mutation_p.S177L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	177					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAACGCCACCGAAAATGTATC	0.463000														52			3		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178551987	178551987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:178551987C>T	uc003mjw.3	-	18	3047	c.2945G>A	c.(2944-2946)gGg>gAg	p.G982E		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	982	TSP type-1 4.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGACCAGGGCCCGGCTCGCCA	0.692000														68			8		0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752814	43752814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:43752814C>T	uc002xnf.1	-	1	190	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	Homo sapiens WAP four-disulfide core domain 12 (WFDC12), mRNA.	58	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity	p.E58fs*14(2)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CACTTCCTTTCCCCCAGACAG	0.547000														78			14		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953813	165953813	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:165953813C>T	uc002ucx.3	-	22	4680	c.4188G>A	c.(4186-4188)gtG>gtA	p.V1396V	SCN3A_uc002ucy.3_Silent_p.V1347V|SCN3A_uc002ucz.3_Silent_p.V1347V|SCN3A_uc002uda.1_Silent_p.V1216V|SCN3A_uc002udb.1_Silent_p.V1216V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1396						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.N1395fs*2(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTTTACTTTCACGTTTTTCC	0.403000														27			10		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243696	56243696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:56243696C>T	uc002qly.3	-	1	1529	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	501						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACGATTTCTTCTGTTGAAATT	0.453000														74			20		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52963652	52963652	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:52963652C>T	uc001sap.1	-	5	1173	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	375	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCTGCTTCTTCACATTCCCGA	0.582000														112			7		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	322179	322179	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:322179G>A	uc004cpg.3	-	1	735	c.471C>T	c.(469-471)caC>caT	p.H157H	PPP2R3B_uc011mha.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	157					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				TGGCCCTCTCGTGGGGGAACC	0.637000														74			7		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127316631	127316631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:127316631G>A	uc004bor.1	-	2	539	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	NR6A1_uc004boq.1_Missense_Mutation_p.L117F|NR6A1_uc010mwq.1_Missense_Mutation_p.L117F	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	121					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCCATCTGGAGGCATTTGAGC	0.493000														131			27		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137870	56137870	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:56137870G>A	uc002xyn.4	+	3	688	c.525G>A	c.(523-525)cgG>cgA	p.R175R	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	175					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.T174M(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATGACGCGGATGGGCACGC	0.572000														111			15		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855365	+	Missense_Mutation	DNP	CA	TG	TG			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:53855364_53855365CA>TG	uc010ydv.1	+	3	1553_1554	c.1436_1437CA>TG	c.(1435-1437)aca>aTG	p.T479M	ZNF845_uc010ydw.1_Missense_Mutation_p.T479M	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTTG	0.381000														67			3		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108572633	108572633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:108572633C>T	uc003dxi.1	+	5	614	c.470C>T	c.(469-471)tCc>tTc	p.S157F	TRAT1_uc010hpx.1_Missense_Mutation_p.S120F	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	157					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	p.S157Y(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GACAGTTTCTCCCCAGAAAGC	0.443000														51			9		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632785	122632785	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:122632785G>A	uc003efz.1	-	14	2356	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	SEMA5B_uc011bju.1_Silent_p.F626F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.F684F|SEMA5B_uc010hro.1_Silent_p.F626F|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	684	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCGGACCTGGAAGCCGATGC	0.687000														126			29		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112676998	112676998	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:112676998G>A	uc021reb.1	-	33	5142	c.4746C>T	c.(4744-4746)ctC>ctT	p.L1582L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTCGATCCATGAGCTGCACAA	0.532000														165			32		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240519181	240519181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:240519181G>A	uc010pye.2	+	14	5068	c.4843G>A	c.(4843-4845)Gaa>Aaa	p.E1615K	FMN2_uc010pyd.2_Missense_Mutation_p.E1611K|FMN2_uc010pyf.1_Intron|FMN2_uc010pyg.2_Missense_Mutation_p.E207K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1611	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCTTTCAAGGAAAACATGGA	0.318000														28			6		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337305	22337305	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:22337305C>T	uc021rpg.1	+	1	159	c.96C>T	c.(94-96)gtC>gtT	p.V32V	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		CCCTGAGTGTCCAGGAGGGAG	0.438000														50			8		0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287763	79287763	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:79287763C>T	uc002kad.2	-	2	628	c.78G>A	c.(76-78)gtG>gtA	p.V26V		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	26						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GCTGCCCGATCACATTTCCTG	0.602000														95			24		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23112815	23112815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:23112815C>T	uc003xdc.2	+	3	1175	c.527C>T	c.(526-528)cCc>cTc	p.P176L	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.P66L|CHMP7_uc003xde.2_Missense_Mutation_p.P34L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	176					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCCTCCCACCCCGTGGTGGCC	0.582000														74			10		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109463245	109463246	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:109463245_109463246GG>AA	uc002ten.1	+	11	1435_1436	c.1375_1376GG>AA	c.(1375-1377)gga>AAa	p.G459K	CCDC138_uc002teo.1_Missense_Mutation_p.G459K|CCDC138_uc002tep.1_Missense_Mutation_p.G143K|CCDC138_uc010fjm.1_Missense_Mutation_p.G143K	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	459										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CATTTTTAAAGGAGTGGTAACT	0.347000														43			6		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96922768	96922768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:96922768C>T	uc001yfn.2	+	10	1227	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	395	Adenylate kinase.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAAACTGCATCACATCCAACT	0.393000														74			9		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521583	125521583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:125521583C>T	uc001lhk.1	-	10	1907	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	528					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.D528N(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGCACCAGGTCGTAGGGGTAC	0.647000														153			36		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757314	71757314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:71757314C>T	uc003kce.1	-	1	196	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATCTTCATTTCCTTCTGCATC	0.423000														70			8		0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874713	26874714	+	Missense_Mutation	DNP	GG	AA	AA	rs150932837		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:26874713_26874714GG>AA	uc002hbk.2	-	3	662_663	c.591_592CC>TT	c.(589-594)ccccct>ccTTct	p.P198S	UNC119_uc002hbm.2_Missense_Mutation_p.P198S	NM_005148	NP_005139	Q13432	U119A_HUMAN	Homo sapiens unc-119 homolog (C. elegans) (UNC119), transcript variant 1, mRNA.	198					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TCGGAGAGAGGGGGGAAGTCGT	0.599000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			14		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093419	40093419	+	Nonsense_Mutation	SNP	G	A	A	rs147730816		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:40093419G>A	uc001zkj.1	-	2	2328	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	GPR176_uc010uck.1_Nonsense_Mutation_p.Q428*	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	488					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.Q488*(2)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		ACCTTTGTCTGGATCAGCTCT	0.517000														102			25		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112940491	112940491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:112940491G>A	uc002tho.1	+	5	1065	c.794G>A	c.(793-795)gGg>gAg	p.G265E	FBLN7_uc010fki.1_Missense_Mutation_p.G219E|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	265	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGCTGACGGGAAGAGCTGT	0.662000														134			4		0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769628	162769628	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:162769628C>T	uc001gci.3	+	4	638	c.543C>T	c.(541-543)ctC>ctT	p.L181L	HSD17B7_uc009wuv.3_Non-coding_Transcript	NM_016371	NP_057455	P56937	DHB7_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.	181					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	ATTTCAGCCTCGAGGACTTCC	0.502000														30			11		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1094812	1094812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:1094812C>T	uc001lsx.1	+	32	5915	c.5888C>T	c.(5887-5889)cCt>cTt	p.P1963L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2026						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)	AGGCCCTACCCTTCCTCTGTG	0.627000														278			24		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107925060	107925061	+	Missense_Mutation	DNP	CC	TT	TT	rs104886404		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:107925060_107925061CC>TT	uc022ccg.1	+	46	4360_4361	c.4158_4159CC>TT	c.(4156-4161)atccct>atTTct	p.P1387S	COL4A5_uc004enz.1_Missense_Mutation_p.P1381S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1381	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGCC	0.450000									Alport syndrome with Diffuse Leiomyomatosis					10			4		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62327290	62327290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:62327290C>T	uc001dab.3	+	18	2504	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	INADL_uc009waf.1_Missense_Mutation_p.S797L|INADL_uc001daa.2_Missense_Mutation_p.S797L|INADL_uc001dad.3_Missense_Mutation_p.S494L|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	797					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						ACTGAATTTTCAGGAACAATT	0.254000														58			9		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67389392	67389392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:67389392C>T	uc001xiy.3	+	6	1587	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	GPHN_uc001xiw.3_Nonsense_Mutation_p.Q138*|GPHN_uc001xix.3_Nonsense_Mutation_p.Q156*|GPHN_uc010tss.2_Nonsense_Mutation_p.Q169*|GPHN_uc010tst.2_Nonsense_Mutation_p.Q125*|GPHN_uc010tsu.2_Nonsense_Mutation_p.Q46*	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	156	Interaction with GABARAP (By similarity).|MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGAATGCTTTCAATTCATACT	0.368000			T	MLL	AL									76			9		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27948907	27948907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:27948907C>T	uc003zqv.1	-	6	2413	c.1763G>A	c.(1762-1764)gGt>gAt	p.G588D	LINGO2_uc010mjf.1_Missense_Mutation_p.G588D|LINGO2_uc003zqu.1_Missense_Mutation_p.G588D|LINGO2_uc022bfc.1_Missense_Mutation_p.G588D	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	588						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACAACAGCACCATTGTTTTT	0.453000														29			6		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212779	100212779	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:100212779C>T	uc003uvq.3	+	5	883	c.681C>T	c.(679-681)ctC>ctT	p.L227L	MOSPD3_uc003uvr.3_Silent_p.L227L|MOSPD3_uc003uvs.3_Silent_p.L227L|MOSPD3_uc003uvt.3_Silent_p.L217L	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	227						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCAGGCCTCCTCACCATGG	0.632000														106			15		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155158006	155158006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:155158006C>T	uc002tyt.4	+	6	1164	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	GALNT13_uc002tyr.4_Missense_Mutation_p.P354S|GALNT13_uc010foc.1_Missense_Mutation_p.P173S|GALNT13_uc010fod.3_Missense_Mutation_p.P107S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	354						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATACACTTTTCCTGGTGGCAC	0.438000														116			14		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054720	29054720	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:29054720G>A	uc003nlx.3	-	0	371	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCAGGAAGATGATGAGGTGGG	0.468000														91			15		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835092	61835092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr20:61835092G>A	uc002yeh.3	-	3	494	c.200C>T	c.(199-201)cCt>cTt	p.P67L	YTHDF1_uc011aaq.2_Missense_Mutation_p.P17L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	67										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GAGGGAGTAAGGAAATCCAAT	0.512000														59			21		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624933	23624933	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:23624933C>T	uc003swk.2	-	0	1214	c.564G>A	c.(562-564)cgG>cgA	p.R188R						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CCAGGCGACCCCGGTAAAAAT	0.512000														102			9		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588407	31588407	+	Silent	SNP	G	T	T	rs143539472	byFrequency	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:31588407G>T	uc002rnv.1	-	22	2539	c.2460C>A	c.(2458-2460)acC>acA	p.T820T		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	820					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.T820T(2)		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)	CAGGGCGGCCGGTCCTGGGGG	0.552000														158			28		7.63091e-17	7.84121e-17	1	1	0
KRT16	3868	broad.mit.edu	37	17	39768903	39768903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:39768903G>A	uc002hxg.4	-	0	177	c.38C>T	c.(37-39)tCc>tTc	p.S13F	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.S13F	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	13	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCCCTTCATGGAGCTGGAGGA	0.662000														26			3		0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33744557	33744557	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr18:33744557G>C	uc010xcg.2	+	18	2136	c.2076G>C	c.(2074-2076)aaG>aaC	p.K692N	ELP2_uc002kzk.2_Missense_Mutation_p.K627N|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Missense_Mutation_p.K601N|ELP2_uc010xch.2_Missense_Mutation_p.K622N|ELP2_uc002kzn.2_Missense_Mutation_p.K557N|ELP2_uc002kzo.2_Missense_Mutation_p.K557N	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	627					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTAATGAGAAGTTCTTACTAG	0.423000														54			5		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578672	57578672	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr12:57578672C>T	uc001snd.3	+	38	6703	c.6237C>T	c.(6235-6237)atC>atT	p.I2079I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2079					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGAACGGATCGACCTGGAGA	0.547000														59			7		0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951872	37951873	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:37951872_37951873CC>TT	uc003tfo.4	-	3	1025_1026	c.639_640GG>AA	c.(637-642)gaggtc>gaAAtc	p.V214I		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	214	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACCGTTGTGACCTCATTGCAGC	0.421000														44			5		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226818	149226818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:149226818C>T	uc002twm.4	+	8	2303	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	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.	436						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)		CTCCCTGTCCCCTTCTCCAGT	0.488000														21			3		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317975	154317975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:154317975C>T	uc001fex.3	+	22	2747	c.2747C>T	c.(2746-2748)aCc>aTc	p.T916I		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	902					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCTTTCACCATGGTCCAC	0.488000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		248			26		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877902	28877902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:28877902C>T	uc002dri.3	+	3	926	c.487C>T	c.(487-489)Cga>Tga	p.R163*	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Nonsense_Mutation_p.R163*|SH2B1_uc002drk.3_Nonsense_Mutation_p.R163*|SH2B1_uc002drl.3_Nonsense_Mutation_p.R163*|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Nonsense_Mutation_p.R163*|SH2B1_uc002drm.3_Nonsense_Mutation_p.R163*	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	163	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCGCTCTGTCCGAGGCTCAGT	0.657000														96			16		0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43296766	43296766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:43296766C>T	uc001cic.1	+	3	683	c.413C>T	c.(412-414)aCc>aTc	p.T138I	ERMAP_uc010ojw.1_Missense_Mutation_p.T199I|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.T138I|ERMAP_uc001cif.1_Missense_Mutation_p.T48I	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	138	Ig-like V-type.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAAGAGGACACCGTGATCCTG	0.498000														31			6		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912857	159912857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:159912857C>T	uc001fur.2	-	2	341	c.143G>A	c.(142-144)gGc>gAc	p.G48D	IGSF9_uc001fuq.2_Missense_Mutation_p.G48D	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	48	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ggggggccggccggccggggg	0.642000														56			18		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5048750	5048751	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:5048750_5048751CC>TT	uc002gau.1	+	26	4273_4274	c.2043_2044CC>TT	c.(2041-2046)ttccat>ttTTat	p.H682Y	USP6_uc002gav.1_Missense_Mutation_p.H682Y|USP6_uc010ckz.1_Missense_Mutation_p.H365Y	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	682					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGATTTGTTCCATGGGCAGCT	0.386000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									48			10		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863404	23863404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:23863404G>A	uc001wjv.3	-	20	2629	c.2558C>T	c.(2557-2559)aCc>aTc	p.T853I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	853					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCCTTCATGGTGGCCATCTC	0.572000														104			25		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640501	57640501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:57640501C>T	uc002qny.3	+	3	814	c.458C>T	c.(457-459)tCa>tTa	p.S153L	USP29_uc021vci.1_Missense_Mutation_p.S153L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	153					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTCAAAATCACCAACACAT	0.363000														43			7		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362542	169362542	+	Missense_Mutation	SNP	G	A	A	rs34420455		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:169362542G>A	uc021xuh.1	-	8	1350	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	DDX60L_uc003irq.4_Missense_Mutation_p.P414S|DDX60L_uc003irr.1_Missense_Mutation_p.P414S|DDX60L_uc003irs.1_Missense_Mutation_p.P141S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	414							ATP binding|ATP-dependent helicase activity|RNA binding	p.F413L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCTCAGAGGAAAAGACTTT	0.373000														25			8		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222490	27222490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:27222490C>T	uc003nja.3	+	9	1184	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.P133L|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	390					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGTGAGAATCCCAGATGTCCT	0.522000														182			20		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:70585410G>A	uc003xyl.3	-	9	2948	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_uc010lzb.3_Silent_p.F692F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	747						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)			TAAACCCAACGAATTTGAGGC	0.488000														78			10		0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	726987	726988	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:726987_726988CC>TT	uc002fsa.3	-	2	576_577	c.496_497GG>AA	c.(496-498)gga>AAa	p.G166K	NXN_uc002fsb.1_Missense_Mutation_p.G53K|NXN_uc010vqd.2_5'Flank|NXN_uc010vqe.2_Missense_Mutation_p.G58K	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	166					Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGGTTTCGGTCCCCAGGGGAAC	0.545000														57			6		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059590	11059590	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:11059590G>A	uc010hdq.3	+	3	711	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	100					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCTTCCTGCTGGAGTGCTCCC	0.577000														160			27		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574447	28574447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:28574447G>A	uc003xgz.1	+	2	1464	c.871G>A	c.(871-873)Gtc>Atc	p.V291I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	291						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTCTATAACGTCAGTACTGG	0.522000														50			4		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237103	96237103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:96237103C>T	uc001vmk.3	-	21	3263	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	DZIP1_uc001vmj.3_Missense_Mutation_p.G280E|DZIP1_uc001vml.3_Missense_Mutation_p.G785E|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	804					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)			AGATTTTTTTCCCAAAGATAT	0.428000														34			4		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208028	106208028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:106208028C>T	uc001yse.3	-	4	819	c.373G>A	c.(373-375)Gac>Aac	p.D125N	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		ACGGCGATGTCGCTGGGATAG	0.612000														183			66		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31266588	31266588	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr22:31266588C>T	uc003aiy.1	+	2	1130	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	OSBP2_uc011ala.1_Silent_p.I177I|OSBP2_uc010gwc.1_Silent_p.I169I|OSBP2_uc003aix.1_Silent_p.I342I|OSBP2_uc011alb.1_Silent_p.I342I|OSBP2_uc003aiz.1_Silent_p.I342I|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.2_Silent_p.I84I	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	342					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCTCAAGATCCCATCTGAGA	0.577000														49			7		0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125498264	125498264	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:125498264C>A	uc003yrc.3	+	1	717	c.374C>A	c.(373-375)tCg>tAg	p.S125*		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	125					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAGGTCCCTCGCTGTGGATG	0.398000														65			3		0.014758	0.0149296	1	1	0
abParts	0	broad.mit.edu	37	14	106725652	106725652	+	RNA	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr14:106725652C>T	uc021ser.1	-	926		c.21961G>A								Parts of antibodies, mostly variable regions.																		GCCCAAACTCCATGGTGAGTT	0.458000														148			12		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488280	14488280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:14488280C>T	uc003jff.3	+	47	7549	c.7543C>T	c.(7543-7545)Cgc>Tgc	p.R2515C	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.R2164C	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2515					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAGACACCCCGCCACGCGGC	0.711000														31			7		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618619	134618619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:134618619G>A	uc003vrz.3	+	4	1565	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Missense_Mutation_p.A231T	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	367	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaaaagggcagcagaggagag	0.507000														20			3		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769724	247769724	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:247769724C>T	uc010pyz.2	+	0	837	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTTCTACACCATGGTGACCC	0.428000														42			4		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036993	153036993	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chrX:153036993G>A	uc010nuk.2	+	14	2740	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.A482A|PLXNB3_uc004fii.2_Silent_p.A800A|PLXNB3_uc011mzd.1_Silent_p.A439A|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	800					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAAGCGGCCAACAGGA	0.682000														31			8		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672385	45672385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr11:45672385G>A	uc021qgn.1	-	0	89	c.89C>T	c.(88-90)tCc>tTc	p.S30F	CHST1_uc001mys.2_Missense_Mutation_p.S30F	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	30					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)		GGTGTGAAAGGACTTGGCGGT	0.652000														132			13		0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134492024	134492024	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr6:134492024G>A	uc003qen.4	-	10	1157	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	SGK1_uc003qeo.4_Silent_p.S451S|SGK1_uc011ect.2_Silent_p.S346S|SGK1_uc011ecu.2_Silent_p.S312S|SGK1_uc011ecv.2_Silent_p.S370S|SGK1_uc011ecw.2_Silent_p.S384S	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	356	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGTTAATTAAGGAGAAGAAGA	0.393000														58			5		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158223	139158223	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr8:139158223G>A	uc003yuy.3	-	14	3690	c.3519C>T	c.(3517-3519)ttC>ttT	p.F1173F	FAM135B_uc003yux.3_Silent_p.F1074F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.F735F|FAM135B_uc003yvb.3_Missense_Mutation_p.P701S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1173										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACATTAGGAAGTCCAGTT	0.438000										HNSCC(54;0.14)				44			7		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008435	184008435	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:184008435C>T	uc003fni.4	+	14	2138	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	ECE2_uc011brh.1_Silent_p.F553F|ECE2_uc003fnl.4_Silent_p.F628F|ECE2_uc003fnm.4_Silent_p.F582F|ECE2_uc003fnk.4_Silent_p.F553F|ECE2_uc011bri.1_Silent_p.F615F|ECE2_uc010hxv.3_Silent_p.F344F	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	700	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCCCCCTTCTATGCCCGCA	0.622000														154			20		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117138988	117138988	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:117138988G>C	uc004biq.3	-	1	1234	c.1099C>G	c.(1099-1101)Cgg>Ggg	p.R367G	AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Missense_Mutation_p.R286G|AKNA_uc004bir.3_Missense_Mutation_p.R367G|AKNA_uc004bis.3_Missense_Mutation_p.R367G|AKNA_uc010mve.2_Missense_Mutation_p.R248G|AKNA_uc004biu.1_Missense_Mutation_p.R108G|AKNA_uc004biv.1_Missense_Mutation_p.R367G|AKNA_uc004biw.1_Missense_Mutation_p.R367G	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R367W(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AATCTCACCCGGGGCCCTACC	0.607000														36			4		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115904	26115904	+	Silent	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:26115904C>T	uc002gzu.3	-	3	513	c.249G>A	c.(247-249)cgG>cgA	p.R83R	NOS2_uc010crh.1_Silent_p.R83R|NOS2_uc010wab.1_Silent_p.R83R	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	83					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCCTCACATGCCGTGGGGAGG	0.527000														232			16		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391051	197391051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:197391051G>A	uc001gtz.3	+	5	2302	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	CRB1_uc010poz.2_Missense_Mutation_p.C629Y|CRB1_uc009wza.3_Missense_Mutation_p.C586Y|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.C698Y|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.C179Y|CRB1_uc001gub.1_Missense_Mutation_p.C347Y	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	698	EGF-like 12.				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						CAGTGTGACTGCCACAGGCCC	0.517000														47			4		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693124	75693124	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:75693124G>T	uc002bai.3	-	10	1943	c.1684C>A	c.(1684-1686)Cca>Aca	p.P562T	SIN3A_uc002baj.3_Missense_Mutation_p.P562T|SIN3A_uc010uml.2_Missense_Mutation_p.P562T	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	562	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.			P -> G (in Ref. 4; AAK95854).	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAACTCTTTGGTAAGGCTCGA	0.493000														30			3		0.004672	0.00474472	1	1	0
ZNF750	79755	broad.mit.edu	37	17	80789224	80789224	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:80789224G>A	uc002kga.3	-	1	1418	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	369						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTCTGTTGGGGTCCGAAGGGT	0.557000														191			18		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114203843	114203843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr4:114203843C>T	uc003ibe.4	+	17	1994	c.1894C>T	c.(1894-1896)Ccg>Tcg	p.P632S	ANK2_uc003ibd.4_Missense_Mutation_p.P611S|ANK2_uc003ibf.4_Missense_Mutation_p.P632S|ANK2_uc003ibc.2_Missense_Mutation_p.P608S|ANK2_uc011cgb.1_Missense_Mutation_p.P647S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	632					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTATACTCCGTTACATAT	0.348000														13			5		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103724	53103724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:53103724G>A	uc003tpz.3	+	0	376	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	120										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTTGCATGAAAGGGGGGC	0.706000														58			8		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807033	143807033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:143807033G>A	uc011ktz.2	+	0	358	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GATGTCCTATGATAGGTATGT	0.468000														51			6		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3282252	3282252	+	Silent	SNP	C	T	T	rs144542912		TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr19:3282252C>T	uc002lxm.3	+	6	916	c.879C>T	c.(877-879)atC>atT	p.I293I	CELF5_uc010dtj.2_Silent_p.I293I|CELF5_uc002lxl.2_Silent_p.I293I|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	293				I -> V (in Ref. 5; AAK07476).	mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCACACCCATCGCTCCTGCCT	0.672000														17			5		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090383	115090384	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr13:115090383_115090384CC>TT	uc001vuv.3	+	2	1398_1399	c.1066_1067CC>TT	c.(1066-1068)cct>TTt	p.P356F	CHAMP1_uc010tko.2_Missense_Mutation_p.P356F|CHAMP1_uc010ahb.3_Missense_Mutation_p.P356F|CHAMP1_uc021rmx.1_Missense_Mutation_p.P356F	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	356	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TTCTGTATCTCCTGGACCTTGG	0.500000														103			8		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489194	108489194	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:108489194G>A	uc010ywk.2	+	19	4816	c.4734G>A	c.(4732-4734)ttG>ttA	p.L1578L	RGPD4_uc002tdu.3_Silent_p.L765L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1578					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCATCTTTGAAAAGTAACA	0.353000														98			25		0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412721	20412721	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:20412721G>A	uc001bcx.3	+	8	1141	c.278_splice	c.e8+1	p.W93_splice	PLA2G5_uc001bcy.3_Splice_Site_p.W62_splice	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	62					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)		GCACCGATTGGTGAGCTGATC	0.517000														82			11		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97366109	97366109	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:97366109G>A	uc010fia.3	+	43	5052	c.5052G>A	c.(5050-5052)aaG>aaA	p.K1684K	FER1L5_uc002sws.4_Silent_p.K402K|FER1L5_uc010yus.2_Silent_p.K401K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1684						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GACCCAAGAAGGAACGCCTTG	0.587000														64			10		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206772928	206772928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:206772928G>A	uc001heh.2	-	9	1300	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	EIF2D_uc009xbw.2_Missense_Mutation_p.S240F	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	364					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATAGTCTGGGAGGTCGGGGA	0.507000														88			16		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42281705	42281705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:42281705C>T	uc021sjp.1	-	14	1631	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.G168E	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	532	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GATGAAGGCCCCATACTTCTG	0.612000											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			6		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746324	150746324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:150746324G>A	uc003wio.2	+	0	720	c.352G>A	c.(352-354)Gat>Aat	p.D118N	ASIC3_uc003win.2_Missense_Mutation_p.D118N|ASIC3_uc003wip.2_Missense_Mutation_p.D118N|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	118					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GCTGGGCCTGGATCCCGCAGA	0.687000														76			19		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129547017	129547017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr3:129547017C>T	uc021xdy.1	-	2	639	c.205G>A	c.(205-207)Gat>Aat	p.D69N	TMCC1_uc010htg.3_Intron	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	69						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGCTGCACATCATGTGGAGAC	0.502000														65			8		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128041115	128041115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr7:128041115G>A	uc011kol.1	-	2	309	c.203C>T	c.(202-204)tCc>tTc	p.S68F	IMPDH1_uc011kom.1_Missense_Mutation_p.S68F|IMPDH1_uc003vmt.2_Missense_Mutation_p.S68F|IMPDH1_uc003vmu.2_Missense_Mutation_p.S153F|IMPDH1_uc003vmx.2_Missense_Mutation_p.S76F|IMPDH1_uc003vmy.2_Missense_Mutation_p.S84F|IMPDH1_uc003vmw.2_Missense_Mutation_p.S143F|IMPDH1_uc011kon.1_Missense_Mutation_p.S120F|IMPDH1_uc003vmv.2_Missense_Mutation_p.S117F|DQ579129_uc022alb.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	68					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCCATGGGGGAGGAGATCAG	0.577000														90			15		0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43641177	43641177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr15:43641177C>T	uc010udo.2	+	9	1199	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F	ADAL_uc001zrh.3_Missense_Mutation_p.L236F|ADAL_uc001zri.2_Missense_Mutation_p.L121F	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	236					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGGAACATTTCTCAACTCCGG	0.473000														66			9		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21730787	21730787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr16:21730787G>A	uc002djh.3	+	15	1769	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.D511N|OTOA_uc002dji.3_Missense_Mutation_p.D266N|OTOA_uc010vbk.2_Missense_Mutation_p.D238N	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	604					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCATTTCCAGGATTTTCAGAA	0.498000														81			6		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103909754	103909754	+	Silent	SNP	T	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr10:103909754T>C	uc001kum.3	+	13	5002	c.4963T>C	c.(4963-4965)Ttg>Ctg	p.L1655L	PPRC1_uc001kun.3_Silent_p.L1533L|PPRC1_uc010qqj.2_Silent_p.L1391L|PPRC1_uc009xxa.3_Non-coding_Transcript|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGACACATTGTTGAAACAGGC	0.488000														79			20		0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226050548	226050548	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:226050548G>A	uc001hpm.2	-	10	1372	c.750C>T	c.(748-750)gaC>gaT	p.D250D		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	250						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGGGATACGCGTCCCTGTGGC	0.567000														68			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163201	113163201	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr9:113163201A>C	uc010mtz.3	-	39	10092	c.9755T>G	c.(9754-9756)gTg>gGg	p.V3252G	SVEP1_uc010mty.3_Missense_Mutation_p.V1178G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3252	Sushi 31.				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						ACTGCCAACCACAAATCCATG	0.403000														24			3		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186648534	186648534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr1:186648534C>T	uc001gsb.3	-	1	226	c.89G>A	c.(88-90)gGt>gAt	p.G30D	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.	30	EGF-like.				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)	CATACATACACCTCGGTTTTG	0.388000														47			8		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480755	140480755	+	Silent	SNP	G	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr5:140480755G>A	uc003lio.3	+	0	522	c.522G>A	c.(520-522)ccG>ccA	p.P174P	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	174	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATCACTCCGAATTCCCACT	0.507000														104			10		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	295	---	---	8	---					
DDX5	1655	broad.mit.edu	37	17	62496834	62496835	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7	84f4e083-573b-4c7e-9998-ad9aa5bc4df1	g.chr17:62496834_62496835insA	uc010deh.2	-	11	1316_1317	c.1273_1274insT	c.(1273-1275)tatfs	p.Y425fs	DDX5_uc002jek.2_Frame_Shift_Ins_p.Y425fs|DDX5_uc002jej.2_Frame_Shift_Ins_p.Y320fs|DDX5_uc010wqa.1_Frame_Shift_Ins_p.Y346fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	425	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCGATGAATATAATCCTCTGAG	0.396			T	ETV4	prostate								---	127	---	---	17	---					
