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
TTN	7273	broad.mit.edu	37	2	179425768	179425768	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179425768C>T	uc021vsy.1	-	274	77612	c.77387G>A	c.(77386-77388)cGa>cAa	p.R25796Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19491Q|TTN_uc021vta.1_Missense_Mutation_p.R19424Q|TTN_uc021vtb.1_Missense_Mutation_p.R19299Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26723	Fibronectin type-III 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAACGTCTCGGAACTTGAC	0.448000														111			72		0	0	0.000781405	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847181	60847181	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:60847181G>A	uc002yck.1	+	5	461	c.259_splice	c.e5-1	p.E87_splice	OSBPL2_uc002ycl.1_Splice_Site_p.E75_splice|OSBPL2_uc011aah.1_Splice_Site	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	87					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATCTTTCCAGGAGCTGTCCAA	0.597000														14			7		0	0	8.12818e-05	0	0
KCNH5	27133	broad.mit.edu	37	14	63174630	63174630	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:63174630T>A	uc001xfx.3	-	10	2614	c.2563A>T	c.(2563-2565)Aaa>Taa	p.K855*	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	855					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGTGGGTTTTTGGTCACACTG	0.458000														18			27		0	0	0.000878237	0	0
CECR1	51816	broad.mit.edu	37	22	17690364	17690364	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:17690364G>A	uc002zmk.1	-	0	416	c.204C>T	c.(202-204)atC>atT	p.I68I	CECR1_uc010gqu.1_Silent_p.I68I|CECR1_uc011agi.1_Silent_p.I26I|CECR1_uc011agj.1_Silent_p.I26I	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	68	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCATCTCAGCGATTTTGAGCG	0.512000														28			19		0	0	0.00152264	0	0
SLC15A1	6564	broad.mit.edu	37	13	99354778	99354778	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:99354778C>T	uc001vno.3	-	17	1499	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	474					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TAAGACCATCCTTTACCTGAG	0.289000														92			18		0	0	0.00047179	0	0
BTBD7	55727	broad.mit.edu	37	14	93730210	93730210	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:93730210G>A	uc001ybo.3	-	3	1618	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Missense_Mutation_p.S80F|BTBD7_uc001ybq.4_Missense_Mutation_p.S346F	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	431										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATGACCTGGGAAAATTCCTC	0.418000														28			37		0	0	0.00111076	0	0
MC5R	4161	broad.mit.edu	37	18	13826027	13826027	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:13826027C>T	uc010xaf.2	+	0	485	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	88					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTGAGCATGTCCAGTGCCTGG	0.517000														42			17		0	0	0.00121646	0	0
ZNF3	7551	broad.mit.edu	37	7	99672916	99672916	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:99672916G>A	uc003uss.3	-	1	452	c.134C>T	c.(133-135)cCt>cTt	p.P45L	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Intron|ZNF3_uc010lgj.3_Intron|ZNF3_uc003usr.3_Intron|ZNF3_uc003ust.4_Intron			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	0					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K44N(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGCAATTTCAGGGTGAGGAAT	0.502000														31			11		0	0	0.000673444	0	0
OR13A1	79290	broad.mit.edu	37	10	45799503	45799503	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:45799503G>A	uc001jcc.1	-	3	677	c.368C>T	c.(367-369)aCg>aTg	p.T123M	OR13A1_uc001jcd.1_Missense_Mutation_p.T119M|OR13A1_uc021ppq.1_Missense_Mutation_p.T123M	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCAGCCCACGTGAGGAAATA	0.597000														8			6		0	0	8.12818e-05	0	0
ADD3	120	broad.mit.edu	37	10	111860448	111860448	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:111860448C>T	uc001kyu.3	+	1	193	c.37C>T	c.(37-39)Cct>Tct	p.P13S	ADD3_uc001kyt.4_Missense_Mutation_p.P13S|ADD3_uc001kys.4_Missense_Mutation_p.P13S|ADD3_uc001kyv.3_Missense_Mutation_p.P13S|ADD3_uc001kyw.3_Missense_Mutation_p.P13S	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	13						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GATTACCACTCCTCCTCCTCC	0.433000														24			12		0	0	0.000308642	0	0
EXD1	161829	broad.mit.edu	37	15	41483761	41483761	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:41483761G>A	uc010ucv.2	-	9	1015	c.743C>T	c.(742-744)tCc>tTc	p.S248F	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.S190F	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	190					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CGTTTCCATGGAAAACTGAAG	0.378000														17			18		0	0	0.000295444	0	0
BSN	8927	broad.mit.edu	37	3	49662727	49662727	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:49662727C>T	uc003cxe.4	+	1	658	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	182					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.T181T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACGTCGACCCCCAGCCAGCC	0.592000														24			8		0	0	0.000157383	0	0
F8	2157	broad.mit.edu	37	X	154159776	154159776	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:154159776C>T	uc004fmt.3	-	13	2460	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	763	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCTTGAATTCTGGGAGAAGC	0.408000														27			54		0	0	0.000781405	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069943	57069943	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:57069943G>A	uc001njr.3	-	5	4985	c.4673C>T	c.(4672-4674)tCc>tTc	p.S1558F	TNKS1BP1_uc001njq.3_Missense_Mutation_p.S130F|TNKS1BP1_uc001njs.3_Missense_Mutation_p.S1558F	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1558	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAATGAAGGAGAAGTCCTG	0.637000														5			4		0	0	0.00024832	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169985	57169985	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:57169985G>A	uc001cyk.4	+	6	1201	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	377					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATAGCAGACAGCCCCAAAGCA	0.468000														39			16		0	0	0.000566183	0	0
KCNT2	343450	broad.mit.edu	37	1	196309670	196309670	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:196309670C>T	uc001gtd.1	-	15	1644	c.1584G>A	c.(1582-1584)agG>agA	p.R528R	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.R478R|KCNT2_uc001gtf.1_Silent_p.R528R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.R528R|KCNT2_uc001gth.1_Silent_p.R49R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	528	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R527R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATTATCCTCCCTCCTAACAC	0.308000														55			15		0	0	0.000566183	0	0
KRT73	319101	broad.mit.edu	37	12	53002213	53002213	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:53002213C>T	uc001sas.3	-	8	1425	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	464	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCATCCCGGCCATGGAG	0.622000														7			10		0	0	0.000673444	0	0
LTBP1	4052	broad.mit.edu	37	2	33589287	33589287	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:33589287G>A	uc021vft.1	+	29	4427	c.4404G>A	c.(4402-4404)atG>atA	p.M1468I	LTBP1_uc002rou.3_Missense_Mutation_p.M1142I|LTBP1_uc002rov.3_Missense_Mutation_p.M1089I|LTBP1_uc010ymz.2_Missense_Mutation_p.M1100I|LTBP1_uc010yna.2_Missense_Mutation_p.M1047I|LTBP1_uc010ynb.2_Missense_Mutation_p.M366I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1468	EGF-like 16; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTAAGATATGGATGAATGTC	0.398000														38			28		0	0	0.000692331	0	0
ZBBX	79740	broad.mit.edu	37	3	167083704	167083704	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:167083704C>T	uc011bpc.2	-	5	580	c.243G>A	c.(241-243)atG>atA	p.M81I	ZBBX_uc003feq.3_Missense_Mutation_p.M52I|ZBBX_uc003fep.3_Missense_Mutation_p.M81I	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	81						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTTGTGACATCATATATGATT	0.289000														52			12		0	0	0.000219431	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867270	2867270	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:2867270G>A	uc010ckd.3	+	6	490	c.400G>A	c.(400-402)Gag>Aag	p.E134K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E119K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	134					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTGTGAGGAGGAGGAAGAGGA	0.602000														22			7		0	0	8.12818e-05	0	0
MEX3C	51320	broad.mit.edu	37	18	48703658	48703659	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:48703658_48703659GT>AA	uc002lfc.4	-	1	1403_1404	c.1042_1043AC>TT	c.(1042-1044)act>TTt	p.T348F		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	348	KH 2.					cytoplasm|nucleus	RNA binding|zinc ion binding	p.P347L(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCTTTTAATAGTTGCTCCTTTG	0.475000														39			28		0	0	6.4e-05	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085114	35085114	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35085114G>A	uc002nvn.3	-	1	234	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA.	71						extracellular region	binding	p.S71Y(1)									TTCTGTCACGGAGACATTGGC	0.547000														41			24		0	0	0.00127121	0	0
MYO1E	4643	broad.mit.edu	37	15	59548558	59548558	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:59548558G>A	uc002aga.3	-	3	629	c.257C>T	c.(256-258)cCa>cTa	p.P86L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	86	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATAGATATGTGGTGGGTTTTC	0.313000														11			17		0	0	0.00121646	0	0
BAI2	576	broad.mit.edu	37	1	32207322	32207322	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:32207322G>A	uc001btn.3	-	9	1944	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	BAI2_uc010ogo.2_Silent_p.F172F|BAI2_uc010ogp.2_Silent_p.F463F|BAI2_uc010ogq.2_Silent_p.F530F|BAI2_uc001bto.3_Silent_p.F530F|BAI2_uc001btq.1_Silent_p.F463F|BAI2_uc010ogr.1_Silent_p.F463F	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	530					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACATCTCATGGAAGGCTGTGG	0.577000														30			4		0	0	0.000602214	0	0
SHANK1	50944	broad.mit.edu	37	19	51217085	51217085	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:51217085G>A	uc002psx.1	-	4	781	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	254					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637000														16			17		0	0	0.00074312	0	0
SLC10A7	84068	broad.mit.edu	37	4	147204355	147204355	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:147204355G>A	uc010ioz.2	-	9	1090	c.836C>T	c.(835-837)tCc>tTc	p.S279F	SLC10A7_uc003ikr.2_Missense_Mutation_p.S279F|SLC10A7_uc010ipa.2_Missense_Mutation_p.S266F|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	279						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CAATGTAAGGGATTTGTGTGT	0.333000														29			20		0	0	0.00047179	0	0
KCND3	3752	broad.mit.edu	37	1	112524806	112524806	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:112524806C>T	uc001ebu.1	-	1	1023	c.543G>A	c.(541-543)ctG>ctA	p.L181L	KCND3_uc001ebv.1_Silent_p.L181L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	181						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.T180M(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGACCAGGGCCAGCGTGCTGG	0.632000														13			10		0	0	0.000442599	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597671	101597671	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:101597671C>T	uc003knm.3	-	4	1253	c.966G>A	c.(964-966)tgG>tgA	p.W322*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	322					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.W322C(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGCAAAGATCCATGATAGAA	0.363000														35			9		0	0	0.000442599	0	0
ACSS3	79611	broad.mit.edu	37	12	81528708	81528708	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:81528708G>A	uc001szl.1	+	2	661	c.570G>A	c.(568-570)agG>agA	p.R190R	ACSS3_uc001szm.1_Silent_p.R189R	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	190						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATGTGCAAGGATAGGTGCCA	0.433000														22			23		0	0	0.000586117	0	0
NPNT	255743	broad.mit.edu	37	4	106863484	106863484	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:106863484G>A	uc011cfd.2	+	8	1087	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	NPNT_uc011cfc.2_Missense_Mutation_p.E279K|NPNT_uc011cfe.2_Missense_Mutation_p.E292K|NPNT_uc003hya.3_Missense_Mutation_p.E262K|NPNT_uc011cff.2_Missense_Mutation_p.E262K	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	262					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGTTATGATTGAACCTTCAGG	0.363000														33			17		0	0	0.000958276	0	0
OR2B6	26212	broad.mit.edu	37	6	27925712	27925712	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:27925712G>A	uc011dkx.2	+	0	694	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGTCTGCTGAAGGTCGACA	0.438000														75			37		0	0	0.00111076	0	0
CLDN4	1364	broad.mit.edu	37	7	73245737	73245737	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:73245737C>T	uc003tzi.4	+	0	545	c.206C>T	c.(205-207)tCg>tTg	p.S69L	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	69					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTACGACTCGCTGCTGGCA	0.647000														29			16		0	0	0.000566183	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252393	145252393	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:145252393C>T	uc003lns.1	-	0	139	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	47										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGTATTCCTCCTTTGGTGAC	0.498000														49			43		0	0	0.000781405	0	0
C1orf226	400793	broad.mit.edu	37	1	162353282	162353282	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:162353282G>A	uc010pkt.1	+	2	765	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	C1orf226_uc001gby.2_Missense_Mutation_p.E210K	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA.	210										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TAGCCAGGACGAATCCAAGCT	0.537000														6			6		0	0	0.000274275	0	0
EFEMP1	2202	broad.mit.edu	37	2	56108806	56108806	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:56108806C>T	uc002rzi.3	-	5	1082	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	EFEMP1_uc002rzj.3_Missense_Mutation_p.R194Q|EFEMP1_uc010ypc.2_Missense_Mutation_p.R136Q	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	194	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGGATCCCCGTAAATTGAT	0.507000														50			23		0	0	0.00188189	0	0
MYO5B	4645	broad.mit.edu	37	18	47479662	47479662	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:47479662C>T	uc002leb.2	-	13	2008	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	MYO5B_uc021ukb.1_Missense_Mutation_p.E573K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	574	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATCTGCTCTTCATACACCGTG	0.532000														51			20		0	0	0.00047179	0	0
MECR	51102	broad.mit.edu	37	1	29533276	29533276	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:29533276G>A	uc001brq.1	-	3	584	c.548C>T	c.(547-549)cCa>cTa	p.P183L	MECR_uc001brp.1_Missense_Mutation_p.P107L|MECR_uc001brt.1_Missense_Mutation_p.P107L|MECR_uc010ofz.1_Missense_Mutation_p.P183L	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GTTCCTACCTGGCTGCAGTTG	0.587000														37			18		0	0	0.000958276	0	0
LILRP2	79166	broad.mit.edu	37	19	55221524	55221524	+	RNA	SNP	A	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:55221524A>C	uc002qgs.1	+	0		c.1924A>C			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GGCCAACTTCACCCTGGGCCC	0.642000														15			12		0	0	0.00185496	0	0
PIK3C3	5289	broad.mit.edu	37	18	39613899	39613899	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:39613899C>T	uc002lap.3	+	15	1875	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	PIK3C3_uc010xcl.2_Missense_Mutation_p.P543L|PIK3C3_uc002laq.3_Missense_Mutation_p.P91L	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	606					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGAATAATTCCGGAAACAGCT	0.358000										TSP Lung(28;0.18)				45			15		0	0	0.000566183	0	0
GLOD4	51031	broad.mit.edu	37	17	680169	680169	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:680169A>G	uc002frv.3	-	3	321	c.245T>C	c.(244-246)tTt>tCt	p.F82S	GLOD4_uc002frt.3_Missense_Mutation_p.F11S|GLOD4_uc002fru.3_Missense_Mutation_p.F67S|GLOD4_uc010vqc.2_Missense_Mutation_p.F58S	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	82						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTCTGCGACAAAATGATCATC	0.413000														45			9		0	0	0.00136819	0	0
TRIM31	11074	broad.mit.edu	37	6	30079499	30079499	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:30079499G>A	uc003npg.1	-	2	549	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	147						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGCAAGACTTGGATCTGCTCT	0.507000														87			46		0	0	0.000781405	0	0
MYBL2	4605	broad.mit.edu	37	20	42331389	42331389	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:42331389G>A	uc002xlb.1	+	7	1426	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D	MYBL2_uc010zwj.1_Missense_Mutation_p.G380D	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	404						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTGGCATTGGCACACCGCCC	0.622000														14			5		0	0	0.000602214	0	0
HTR2C	3358	broad.mit.edu	37	X	114141364	114141364	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:114141364G>A	uc004epu.1	+	5	1491	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	HTR2C_uc010nqc.1_Missense_Mutation_p.E255K|HTR2C_uc004epv.1_Missense_Mutation_p.G223E	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	255					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCACACCGAGGAACCGCCTGG	0.522000														28			77		0	0	0.000781405	0	0
KIAA0564	23078	broad.mit.edu	37	13	42161701	42161701	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:42161701C>T	uc001uyj.3	-	41	5288	c.5218G>A	c.(5218-5220)Gag>Aag	p.E1740K		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1740	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CACACAGCCTCCATTGTGCGC	0.498000														41			12		0	0	0.00136819	0	0
C6	729	broad.mit.edu	37	5	41160404	41160404	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:41160404C>T	uc003jmk.2	-	10	1734	c.1524G>A	c.(1522-1524)agG>agA	p.R508R	C6_uc003jml.1_Silent_p.R508R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	508	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R508S(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAAAGCTTTCCTGAGGTTGT	0.522000														59			11		0	0	0.000978159	0	0
TINAG	27283	broad.mit.edu	37	6	54254602	54254602	+	Missense_Mutation	SNP	C	T	T	rs113922573		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:54254602C>T	uc003pcj.2	+	10	1456	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	437				S -> F (in Ref. 2; AAF08931/AAF08932).	Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCCAATTCCTGGGGAAAG	0.383000														65			54		0	0	0.000781405	0	0
GAPVD1	26130	broad.mit.edu	37	9	128094815	128094815	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:128094815C>T	uc004bpp.3	+	12	2495	c.2335C>T	c.(2335-2337)Ccc>Tcc	p.P779S	GAPVD1_uc011lzs.1_Missense_Mutation_p.P779S|GAPVD1_uc004bpq.3_Missense_Mutation_p.P779S|GAPVD1_uc010mwx.3_Missense_Mutation_p.P779S|GAPVD1_uc004bpr.3_Missense_Mutation_p.P758S|GAPVD1_uc004bps.3_Missense_Mutation_p.P779S|GAPVD1_uc010mwy.1_Missense_Mutation_p.P638S	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	779					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGAGGATATTCCCAATAAGAT	0.358000														35			44		0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	3256922	3256922	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:3256922G>A	uc022aqr.1	-	15	2786	c.2396C>T	c.(2395-2397)aCt>aTt	p.T799I	CSMD1_uc011kwj.2_Missense_Mutation_p.T192I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	800	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGTCAAAAGTTATTTTGAT	0.358000														79			29		0	0	0.00148497	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531314	140531314	+	Silent	SNP	G	A	A	rs139574362	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140531314G>A	uc003lir.3	+	0	1476	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	492	Cadherin 5.				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)			TGCCGCCCCAGGACCCGCACC	0.652000														54			16		0	0	0.000958276	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880510	15880510	+	RNA	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:15880510C>T	uc002nbo.3	-	7		c.1185G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGACCACTGGCTGTGGTGTCA	0.622000														15			7		0	0	8.12818e-05	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456123	5456123	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:5456123C>T	uc002mca.4	+	0	698	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	207	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGGGCCAGATCGCCATCCCCT	0.682000														28			34		0	0	0.000953801	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504023	66504023	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:66504023G>A	uc002lkk.2	+	3	246	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CCDC102B_uc002lki.2_Missense_Mutation_p.R8Q|CCDC102B_uc002lkj.1_Missense_Mutation_p.R8Q	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	8								p.R8Q(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCCATACATCGATTAATTGAG	0.398000														30			22		0	0	0.00152264	0	0
SYT3	84258	broad.mit.edu	37	19	51135965	51135965	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:51135965C>T	uc002pst.3	-	1	886	c.252G>A	c.(250-252)cgG>cgA	p.R84R	SYT3_uc002psv.3_Silent_p.R84R|SYT3_uc010ycd.2_Silent_p.R84R	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	84						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R84R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCCTTGTCCCGCCAGGGCA	0.657000														34			15		0	0	0.000422831	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915670	202915670	+	Silent	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:202915670A>G	uc001gyq.4	-	3	594	c.327T>C	c.(325-327)taT>taC	p.Y109Y	ADIPOR1_uc010pqd.2_Silent_p.Y33Y|ADIPOR1_uc001gyr.4_5'UTR|ADIPOR1_uc001gys.4_Silent_p.Y109Y	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	109					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.Y109C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTAGCAGATAGTCGTTGT	0.512000														59			14		0	0	0.000219431	0	0
GJA10	84694	broad.mit.edu	37	6	90604254	90604254	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:90604254A>G	uc011eaa.2	+	0	67	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	23					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CATAGTGGGGAAAATCTGGCT	0.473000														39			38		0	0	0.00128727	0	0
ZNF181	339318	broad.mit.edu	37	19	35231583	35231584	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35231583_35231584CC>AA	uc002nvu.3	+	3	760_761	c.297_298CC>AA	c.(295-300)ccccaa>ccAAaa	p.Q100K	ZNF181_uc010xsb.1_Missense_Mutation_p.Q99K|ZNF181_uc010xsc.1_Missense_Mutation_p.Q35K	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T99T(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGATTCACCCCAAACAGTAAT	0.302000														125			8		0	0	6.4e-05	0	0
CBLN2	147381	broad.mit.edu	37	18	70209164	70209164	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:70209164C>T	uc002lku.2	-	1	467	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	CBLN2_uc002lkv.2_Missense_Mutation_p.V78I	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	78						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GAGGAGGTGACGGCGCCGTCC	0.711000														16			5		0	0	0.000602214	0	0
SEC31B	25956	broad.mit.edu	37	10	102256030	102256030	+	Silent	SNP	G	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:102256030G>C	uc001krc.1	-	17	2397	c.2295C>G	c.(2293-2295)ccC>ccG	p.P765P	SEC31B_uc010qpo.1_Silent_p.P764P|SEC31B_uc001krd.1_Silent_p.P302P|SEC31B_uc001krf.1_Silent_p.P302P|SEC31B_uc001kre.1_Silent_p.P302P|SEC31B_uc001krg.1_Silent_p.P334P	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	765					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACAGTCCCTGGGTAGAAAGC	0.552000														22			7		0	0	0.000157383	0	0
TBCD	6904	broad.mit.edu	37	17	80887047	80887047	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:80887047C>T	uc002kfy.1	+	30	2882	c.2752C>T	c.(2752-2754)Cgt>Tgt	p.R918C	TBCD_uc002kfz.3_Missense_Mutation_p.R918C|TBCD_uc002kgb.1_Missense_Mutation_p.R243C|TBCD_uc002kgd.3_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	918					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGACCGTTTCCGTGCTCACGC	0.607000														18			14		0	0	0.00074312	0	0
CREBZF	58487	broad.mit.edu	37	11	85375616	85375616	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:85375616G>A	uc001pas.2	-	0	567	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	102					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCCCAGACAGAAAGTCCATA	0.711000														33			32		0	0	0.000692331	0	0
HERC2	8924	broad.mit.edu	37	15	28420712	28420712	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:28420712G>A	uc001zbj.3	-	63	9883	c.9777C>T	c.(9775-9777)atC>atT	p.I3259I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3259					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I3259I(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACATGCACGATCTTCTTCC	0.637000														9			10		0	0	0.000978159	0	0
SLC26A5	375611	broad.mit.edu	37	7	103048315	103048315	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:103048315G>A	uc003vbz.3	-	7	1133	c.871C>T	c.(871-873)Cct>Tct	p.P291S	SLC26A5_uc003vbt.2_Missense_Mutation_p.P291S|SLC26A5_uc003vbu.2_Missense_Mutation_p.P291S|SLC26A5_uc003vbv.2_Missense_Mutation_p.P291S|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.P291S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	291					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACTCTAAAGGAATAGGCGCC	0.453000														49			16		0	0	0.000422831	0	0
ZNF33A	7581	broad.mit.edu	37	10	38299687	38299687	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:38299687G>A	uc010qev.2	+	0	110	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ZNF33A_uc001izg.3_5'UTR|ZNF33A_uc001izh.3_5'UTR|ZNF33A_uc001izi.1_5'UTR	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTCTATGGCGAATGCAACCC	0.642000														15			11		0	0	0.000219431	0	0
CACNA1B	774	broad.mit.edu	37	9	140941478	140941478	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:140941478G>A	uc004cog.3	+	21	3681	c.3536G>A	c.(3535-3537)aGg>aAg	p.R1179K	CACNA1B_uc022bqn.1_Missense_Mutation_p.R1179K|CACNA1B_uc011mfd.2_Missense_Mutation_p.R780K|CACNA1B_uc004coi.3_Missense_Mutation_p.R389K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1179					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GACTCGCCCAGGAACAACGTG	0.672000														1			4		0	0	0.00024832	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203025	140203025	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140203025G>A	uc003lhl.2	+	0	1665	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.L555L|PCDHAC2_uc003lhj.1_Silent_p.L555L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	570	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGTGCTGGACGAGAACG	0.706000														38			24		0	0	0.00178596	0	0
WWP2	11060	broad.mit.edu	37	16	69965485	69965485	+	Splice_Site	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:69965485T>C	uc002exu.1	+	16	1682	c.1593_splice	c.e16+2	p.Q531_splice	WWP2_uc002exv.1_Splice_Site_p.Q531_splice|WWP2_uc010vlm.1_Splice_Site_p.Q415_splice|WWP2_uc010vln.1_Splice_Site_p.Q149_splice|WWP2_uc002exw.1_Splice_Site_p.Q92_splice|MIR140_uc002exx.1_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	531					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCAACAGGTTAGATCATGG	0.507000														64			23		0	0	0.00047179	0	0
NEB	4703	broad.mit.edu	37	2	152426609	152426609	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:152426609C>T	uc021vrb.1	-	79	12342	c.12313G>A	c.(12313-12315)Gaa>Aaa	p.E4105K	NEB_uc002txr.3_Missense_Mutation_p.E571K|NEB_uc002txu.3_Missense_Mutation_p.E5806K|NEB_uc021vrc.1_Missense_Mutation_p.E5806K|NEB_uc010fnx.3_Missense_Mutation_p.E4093K|NEB_uc021vrd.1_Missense_Mutation_p.E4105K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4105					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGCAGTTCGTAGGCCTTC	0.512000														17			6		0	0	0.00116845	0	0
EPHB6	2051	broad.mit.edu	37	7	142568069	142568069	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:142568069C>G	uc011kst.2	+	17	3497	c.2710C>G	c.(2710-2712)Cgg>Ggg	p.R904G	EPHB6_uc011ksu.2_Missense_Mutation_p.R904G|EPHB6_uc003wbs.3_Missense_Mutation_p.R612G|EPHB6_uc003wbt.3_Missense_Mutation_p.R378G|EPHB6_uc003wbu.3_Missense_Mutation_p.R612G|EPHB6_uc003wbv.3_Missense_Mutation_p.R288G	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	904	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACCGTGCCCGGCGGCCTCA	0.582000														90			25		0	0	0.00106085	0	0
KRT40	125115	broad.mit.edu	37	17	39138585	39138585	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:39138585G>A	uc010cxh.1	-	4	822	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	221	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTAAGGCAAAGGAGATCTTCC	0.483000														38			11		0	0	0.000673444	0	0
RASSF4	83937	broad.mit.edu	37	10	45467140	45467140	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:45467140A>T	uc001jbp.3	+	1	1624	c.75A>T	c.(73-75)gaA>gaT	p.E25D	RASSF4_uc001jbo.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	0					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						caaatgaggaaacagaggcca	0.567000														16			6		0	0	8.12818e-05	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761933	31761933	+	Silent	SNP	C	T	T	rs149183452		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:31761933C>T	uc002wyo.1	+	3	422	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	117						extracellular region	lipid binding										CTGAACCGATCGATGATGGCA	0.512000														33			9		0	0	0.000673444	0	0
GABRB1	2560	broad.mit.edu	37	4	47408913	47408913	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:47408913G>A	uc003gxh.3	+	7	1424	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	GABRB1_uc011bze.2_Silent_p.E280E	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	350					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTGCCAATGAGAAGAATAAAC	0.393000														37			22		0	0	0.000295444	0	0
PSG5	5673	broad.mit.edu	37	19	43689216	43689216	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:43689216C>T	uc002ovu.3	-	1	279	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.D50N	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	50	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGAAGAACATCCTTCCCCTCG	0.453000														99			42		0	0	0.000437636	0	0
CCDC76	54482	broad.mit.edu	37	1	100613462	100613462	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:100613462G>A	uc001dsv.3	+	9	849	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	CCDC76_uc010ouf.2_Intron|CCDC76_uc009wea.3_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	277					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		CTTGCATTACGATGTTTGGTT	0.328000														41			12		0	0	0.000219431	0	0
BRIP1	83990	broad.mit.edu	37	17	59858249	59858249	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:59858249C>T	uc002izk.2	-	11	2052	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	BRIP1_uc002izl.1_5'UTR	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	582					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTGCAGTTTTCTGTCGTGAAC	0.368000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						92			58		0	0	0.000781405	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26885418	26885418	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:26885418C>T	uc001bmr.1	+	13	1368	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	RPS6KA1_uc010ofe.1_Missense_Mutation_p.S310L|RPS6KA1_uc010off.1_Missense_Mutation_p.S386L|RPS6KA1_uc001bms.1_Missense_Mutation_p.S411L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S245L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	402					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCCCTGCACTCGGTGGTACAG	0.612000														18			11		0	0	0.00136819	0	0
SLC6A2	6530	broad.mit.edu	37	16	55735810	55735810	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:55735810C>T	uc021tio.1	+	12	1845	c.1794C>T	c.(1792-1794)caC>caT	p.H598H	SLC6A2_uc002eif.3_Silent_p.H598H|SLC6A2_uc002eig.3_Silent_p.H598H|SLC6A2_uc002eii.3_Silent_p.H493H|SLC6A2_uc002eij.3_Silent_p.H312H|SLC6A2_uc021tip.1_Non-coding_Transcript	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	598					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGAACGAGCACCACCTGGTGG	0.617000											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			9		0	0	0.000673444	0	0
KCNC1	3746	broad.mit.edu	37	11	17794121	17794121	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:17794121G>A	uc009yhc.1	+	1	1535	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	KCNC1_uc001mnk.4_Missense_Mutation_p.E494K	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	494						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						GGCCCAGGAAGAAATTTTAGA	0.498000														26			34		0	0	0.00058488	0	0
C6orf10	10665	broad.mit.edu	37	6	32304392	32304392	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:32304392G>A	uc021yvt.1	-	12	603	c.430_splice	c.e12+1	p.P144_splice	C6orf10_uc011dpx.2_Splice_Site_p.P121_splice|C6orf10_uc021yvs.1_Intron|C6orf10_uc011dpz.2_Splice_Site_p.P128_splice|C6orf10_uc021yvu.1_Splice_Site_p.P128_splice|C6orf10_uc021yvv.1_Splice_Site_p.P121_splice	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	144						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGATACTTACGAATAGGGGCT	0.353000														26			12		0	0	0.000308642	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401010	11401010	+	Missense_Mutation	SNP	A	T	T	rs74785727		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:11401010A>T	uc003gmq.3	-	1	943	c.620T>A	c.(619-621)tTc>tAc	p.F207Y	HS3ST1_uc021xmg.1_Missense_Mutation_p.F207Y	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	207						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.F207F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCGCAGCGGGAAAAAGCGCAG	0.597000														22			16		0	0	0.000308642	0	0
TMEM51	55092	broad.mit.edu	37	1	15546075	15546075	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:15546075C>T	uc001avw.4	+	3	1117	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	TMEM51_uc010obk.2_Missense_Mutation_p.P200S|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Missense_Mutation_p.P200S|TMEM51_uc001avx.3_Missense_Mutation_p.P200S	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	200						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		ACGACTGAAACCGCTGAAAGT	0.537000														33			29		0	0	0.00127121	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:99012478C>T	uc010fij.3	+	7	998	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CNGA3_uc002syt.3_Missense_Mutation_p.S282F|CNGA3_uc002syu.3_Missense_Mutation_p.S264F			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000														18			10		0	0	0.000442599	0	0
COL4A1	1282	broad.mit.edu	37	13	110826835	110826835	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:110826835G>A	uc001vqw.4	-	38	3486	c.3364C>T	c.(3364-3366)Ctc>Ttc	p.L1122F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1122	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATCCTGGGAGGCCTTTGTCA	0.493000														28			13		0	0	0.00074312	0	0
MAPT	4137	broad.mit.edu	37	17	44101502	44101502	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:44101502G>A	uc002ijr.4	+	13	2564	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	MAPT_uc010dau.3_Missense_Mutation_p.E766K|MAPT_uc002ijs.4_Missense_Mutation_p.E431K|MAPT_uc002ijx.4_Missense_Mutation_p.E402K|MAPT_uc021tyv.1_Missense_Mutation_p.E400K|MAPT_uc002ijt.4_Missense_Mutation_p.E373K|MAPT_uc021tyw.1_Missense_Mutation_p.E371K|MAPT_uc002iju.4_Missense_Mutation_p.E342K	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	748					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCTAGCTGACGAGGTGTCTGC	0.572000														33			13		0	0	0.000219431	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013547	17013547	+	Silent	SNP	G	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:17013547G>T	uc002nfb.3	-	34	4770	c.4738C>A	c.(4738-4740)Cga>Aga	p.R1580R	CPAMD8_uc002nfd.1_Silent_p.R45R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1533						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGTCTCCTCGGGAACCCTCA	0.657000														44			4		0.000602214	0.00366551	0.000602214	1	0
TIE1	7075	broad.mit.edu	37	1	43777724	43777724	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:43777724C>T	uc001ciu.3	+	10	1729	c.1552C>T	c.(1552-1554)Cgt>Tgt	p.R518C	TIE1_uc010okd.2_Missense_Mutation_p.R518C|TIE1_uc010oke.2_Missense_Mutation_p.R473C|TIE1_uc009vwq.3_Missense_Mutation_p.R474C|TIE1_uc010okf.1_Missense_Mutation_p.R163C|TIE1_uc010okg.2_Missense_Mutation_p.R163C	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	518	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATACAGTGTTCGTGTGCAGCT	0.602000														32			6		0	0	0.00116845	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109969	95109969	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:95109969G>A	uc001ydt.3	+	2	1006	c.918G>A	c.(916-918)ggG>ggA	p.G306G						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						ACCACGCTGGGAACACCACCA	0.582000														7			12		0	0	0.00185496	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466558	120466558	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:120466558C>T	uc001eik.3	-	25	4858	c.4561G>A	c.(4561-4563)Ggg>Agg	p.G1521R		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1521	Negative regulatory region (NRR).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTTGCACCCCTGGTCACAG	0.512000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					130			87		0	0	0.000781405	0	0
TPTE	7179	broad.mit.edu	37	21	10944706	10944706	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:10944706G>A	uc002yip.1	-	10	896	c.528C>T	c.(526-528)taC>taT	p.Y176Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.Y158Y|TPTE_uc002yir.1_Silent_p.Y138Y|TPTE_uc010gkv.1_Silent_p.Y38Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	176					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAAAAAATGTAAACGACAT	0.299000														253			26		0	0	0.000339439	0	0
FBXW9	84261	broad.mit.edu	37	19	12807335	12807335	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:12807335C>T	uc010dyx.2	-	0	61	c.61G>A	c.(61-63)Gag>Aag	p.E21K	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_Missense_Mutation_p.E21K	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	21							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GTCTCTGACTCTGGGTCCGAG	0.672000														21			11		0	0	0.000673444	0	0
MMP24	10893	broad.mit.edu	37	20	33842281	33842281	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:33842281G>A	uc002xbu.2	+	3	544	c.541G>A	c.(541-543)Gag>Aag	p.E181K	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	181					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAAAGTGGGTGAGCTAGACAC	0.488000														64			26		0	0	0.00106085	0	0
NNMT	4837	broad.mit.edu	37	11	114168772	114168772	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:114168772A>G	uc001por.1	+	3	518	c.254A>G	c.(253-255)gAc>gGc	p.D85G	NNMT_uc001pos.1_Missense_Mutation_p.D85G	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	85					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTCGTCACTGACTACTCAGAC	0.527000														40			12		0	0	0.000422831	0	0
LARP1B	55132	broad.mit.edu	37	4	129099679	129099679	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:129099679C>T	uc003iga.3	+	13	1909	c.1778C>T	c.(1777-1779)tCt>tTt	p.S593F	LARP1B_uc003igc.3_Missense_Mutation_p.S12F|LARP1B_uc010ioa.2_5'Flank|LARP1B_uc003ige.3_5'Flank|LARP1B_uc003igd.3_5'Flank|LARP1B_uc003igb.1_Missense_Mutation_p.S296F	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	593							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTTCCAGAATCTCCTAGAATT	0.378000														167			67		0	0	0.000781405	0	0
ADH1A	124	broad.mit.edu	37	4	100205881	100205881	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:100205881C>T	uc003hur.2	-	3	453	c.339G>A	c.(337-339)ttG>ttA	p.L113L	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Silent_p.L113L	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	113					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACTCGTTTTTCAAGCAGTAGT	0.433000														44			16		0	0	0.000566183	0	0
USP10	9100	broad.mit.edu	37	16	84801964	84801964	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:84801964G>A	uc010voe.2	+	12	2261	c.2010_splice	c.e12+1	p.E670_splice	USP10_uc002fii.3_Splice_Site_p.E666_splice|USP10_uc010vof.2_Splice_Site_p.E228_splice|USP10_uc002fij.3_Splice_Site_p.E192_splice	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	666					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCAAACAAGAGGTATGTTCAC	0.433000														9			6		0	0	8.12818e-05	0	0
SRRM2	23524	broad.mit.edu	37	16	2815721	2815721	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:2815721C>T	uc002crk.3	+	10	5741	c.5192C>T	c.(5191-5193)tCt>tTt	p.S1731F	SRRM2_uc002crj.1_Missense_Mutation_p.S1635F|SRRM2_uc002crl.1_Missense_Mutation_p.S1731F|SRRM2_uc010bsu.1_Missense_Mutation_p.S1635F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1731	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCTCAGTGTCTTCCCCGGAG	0.592000														15			13		0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179454318	179454318	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179454318A>G	uc021vsy.1	-	252	54655	c.54430T>C	c.(54430-54432)Tcc>Ccc	p.S18144P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S11839P|TTN_uc021vta.1_Missense_Mutation_p.S11772P|TTN_uc021vtb.1_Missense_Mutation_p.S11647P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19071	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTCATCGGAGCCCTTAAGC	0.418000														67			44		0	0	0.000589545	0	0
ATP4A	495	broad.mit.edu	37	19	36045841	36045841	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:36045841C>T	uc002oal.1	-	15	2493	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	822					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGCAGAGTTCGATGAAGAGG	0.562000														25			12		0	0	0.00185496	0	0
PTPN14	5784	broad.mit.edu	37	1	214557829	214557829	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:214557829G>A	uc001hkk.2	-	12	2022	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	PTPN14_uc021piy.1_Silent_p.L221L|PTPN14_uc010pty.2_Silent_p.L358L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	457					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCTGTATGCAGGATCCCCCTC	0.562000														115			81		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140181796C>T	uc003lhf.2	+	0	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L338L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	353	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)			CAGTTCTACTCGAAATTGTGG	0.398000														35			31		0	0	0.000409698	0	0
ODZ1	10178	broad.mit.edu	37	X	123514833	123514833	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:123514833C>A	uc010nqy.3	-	31	7816	c.7752G>T	c.(7750-7752)aaG>aaT	p.K2584N	ODZ1_uc011muj.2_Missense_Mutation_p.K2583N|ODZ1_uc004euj.3_Missense_Mutation_p.K2577N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2577					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GAGACCCAAGCTTAATGAAGT	0.498000														16			42		1.48646e-12	9.16605e-12	0.000509022	1	0
MIOS	54468	broad.mit.edu	37	7	7646670	7646670	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:7646670A>G	uc003srf.3	+	12	2883	c.2575A>G	c.(2575-2577)Atg>Gtg	p.M859V	MIOS_uc003srg.3_Missense_Mutation_p.M394V|MIOS_uc010ktq.3_Missense_Mutation_p.M254V	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	859										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTAAATGTATGCAGTTGGA	0.408000														39			35		0	0	0.000437636	0	0
FAM48A	55578	broad.mit.edu	37	13	37619431	37619432	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:37619431_37619432GG>TT	uc001uwk.3	-	5	492_493	c.244_245CC>AA	c.(244-246)cca>AAa	p.P82K	FAM48A_uc010abt.3_Missense_Mutation_p.P83K|FAM48A_uc001uwg.3_Missense_Mutation_p.P82K|FAM48A_uc001uwh.3_Missense_Mutation_p.P83K|FAM48A_uc001uwi.3_Missense_Mutation_p.P82K|FAM48A_uc001uwj.3_Missense_Mutation_p.P83K|FAM48A_uc010tes.1_Missense_Mutation_p.P70K|FAM48A_uc001uwl.1_Missense_Mutation_p.P82K	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	82					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CTCATTTCCTGGGTATAGATTG	0.411000														42			5		0	0	6.4e-05	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701119	60701119	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:60701119C>G	uc001nqi.3	+	7	1658	c.1465C>G	c.(1465-1467)Ctg>Gtg	p.L489V	TMEM132A_uc001nqj.3_Missense_Mutation_p.L488V|TMEM132A_uc001nqk.3_Missense_Mutation_p.L501V|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	488						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTCGCTGCGGCTGACCGTGTG	0.716000														5			8		0	0	0.000157383	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														66			14		0	0	0.000422831	0	0
MSI2	124540	broad.mit.edu	37	17	55752377	55752378	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:55752377_55752378CC>TT	uc002iuz.1	+	11	1008_1009	c.835_836CC>TT	c.(835-837)cca>TTa	p.P279L	MSI2_uc010wnm.1_Missense_Mutation_p.P275L	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	279						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGCCAACAGCCCAGGACCTGTC	0.678000			T	HOXA9	CML									90			35		0	0	6.4e-05	0	0
OSMR	9180	broad.mit.edu	37	5	38921839	38921839	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:38921839G>A	uc003jln.2	+	11	2110	c.1708G>A	c.(1708-1710)Ggt>Agt	p.G570S	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	570	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.L569L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGATGTGCTCGGTGATTTCCA	0.473000														55			10		0	0	0.000673444	0	0
KCNK2	3776	broad.mit.edu	37	1	215259778	215259778	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:215259778C>T	uc001hkq.3	+	1	283	c.114C>T	c.(112-114)tcC>tcT	p.S38S	KCNK2_uc001hko.3_Silent_p.S34S|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.S23S	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	38							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTCGTTTTCCACGAAACCCA	0.512000														54			15		0	0	0.000422831	0	0
LCA5L	150082	broad.mit.edu	37	21	40783685	40783685	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:40783685C>T	uc002yxu.3	-	6	1332	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	LCA5L_uc002yxv.3_Missense_Mutation_p.R340Q	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	340								p.R340*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTAAGTATTCGATGACTATA	0.294000														40			8		0	0	0.000442599	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536291	108536291	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:108536291C>T	uc004bcu.1	+	5	923	c.806C>T	c.(805-807)tCa>tTa	p.S269L	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	269						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGCGTTGGGTCATTGGCCTCA	0.408000														24			37		0	0	0.000953801	0	0
RBM4B	83759	broad.mit.edu	37	11	66436569	66436569	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:66436569G>A	uc001oja.3	-	1	1275	c.606C>T	c.(604-606)acC>acT	p.T202T	RBM4B_uc001ojb.3_Silent_p.T202T	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	Homo sapiens RNA binding motif protein 4B (RBM4B), mRNA.	202	Interaction with TNPO3 (By similarity).				RNA splicing|circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing	nucleolus	RNA binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CGTAGCCCATGGTGTAAGGTG	0.512000														9			20		0	0	0.00152264	0	0
KCNK6	9424	broad.mit.edu	37	19	38817597	38817597	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:38817597C>T	uc002oic.3	+	1	794	c.687C>T	c.(685-687)ccC>ccT	p.P229P	KCNK6_uc002oid.3_Silent_p.P95P	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	229						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTGGCCAGCCCTACCGGGCCC	0.627000														47			19		0	0	0.000375601	0	0
EPHB4	2050	broad.mit.edu	37	7	100404068	100404068	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:100404068G>A	uc003uwn.1	-	13	2949	c.2458C>T	c.(2458-2460)Ccg>Tcg	p.P820S	EPHB4_uc003uwm.1_Missense_Mutation_p.P727S|EPHB4_uc010lhj.1_Missense_Mutation_p.P820S	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	820	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCCAGTACGGCCTCTCCCCA	0.567000														36			7		0	0	0.000157383	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171836	102171836	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:102171836C>T	uc003dvt.1	+	2	328	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ZPLD1_uc003dvs.1_Silent_p.F60F|ZPLD1_uc011bhg.1_Silent_p.F60F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	60	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGGTACTTTTCTCGGGTTATT	0.403000														32			26		0	0	0.000878237	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092777	30092777	+	RNA	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:30092777C>T	uc010dmc.3	+	0		c.1152C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GAACTGACTCCTCTTCAAGCC	0.438000														27			12		0	0	0.000978159	0	0
CMYA5	202333	broad.mit.edu	37	5	79029915	79029915	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:79029915G>A	uc003kgc.3	+	1	5399	c.5327G>A	c.(5326-5328)gGa>gAa	p.G1776E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1776						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCACCAACTGGAAATTTGAAG	0.403000														47			33		0	0	0.00148497	0	0
HDLBP	3069	broad.mit.edu	37	2	242203964	242203964	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:242203964G>A	uc002waz.3	-	3	306	c.133C>T	c.(133-135)Cct>Tct	p.P45S	HDLBP_uc002wba.3_Missense_Mutation_p.P45S|HDLBP_uc021vzg.1_Missense_Mutation_p.P81S|HDLBP_uc010fzn.1_5'UTR|DKFZp686L08115_uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	45					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGAAGTGGAGGGAAGGCATCC	0.517000														85			78		0	0	0.000781405	0	0
CFB	629	broad.mit.edu	37	6	31915741	31915741	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:31915741G>A	uc003nyj.4	+	5	1058	c.780G>A	c.(778-780)aaG>aaA	p.K260K	CFB_uc011dor.2_Silent_p.K762K|CFB_uc003nyi.2_Silent_p.K260K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	260					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAAGCGGAAGATCGTCCTGG	0.552000														103			63		0	0	0.000781405	0	0
SH2D4A	63898	broad.mit.edu	37	8	19250940	19250940	+	Missense_Mutation	SNP	C	T	T	rs116257653	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:19250940C>T	uc003wzc.3	+	8	1468	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	SH2D4A_uc003wzb.3_Missense_Mutation_p.S387L|SH2D4A_uc011kym.2_Missense_Mutation_p.S342L	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	387	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TCCTATCTGTCGGAGGACGGC	0.532000														76			43		0	0	0.000509022	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083809	176083809	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:176083809C>T	uc003met.3	+	6	977	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	TSPAN17_uc003mes.3_Missense_Mutation_p.L139F|TSPAN17_uc003meu.3_Missense_Mutation_p.L247F|TSPAN17_uc003mew.3_Missense_Mutation_p.L247F	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCGCCCTCCTCCAGGT	0.622000														37			9		0	0	0.000442599	0	0
IL4R	3566	broad.mit.edu	37	16	27374897	27374897	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:27374897C>T	uc002don.3	+	10	2466	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	IL4R_uc002dop.4_Missense_Mutation_p.P727S|IL4R_uc010bxy.3_Missense_Mutation_p.P742S|IL4R_uc002doo.3_Missense_Mutation_p.P582S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	742					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGGCCAGTCCTTGCTGTGG	0.637000														31			8		0	0	0.000157383	0	0
KCNB2	9312	broad.mit.edu	37	8	73850152	73850152	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:73850152C>T	uc003xzb.3	+	2	3150	c.2562C>T	c.(2560-2562)tcC>tcT	p.S854S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	854					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGGCTCTTCCTCCCCGCAGG	0.502000														44			29		0	0	0.00106085	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654904	8654904	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:8654904G>A	uc003wsj.1	-	1	3659	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1032										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGTCGGCGTGGGTGGGTAAA	0.567000														17			14		0	0	0.000308642	0	0
OR10T2	128360	broad.mit.edu	37	1	158368576	158368576	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158368576C>T	uc010pih.2	-	0	681	c.681G>A	c.(679-681)ctG>ctA	p.L227L		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGGGGATCTTCAGGATGGTGT	0.458000														34			22		0	0	0.00047179	0	0
PRR16	51334	broad.mit.edu	37	5	120021835	120021835	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:120021835G>A	uc003ksq.3	+	1	509	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PRR16_uc003ksp.3_Missense_Mutation_p.V93I|PRR16_uc003ksr.3_Missense_Mutation_p.V46I	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	116	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TATCCTCACGGTCCTGAGAAA	0.522000														29			33		0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9083532	9083532	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:9083532G>A	uc002mkp.3	-	0	8487	c.8283C>T	c.(8281-8283)ttC>ttT	p.F2761F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2761	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCTGACTGAATACAAGGG	0.498000														55			9		0	0	0.000442599	0	0
CHODL	140578	broad.mit.edu	37	21	19632525	19632525	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:19632525C>T	uc002ykv.3	+	3	947	c.556C>T	c.(556-558)Cca>Tca	p.P186S	CHODL_uc002ykr.3_Missense_Mutation_p.P145S|CHODL_uc002yks.3_Missense_Mutation_p.P145S|CHODL_uc021whr.1_Missense_Mutation_p.P145S|CHODL_uc002ykt.3_Missense_Mutation_p.P145S|CHODL_uc002yku.3_Missense_Mutation_p.P145S|CHODL_uc021whs.1_Missense_Mutation_p.P167S	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	186					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGAGATTAATCCAACAGCCCC	0.289000														72			19		0	0	0.00152264	0	0
CTC1	80169	broad.mit.edu	37	17	8132659	8132659	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:8132659G>A	uc002gkq.4	-	18	3176	c.3117C>T	c.(3115-3117)ctC>ctT	p.L1039L	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1039					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACACCCAGAAGAGCTGAAGGC	0.567000														44			29		0	0	0.00178596	0	0
PVRL4	81607	broad.mit.edu	37	1	161047265	161047265	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:161047265G>A	uc001fxo.2	-	2	1007	c.708C>T	c.(706-708)atC>atT	p.I236I	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	236	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGATGTGGGTGATCCTTTGGT	0.582000														120			49		0	0	0.000781405	0	0
DDX27	55661	broad.mit.edu	37	20	47853027	47853027	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:47853027A>G	uc002xuh.3	+	13	1821	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	587	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCCCTGTGAAGGCCAGGATA	0.597000														30			58		0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86415993	86415993	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:86415993C>T	uc003uid.3	+	2	1984	c.885C>T	c.(883-885)ttC>ttT	p.F295F	GRM3_uc010lef.3_Silent_p.F293F|GRM3_uc010leg.3_Silent_p.F167F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	295					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGCCTCCTTCACCTGGGTGG	0.677000														26			8		0	0	0.000442599	0	0
ODZ3	55714	broad.mit.edu	37	4	183522260	183522260	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:183522260C>T	uc003ivd.1	+	2	770	c.695C>T	c.(694-696)tCc>tTc	p.S232F	ODZ3_uc021xux.1_Missense_Mutation_p.S139F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	232	Teneurin N-terminal.				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)		ACACCCGAGTCCGTCCAGCTG	0.532000														56			33		0	0	0.00148497	0	0
SGCZ	137868	broad.mit.edu	37	8	13948061	13948061	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:13948061C>T	uc003wwq.3	-	7	1490	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	SGCZ_uc010lss.3_Missense_Mutation_p.R230Q	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	264					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACTGTCTGTCGAGAACTTGA	0.458000														59			34		0	0	0.00111076	0	0
PCLO	27445	broad.mit.edu	37	7	82457235	82457235	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:82457235G>A	uc003uhx.2	-	16	14586	c.14297C>T	c.(14296-14298)cCt>cTt	p.P4766L	PCLO_uc003uhv.2_Missense_Mutation_p.P4766L|PCLO_uc003uht.1_Missense_Mutation_p.P208L|PCLO_uc003uhu.1_Missense_Mutation_p.P187L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4628					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCCACTCAGGATTAAGACT	0.333000														15			9		0	0	0.000274275	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444475	82444475	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:82444475G>A	uc002bgt.1	-	17	2489	c.2320C>T	c.(2320-2322)Cgt>Tgt	p.R774C	EFTUD1_uc002bgu.1_Missense_Mutation_p.R723C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	774					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCATAGAACGAATCAAATCA	0.418000														25			25		0	0	0.000586117	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373303	86373303	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:86373303G>A	uc010sum.2	-	5	1432	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	MGAT4C_uc001tal.4_Missense_Mutation_p.R401W|MGAT4C_uc001taj.4_Missense_Mutation_p.R401W|MGAT4C_uc001tak.4_Missense_Mutation_p.R401W|MGAT4C_uc001tai.4_Missense_Mutation_p.R401W|MGAT4C_uc001tah.4_Missense_Mutation_p.R401W	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	401					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATTTTGCCGATCTTCTGTT	0.348000														22			25		0	0	0.000586117	0	0
COL28A1	340267	broad.mit.edu	37	7	7472319	7472319	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:7472319G>A	uc003src.1	-	23	1990	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	COL28A1_uc011jxe.1_Missense_Mutation_p.P308S|COL28A1_uc003srd.3_Missense_Mutation_p.P180S|COL28A1_uc003sre.1_Missense_Mutation_p.P46S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	625					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCCCCGAGGGCCTTGGACA	0.473000														32			16		0	0	0.000958276	0	0
F13A1	2162	broad.mit.edu	37	6	6305692	6305692	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:6305692C>T	uc003mwv.3	-	2	334	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	71					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTGTTGTTTTCATACTTGTCA	0.453000														43			24		0	0	0.00127121	0	0
PDYN	5173	broad.mit.edu	37	20	1961292	1961292	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:1961292C>T	uc010gaj.3	-	2	684	c.442G>A	c.(442-444)Gat>Aat	p.D148N	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.D148N|PDYN_uc021vzt.1_Missense_Mutation_p.D148N|PDYN_uc021vzu.1_Missense_Mutation_p.D148N|PDYN_uc002wfv.3_Missense_Mutation_p.D148N	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	148					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTGGGCATCCCTCATCAGC	0.557000														32			11		0	0	0.000673444	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351124	40351124	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:40351124C>T	uc003gva.1	+	3	607	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	197					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.F197F(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTCTGACTTCATTGAAGATG	0.512000														85			39		0	0	0.00128727	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400182	47400182	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:47400182C>T	uc001cqp.4	-	6	891	c.840G>A	c.(838-840)ctG>ctA	p.L280L	CYP4A11_uc001cqq.2_Silent_p.L280L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	280					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGATCTTCTCCAGCTCCCCCT	0.517000														44			20		0	0	0.00127121	0	0
ABCC5	10057	broad.mit.edu	37	3	183699584	183699584	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:183699584C>T	uc003fmg.3	-	7	1243	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.E360K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	360	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTAAGAACTTCATTCATCTTC	0.408000														42			31		0	0	0.000409698	0	0
LCTL	197021	broad.mit.edu	37	15	66844489	66844489	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:66844489G>A	uc002aqc.3	-	9	1348	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	LCTL_uc002aqd.4_Missense_Mutation_p.P233S|LCTL_uc010bhw.3_Missense_Mutation_p.P104S	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	406					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.P406A(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACATATATGGGAGGATCACCG	0.358000														26			26		0	0	0.00178596	0	0
CCDC73	493860	broad.mit.edu	37	11	32636437	32636437	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:32636437G>A	uc001mtv.3	-	15	1471	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	476										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCATCCTGAGAAACAACAGT	0.333000														26			27		0	0	0.00127121	0	0
RCAN2	10231	broad.mit.edu	37	6	46216633	46216633	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:46216633C>T	uc003oyc.2	-	3	379	c.226_splice	c.e3-1	p.E76_splice	RCAN2_uc003oyb.2_Splice_Site_p.E30_splice|RCAN2_uc003oyd.2_Splice_Site_p.E76_splice	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	30					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.E30K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCAAATTTTTCCTGATAAAAA	0.368000														27			5		0	0	0.00116845	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593852	156593853	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:156593852_156593853GG>AA	uc001fpn.1	+	3	746_747	c.339_340GG>AA	c.(337-342)ctggtc>ctAAtc	p.V114I	HAPLN2_uc010phq.1_Missense_Mutation_p.V114I	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	114	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCCTCCCTGGTCATCGCGGG	0.683000														15			9		0	0	6.4e-05	0	0
ADAM19	8728	broad.mit.edu	37	5	156917439	156917439	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:156917439C>A	uc003lwz.3	-	18	2198	c.2119G>T	c.(2119-2121)Gtg>Ttg	p.V707L	ADAM19_uc003lww.2_Missense_Mutation_p.V440L|ADAM19_uc003lwy.3_Missense_Mutation_p.V306L|ADAM19_uc011ddr.1_Missense_Mutation_p.V638L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	707					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACCAACACTCCAGCTACC	0.512000														42			8		5.4927e-09	3.38068e-08	0.000274275	1	0
CD1A	909	broad.mit.edu	37	1	158225031	158225031	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158225031G>A	uc001frt.3	+	1	749	c.216G>A	c.(214-216)agG>agA	p.R72R	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	72					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCTGGTCCAGGGGAAACTTCA	0.488000														68			27		0	0	0.000409698	0	0
FAT3	120114	broad.mit.edu	37	11	92085966	92085966	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:92085966G>A	uc001pdj.4	+	0	705	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	230	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTATGATCTGGAAATTTTGGC	0.393000										TCGA Ovarian(4;0.039)				149			186		0	0	0.000781405	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240876	26240876	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:26240876G>A	uc003nhe.1	+	0	223	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_003540	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4f (HIST1H4F), mRNA.	75					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AACCTACACGGAGCACGCCAA	0.582000														26			10		0	0	0.000978159	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735718	55735718	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:55735718C>T	uc010rit.2	-	0	222	c.222G>A	c.(220-222)atG>atA	p.M74I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCCAAATGTCCATGAGCATTC	0.383000														29			33		0	0	0.00058488	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581034	40581034	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:40581034G>A	uc010xvh.2	-	5	1466	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.H439Y|ZNF780A_uc002omz.3_Missense_Mutation_p.H439Y	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTCTGA	0.383000														130			27		0	0	0.00127121	0	0
SGPL1	8879	broad.mit.edu	37	10	72631691	72631691	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:72631691C>T	uc001jrm.3	+	10	1229	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	SGPL1_uc009xqk.3_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	336					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CTGGAGCACCCATTTGATTTC	0.458000														38			8		0	0	0.000274275	0	0
NUP54	53371	broad.mit.edu	37	4	77065565	77065565	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:77065565G>A	uc003hjs.3	-	1	257	c.129C>T	c.(127-129)gcC>gcT	p.A43A	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Silent_p.A43A|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	43	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.S42C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTTAGTTGGGGCAGAAAAGC	0.358000														44			22		0	0	0.000295444	0	0
CHD1	1105	broad.mit.edu	37	5	98228321	98228321	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:98228321G>A	uc003knf.3	-	13	2236	c.2088C>T	c.(2086-2088)cgC>cgT	p.R696R		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	696					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTAACTCGGCGTAACAGAA	0.393000														65			35		0	0	0.00058488	0	0
ABCA13	154664	broad.mit.edu	37	7	48314058	48314058	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:48314058C>T	uc003toq.2	+	16	4819	c.4795C>T	c.(4795-4797)Cac>Tac	p.H1599Y	ABCA13_uc010kyr.2_Missense_Mutation_p.H1102Y|ABCA13_uc022acp.1_Missense_Mutation_p.H98Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1599					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCATTTATCACTTAGCTAG	0.343000														137			112		0	0	0.000781405	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740765	37740766	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:37740765_37740766CC>TT	uc004aag.1	+	14	2284_2285	c.2240_2241CC>TT	c.(2239-2241)ccc>cTT	p.P747L	FRMPD1_uc004aah.1_Missense_Mutation_p.P747L|FRMPD1_uc011lqm.2_Missense_Mutation_p.P569L|FRMPD1_uc011lqn.2_Missense_Mutation_p.P616L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	747						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGCCCAGCCCAGTTCCATGC	0.639000														6			5		0	0	6.4e-05	0	0
SOX18	54345	broad.mit.edu	37	20	62680639	62680639	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:62680639G>A	uc002yhs.3	-	0	341	c.231C>T	c.(229-231)cgC>cgT	p.R77R		NM_018419	NP_060889	P35713	SOX18_HUMAN	Homo sapiens SRY (sex determining region Y)-box 18 (SOX18), mRNA.	77					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCCGCCTGGCGTTCCCCGC	0.771000														10			5		0	0	0.000602214	0	0
ASNA1	439	broad.mit.edu	37	19	12858889	12858889	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:12858889G>A	uc002muv.3	+	6	1032	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	340					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CCTCCTCCTGGAGCCCTACAA	0.637000														16			12		0	0	0.00136819	0	0
HGF	3082	broad.mit.edu	37	7	81381541	81381541	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:81381541C>T	uc003uhl.3	-	4	685	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	HGF_uc003uhm.3_Missense_Mutation_p.E169K|HGF_uc003uhn.1_Missense_Mutation_p.E174K|HGF_uc003uho.1_Missense_Mutation_p.E169K|HGF_uc003uhp.3_Missense_Mutation_p.E174K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	174	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGTAGTTTTCCTGTAGGTCT	0.418000														36			21		0	0	0.000375601	0	0
IFI27L1	122509	broad.mit.edu	37	14	94568857	94568857	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:94568857C>T	uc001ycl.3	+	4	466	c.258C>T	c.(256-258)atC>atT	p.I86I	IFI27L1_uc001yck.3_Silent_p.I86I	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	Homo sapiens interferon, alpha-inducible protein 27-like 1 (IFI27L1), transcript variant 2, mRNA.	86						integral to membrane				lung(2)	2						CTAAAGTTATCGGGGGCTTTG	0.597000														11			17		0	0	0.000958276	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900681	151900681	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:151900681G>A	uc022chj.1	-	0	120	c.120C>T	c.(118-120)tcC>tcT	p.S40S	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.S40S|MAGEA12_uc022chi.1_Silent_p.S40S|MAGEA12_uc004fgc.3_Silent_p.S40S|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	40	Poly-Ser.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGGAGGAGGAGGCAGTCT	0.642000														5			22		0	0	0.000295444	0	0
MGAM	8972	broad.mit.edu	37	7	141747655	141747655	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:141747655G>A	uc003vwy.3	+	21	2623	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	857	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTTTCTGGGATAATGGGGA	0.448000														17			4		0	0	0.00116845	0	0
CASP3	836	broad.mit.edu	37	4	185552963	185552963	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:185552963G>A	uc003iwh.3	-	5	702	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	CASP3_uc003iwg.3_Missense_Mutation_p.R147C|CASP3_uc003iwi.3_Missense_Mutation_p.R147C	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	147					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTCTACAACGATCCCCTCTG	0.363000														70			25		0	0	0.000375601	0	0
FGD4	121512	broad.mit.edu	37	12	32755144	32755144	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:32755144C>T	uc010ske.2	+	6	1306	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F	FGD4_uc001rlc.3_Missense_Mutation_p.L381F|FGD4_uc001rky.3_Missense_Mutation_p.L48F|FGD4_uc001rkz.3_Missense_Mutation_p.L296F|FGD4_uc001rla.3_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	296					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.Y407N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGCACCATTCCTTAAGATGTA	0.328000														53			51		0	0	0.000781405	0	0
TSNAX	7257	broad.mit.edu	37	1	231673041	231673041	+	Silent	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:231673041A>G	uc001huw.3	+	2	362	c.204A>G	c.(202-204)aaA>aaG	p.K68K	DISC1_uc010pwe.2_5'UTR|DISC1_uc010pwf.2_5'UTR|DISC1_uc010pwj.1_5'UTR|DISC1_uc010pwk.1_5'UTR|DISC1_uc010pwg.1_5'UTR|DISC1_uc010pwh.1_5'UTR|DISC1_uc010pwi.1_Intron|DISC1_uc010pwl.2_Non-coding_Transcript	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	Homo sapiens translin-associated factor X (TSNAX), mRNA.	68					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TTGAAAGTAAAAGGACAATTT	0.333000														38			25		0	0	0.00127121	0	0
EPPK1	83481	broad.mit.edu	37	8	144943357	144943357	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:144943357G>A	uc003zaa.1	-	0	4078	c.4065C>T	c.(4063-4065)ctC>ctT	p.L1355L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1355						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACCTGCAGGAGGGGCAAGC	0.687000														9			9		0	0	0.000274275	0	0
DNAJA3	9093	broad.mit.edu	37	16	4494683	4494683	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:4494683C>T	uc002cwk.3	+	6	1027	c.950C>T	c.(949-951)aCc>aTc	p.T317I	DNAJA3_uc002cwl.3_Missense_Mutation_p.T317I|DNAJA3_uc010uxk.2_Missense_Mutation_p.T164I	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GATGGCCAGACCGTGAGGATG	0.572000														23			7		0	0	0.000157383	0	0
ATP1A3	478	broad.mit.edu	37	19	42482346	42482346	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:42482346G>A	uc002osh.3	-	12	1917	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	ATP1A3_uc010xwf.2_Missense_Mutation_p.A599V|ATP1A3_uc010xwg.2_Missense_Mutation_p.A558V|ATP1A3_uc002osg.3_Missense_Mutation_p.A588V|ATP1A3_uc010xwh.2_Missense_Mutation_p.A601V			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	588					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCAGGGACGGCTGCCCGGGG	0.642000														14			12		0	0	0.000219431	0	0
OR10J5	127385	broad.mit.edu	37	1	159505246	159505246	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:159505246C>T	uc010piw.2	-	0	552	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGAAAGTTTCATGACTGGGT	0.393000														54			17		0	0	0.00074312	0	0
SOX30	11063	broad.mit.edu	37	5	157065567	157065568	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:157065567_157065568GG>AA	uc003lxb.1	-	3	1892_1893	c.1550_1551CC>TT	c.(1549-1551)tcc>tTT	p.S517F	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.S212F	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	517					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCTGTTTGGGAAGGCCCAGT	0.540000														15			4		0	0	6.4e-05	0	0
MYLK	4638	broad.mit.edu	37	3	123419461	123419461	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:123419461C>T	uc003ego.3	-	17	3136	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	MYLK_uc011bjw.2_Missense_Mutation_p.D952N|MYLK_uc003egp.3_Missense_Mutation_p.D883N|MYLK_uc003egq.3_Missense_Mutation_p.D952N|MYLK_uc003egr.3_Missense_Mutation_p.D883N|MYLK_uc003egs.3_Missense_Mutation_p.D776N|MYLK_uc003egt.3_Missense_Mutation_p.D143N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	952	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGCGAAAATCGACCTGCTGG	0.597000														33			7		0	0	8.12818e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82583769	82583769	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:82583769G>A	uc003uhx.2	-	4	6789	c.6500C>T	c.(6499-6501)tCg>tTg	p.S2167L	PCLO_uc003uhv.2_Missense_Mutation_p.S2167L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2098					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAAGGCTCCGAGTAGGTCAA	0.413000														60			18		0	0	0.00188189	0	0
SAMD10	140700	broad.mit.edu	37	20	62608326	62608326	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:62608326G>A	uc002yhm.2	-	2	618	c.443C>T	c.(442-444)aCc>aTc	p.T148I	SAMD10_uc002yhn.2_Non-coding_Transcript	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN	Homo sapiens sterile alpha motif domain containing 10 (SAMD10), mRNA.	148	SAM.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CACTGTACCGGTGATGGCATG	0.587000														25			6		0	0	8.12818e-05	0	0
CATSPER2	117155	broad.mit.edu	37	15	43931985	43931985	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:43931985G>A	uc001zsh.3	-	5	788	c.573C>T	c.(571-573)ccC>ccT	p.P191P	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.P191P|CATSPER2_uc001zsj.3_Silent_p.P191P|CATSPER2_uc001zsk.3_3'UTR	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	191					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCACAACCTCGGGAAGCAGGG	0.498000														17			18		0	0	0.00127121	0	0
SNRNP200	23020	broad.mit.edu	37	2	96965144	96965144	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:96965144C>A	uc002svu.3	-	5	784	c.652G>T	c.(652-654)Ggg>Tgg	p.G218W		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	218						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGAACCTCCCCGTATACGTCT	0.527000														57			5		0.000602214	0.00366551	0.000602214	1	0
ATP7B	540	broad.mit.edu	37	13	52542601	52542601	+	Silent	SNP	G	A	A	rs138962570	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:52542601G>A	uc001vfw.2	-	3	1843	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	ATP7B_uc001vfy.2_Silent_p.S451S|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.S562S|ATP7B_uc010tgt.1_Silent_p.S562S|ATP7B_uc010tgu.1_Silent_p.S562S|ATP7B_uc010tgv.1_Silent_p.S562S|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	562					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGTTGCCATCGGAGCCTGCGT	0.502000									Wilson disease					12			7		0	0	0.000157383	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														34			4		0	0	0.00024832	0	0
ATG9A	79065	broad.mit.edu	37	2	220087135	220087135	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:220087135G>A	uc002vke.1	-	11	2072	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	ABCB6_uc010fwe.2_5'Flank|ABCB6_uc002vkc.2_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.S629F	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	629					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCGGCAGGATGAGCCAGC	0.617000														56			8		0	0	0.000673444	0	0
TFEC	22797	broad.mit.edu	37	7	115590988	115590988	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:115590988C>T	uc003vhj.2	-	5	708	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TFEC_uc003vhm.2_Missense_Mutation_p.R85K|TFEC_uc003vhk.2_Missense_Mutation_p.R123K|TFEC_uc003vhl.4_Missense_Mutation_p.R123K|TFEC_uc011kmw.2_Missense_Mutation_p.R242K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	152	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATATTATACCTTCTTCTTCT	0.274000														35			17		0	0	0.00074312	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891242	2891242	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:2891242G>A	uc002kln.3	+	3	1276	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	373					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGGGAGAAGGAAACAAGCCT	0.502000														37			19		0	0	0.000958276	0	0
GADL1	339896	broad.mit.edu	37	3	30875357	30875357	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:30875357C>T	uc003cep.2	-	10	1085	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	GADL1_uc003ceq.1_Silent_p.V346V	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	346					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATTTGTCTTTCACAAGGAGAG	0.493000														50			23		0	0	0.000295444	0	0
FAM117A	81558	broad.mit.edu	37	17	47788722	47788722	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:47788722C>T	uc002ipk.3	-	7	1326	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	FAM117A_uc010wlz.2_Silent_p.R147R	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	419	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CCGGATCCTTCCGAGGTGGTG	0.637000														30			5		0	0	0.00116845	0	0
TSSK2	23617	broad.mit.edu	37	22	19119841	19119841	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:19119841G>A	uc002zow.2	+	0	1521	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	310					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CCCGACCACCGGCCCGACCAC	0.642000														21			12		0	0	0.000978159	0	0
PPEF2	5470	broad.mit.edu	37	4	76788533	76788533	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:76788533C>T	uc003hix.3	-	13	2046	c.1689G>A	c.(1687-1689)agG>agA	p.R563R	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.R563R	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	563					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGCTTCTCCCTCAGAGCTC	0.408000														28			16		0	0	0.000958276	0	0
LRFN2	57497	broad.mit.edu	37	6	40400396	40400396	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:40400396C>T	uc003oph.1	-	1	922	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	153						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGTCCAGATCCTCCAATGTC	0.597000														34			18		0	0	0.00121646	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317117	30317117	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:30317117C>T	uc009xle.2	-	2	2097	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	KIAA1462_uc001iux.3_Missense_Mutation_p.E654K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E516K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	654										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCTGGTTCCCCTAGATCT	0.517000														40			7		0	0	8.12818e-05	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489270	74489270	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:74489270G>A	uc002sko.1	-	5	807	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.R269C|SLC4A5_uc010ffc.1_Missense_Mutation_p.R269C|SLC4A5_uc002skp.1_Missense_Mutation_p.R205C|SLC4A5_uc002sks.1_Missense_Mutation_p.R269C	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	269						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCACACAGACGTCCGTAATTT	0.602000														14			5		0	0	0.000602214	0	0
HCP5	10866	broad.mit.edu	37	6	31431476	31431476	+	RNA	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:31431476G>A	uc003ntl.3	+	1		c.429G>A			HCP5_uc021yup.1_5'Flank			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						gcacaggaacgaggccttggg	0.552000														44			16		0	0	0.00074312	0	0
GSX2	170825	broad.mit.edu	37	4	54966537	54966537	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:54966537C>A	uc010igp.1	+	0	290	c.26C>A	c.(25-27)tCg>tAg	p.S9*	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	9						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S9S(1)		endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TATGTCGACTCGCTCATCATC	0.647000														10			8		0.000274275	0.00167873	0.000274275	1	0
CLCN1	1180	broad.mit.edu	37	7	143039050	143039050	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:143039050C>T	uc003wcr.1	+	14	1698	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	CLCN1_uc011ktc.1_Silent_p.S149S	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	537					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGCCGTTTCCCACACAGTCT	0.527000														28			13		0	0	0.000219431	0	0
SLC12A3	6559	broad.mit.edu	37	16	56920313	56920313	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:56920313C>T	uc002ekd.4	+	15	1992	c.1963C>T	c.(1963-1965)Cgc>Tgc	p.R655C	SLC12A3_uc010ccm.3_Missense_Mutation_p.R655C|SLC12A3_uc010ccn.3_Missense_Mutation_p.R654C	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	655			R -> C (in GS).|R -> H (in GS).|R -> L (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCCCAACTTCCGCCCGGCCCT	0.672000														30			6		0	0	0.00116845	0	0
DAB1	1600	broad.mit.edu	37	1	57476912	57476912	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:57476912G>A	uc009vzx.1	-	12	1798	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	DAB1_uc001cyt.1_Missense_Mutation_p.S491F|DAB1_uc001cyq.1_Missense_Mutation_p.S491F|DAB1_uc001cyr.1_Missense_Mutation_p.S407F|DAB1_uc009vzw.1_Missense_Mutation_p.S475F|DAB1_uc001cys.1_Missense_Mutation_p.S493F	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	526					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGATGATTTGGATGGAGAGCT	0.478000														76			12		0	0	0.000219431	0	0
LCT	3938	broad.mit.edu	37	2	136570035	136570035	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:136570035C>T	uc002tuu.1	-	6	2210	c.2199G>A	c.(2197-2199)agG>agA	p.R733R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	733	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAACAGCCTCCTTATCCCCC	0.502000														39			11		0	0	0.000978159	0	0
LEPR	3953	broad.mit.edu	37	1	66062252	66062252	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:66062252G>A	uc001dci.3	+	6	1214	c.825G>A	c.(823-825)gaG>gaA	p.E275E	LEPR_uc001dcg.3_Silent_p.E275E|LEPR_uc001dch.3_Silent_p.E275E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.E275E|LEPR_uc001dcj.3_Silent_p.E275E|LEPR_uc001dck.3_Silent_p.E275E	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	275	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATTCAGAGAATTCTACAA	0.338000														20			25		0	0	0.000878237	0	0
PARVG	64098	broad.mit.edu	37	22	44579252	44579252	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:44579252G>A	uc011aqe.2	+	2	467	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	PARVG_uc010gzo.3_Missense_Mutation_p.G82R|PARVG_uc021wra.1_Missense_Mutation_p.G15R|PARVG_uc003bep.3_Missense_Mutation_p.G15R|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.G15R|PARVG_uc011aqf.2_Missense_Mutation_p.G15R|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	15					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GCTCCCCAAGGGGGTGGAGCC	0.647000														17			12		0	0	0.000219431	0	0
REG1A	5967	broad.mit.edu	37	2	79349161	79349161	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:79349161C>T	uc010ysd.2	+	2	298	c.231C>T	c.(229-231)acC>acT	p.T77T	REG1A_uc010ffx.1_3'UTR|REG1A_uc002snz.3_Silent_p.T77T	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	77	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTGTGCTCACCCAGGCCGAGG	0.517000														34			34		0	0	0.000692331	0	0
SDK2	54549	broad.mit.edu	37	17	71429938	71429938	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:71429938A>T	uc010dfm.3	-	9	1245	c.1245T>A	c.(1243-1245)gaT>gaA	p.D415E	SDK2_uc010dfn.2_Missense_Mutation_p.D94E	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	415	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGACATGCCATCGATCACCG	0.592000														4			5		0	0	0.000157383	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79056996	79056996	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:79056996G>A	uc002bej.4	-	19	4531	c.4320C>T	c.(4318-4320)tcC>tcT	p.S1440S		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1440	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CATCCCGGCCGGAGCTACAGC	0.716000														5			6		0	0	0.00116845	0	0
KRT12	3859	broad.mit.edu	37	17	39022420	39022420	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:39022420C>T	uc002hvk.2	-	1	661	c.637G>A	c.(637-639)Gac>Aac	p.D213N		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	213	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCCTGAAGTCCTCAGCAGCT	0.463000														42			8		0	0	0.000673444	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366339	80366339	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:80366339G>A	uc003kha.2	+	3	622	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.R19Q	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	191					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R191Q(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAAAGAACGAATGCGACCT	0.423000														67			15		0	0	0.000566183	0	0
FBLN7	129804	broad.mit.edu	37	2	112942804	112942804	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:112942804C>T	uc002tho.1	+	6	1106	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	FBLN7_uc010fki.1_Missense_Mutation_p.P233S|FBLN7_uc010fkj.1_Missense_Mutation_p.P145S	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	279	EGF-like 3; 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						GGGCCTGCAGCCGGTGTGCCC	0.577000														44			21		0	0	0.000375601	0	0
CCDC77	84318	broad.mit.edu	37	12	542408	542408	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:542408C>T	uc001qig.3	+	8	921	c.741C>T	c.(739-741)atC>atT	p.I247I	CCDC77_uc009zdk.3_Silent_p.I215I|CCDC77_uc010sdp.2_Silent_p.I215I|CCDC77_uc010sdq.2_Silent_p.I215I	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	247						centrosome		p.I247I(2)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGGGCTCATCGAGGACAGAC	0.468000														33			34		0	0	0.00058488	0	0
LSR	51599	broad.mit.edu	37	19	35741251	35741251	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35741251A>G	uc002nyl.3	+	1	510	c.287A>G	c.(286-288)aAc>aGc	p.N96S	LSR_uc010xsr.2_Missense_Mutation_p.N96S|LSR_uc002nym.3_Missense_Mutation_p.N96S|LSR_uc002nyn.3_Missense_Mutation_p.N96S|LSR_uc002nyo.3_Missense_Mutation_p.N96S|LSR_uc002nyp.3_Missense_Mutation_p.N59S	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	96	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCGTGTCCAACCCCTACCAC	0.597000														145			30		0	0	0.00195071	0	0
C10orf12	26148	broad.mit.edu	37	10	98744728	98744728	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:98744728C>T	uc001kmv.3	+	0	3688	c.3581C>T	c.(3580-3582)tCt>tTt	p.S1194F		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	1194										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGTGAATCCTCTTCAAGGCCT	0.502000														25			5		0	0	0.00116845	0	0
MPP7	143098	broad.mit.edu	37	10	28378684	28378684	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:28378684C>T	uc001iua.1	-	13	1443	c.1039G>A	c.(1039-1041)Gac>Aac	p.D347N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D347N|MPP7_uc009xla.2_Missense_Mutation_p.D347N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	347					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCAGCTGTGTCGTACTGATCA	0.368000														72			27		0	0	0.00127121	0	0
ZNF143	7702	broad.mit.edu	37	11	9519279	9519279	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:9519279C>T	uc001mhr.3	+	9	1018	c.899C>T	c.(898-900)tCg>tTg	p.S300L	ZNF143_uc009yfu.3_Missense_Mutation_p.S299L|ZNF143_uc010rby.2_Missense_Mutation_p.S269L	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	300					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TATCGGTGTTCGGAAGATAAT	0.323000														15			18		0	0	0.00152264	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186851	47186851	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:47186851C>T	uc001rpi.2	-	2	403	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SLC38A4_uc001rpj.2_Missense_Mutation_p.D2N|SLC38A4_uc009zkl.2_Missense_Mutation_p.D2N	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	2					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCCATGGGATCCATTTGAGCT	0.433000														28			33		0	0	0.000953801	0	0
KCNK9	51305	broad.mit.edu	37	8	140630623	140630623	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:140630623C>T	uc003yvf.1	-	1	1067	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	KCNK9_uc003yvg.1_Missense_Mutation_p.E335K|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	335						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.I334I(2)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GAGATCTCCTCGATCTTGTAA	0.552000														47			25		0	0	0.000878237	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48760138	48760138	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:48760138A>C	uc002xvf.3	-	1	303	c.142T>G	c.(142-144)Tgc>Ggc	p.C48G	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Missense_Mutation_p.C48G|TMEM189-UBE2V1_uc010gif.2_Missense_Mutation_p.C48G	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	48						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			ATCACAGAGCACCACTCCTGG	0.607000														120			10		0	0	0.000673444	0	0
NR3C2	4306	broad.mit.edu	37	4	149357508	149357508	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:149357508C>T	uc003ilj.4	-	1	868	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	NR3C2_uc003ilk.4_Missense_Mutation_p.G169R|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	169	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ACGGAGCTCCCAGAGTCAGAC	0.478000														70			41		0	0	0.000680045	0	0
NEB	4703	broad.mit.edu	37	2	152422239	152422239	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:152422239C>T	uc021vrb.1	-	85	13178	c.13149G>A	c.(13147-13149)atG>atA	p.M4383I	NEB_uc002txr.3_Missense_Mutation_p.M849I|NEB_uc002txu.3_Missense_Mutation_p.M6084I|NEB_uc021vrc.1_Missense_Mutation_p.M6084I|NEB_uc010fnx.3_Missense_Mutation_p.M4371I|NEB_uc021vrd.1_Missense_Mutation_p.M4383I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4383					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGACTCATCATTTCCTGGT	0.498000														7			5		0	0	0.00116845	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021119	51021119	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:51021119G>A	uc002pss.3	-	2	1988	c.1851C>T	c.(1849-1851)atC>atT	p.I617I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	617						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCACGTTGATGATCTCCACGG	0.706000														16			9		0	0	0.000673444	0	0
UNC5B	219699	broad.mit.edu	37	10	73046583	73046583	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:73046583C>T	uc001jro.3	+	4	1141	c.690C>T	c.(688-690)atC>atT	p.I230I	UNC5B_uc001jrp.3_Silent_p.I230I	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	230	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAAGAACATCGTGGCCAAAC	0.637000														55			25		0	0	0.00178596	0	0
MIA3	375056	broad.mit.edu	37	1	222806471	222806471	+	Silent	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:222806471T>C	uc001hnl.3	+	5	3366	c.3357T>C	c.(3355-3357)ccT>ccC	p.P1119P	MIA3_uc009xea.1_Silent_p.P955P	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1119					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.P1119H(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGACACTCCTATGGATGCTA	0.398000														581			40		0	0	0.00128727	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995465	57995465	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:57995465A>G	uc010rkd.2	-	0	926	c.883T>C	c.(883-885)Tac>Cac	p.Y295H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CTAAGGCTGTAAAGCAAAGGG	0.552000														29			38		0	0	0.000953801	0	0
TLR9	54106	broad.mit.edu	37	3	52256890	52256890	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:52256890C>T	uc003ddb.3	-	4	1943	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	TLR9_uc003dda.2_Missense_Mutation_p.R481Q	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	481					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.R481L(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAGGTTGTTCCGTGACAGATC	0.617000														33			31		0	0	0.000339439	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147044	52147044	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:52147044G>A	uc002pxf.4	-	4	1120	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	334					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGCACAGAAAGGATGAAGGAC	0.587000														34			17		0	0	0.00074312	0	0
TREH	11181	broad.mit.edu	37	11	118529397	118529397	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:118529397C>T	uc001pty.1	-	13	1636	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	TREH_uc009zaj.1_Missense_Mutation_p.E500K|TREH_uc001ptz.1_Missense_Mutation_p.E408K	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	531					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ACCTGAACTTCATATTCTCCT	0.627000														0			4		0	0	0.000602214	0	0
MDN1	23195	broad.mit.edu	37	6	90390347	90390347	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:90390347G>A	uc003pnn.1	-	73	12342	c.12226C>T	c.(12226-12228)Ccc>Tcc	p.P4076S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4076					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CGAGGCAGGGGGCTCTCCTTC	0.597000														9			11		0	0	0.00185496	0	0
ZNF397	84307	broad.mit.edu	37	18	32825358	32825358	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:32825358C>T	uc010dmp.3	+	3	849	c.689C>T	c.(688-690)aCa>aTa	p.T230I	ZNF397_uc002kyj.3_Intron|ZNF397_uc010dmq.3_Intron|ZNF397_uc010dmr.3_Intron	NM_001135178	NP_001128650	Q8NF99	ZN397_HUMAN	Homo sapiens zinc finger protein 397 (ZNF397), transcript variant 1, mRNA.	230					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GGAAGTGCTACAGGGGAGAAA	0.438000														6			7		0	0	8.12818e-05	0	0
C7orf58	79974	broad.mit.edu	37	7	120907287	120907287	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:120907287C>T	uc003vjq.4	+	20	3099	c.2652C>T	c.(2650-2652)atC>atT	p.I884I		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	884						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TACTCAATATCCTAGTGATCA	0.318000														21			4		0	0	0.000602214	0	0
CYTIP	9595	broad.mit.edu	37	2	158272256	158272256	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:158272256C>T	uc002tzj.1	-	7	1085	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	CYTIP_uc010zcl.1_Missense_Mutation_p.R232Q	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	338					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAGTTGCTTTCGGACACTTCC	0.483000														28			26		0	0	0.00178596	0	0
MRAP2	112609	broad.mit.edu	37	6	84765131	84765131	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:84765131C>T	uc003pkg.4	+	1	284	c.94C>T	c.(94-96)Cca>Tca	p.P32S	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	32					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAGATTGGACCAGTTTCCTT	0.393000														21			17		0	0	0.000958276	0	0
FAM190A	401145	broad.mit.edu	37	4	91229571	91229571	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:91229571C>T	uc003hsv.4	+	1	476	c.136C>T	c.(136-138)Cct>Tct	p.P46S	FAM190A_uc003hsu.3_Missense_Mutation_p.P46S|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.P46S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	46	Ser-rich.									NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CAGTTCCTCTCCTTCCAGCAC	0.458000														45			16		0	0	0.000958276	0	0
MTTP	4547	broad.mit.edu	37	4	100503146	100503146	+	Missense_Mutation	SNP	G	A	A	rs145545828	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:100503146G>A	uc011cej.2	+	1	240	c.227G>A	c.(226-228)gGa>gAa	p.G76E	MTTP_uc003hvc.4_Missense_Mutation_p.G49E|MTTP_uc003hvb.3_Missense_Mutation_p.G49E	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	49	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.G49V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CGGGGCAAAGGAAAACTGCAA	0.463000														60			39		0	0	0.000953801	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613792	14613792	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:14613792C>T	uc001rbw.3	+	8	2680	c.2522C>T	c.(2521-2523)cCc>cTc	p.P841L	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Missense_Mutation_p.P841L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P840L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P840L|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Missense_Mutation_p.P841L|ATF7IP_uc001rca.3_Missense_Mutation_p.P841L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	841					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGCCAAATCCCACTAAACCA	0.468000														39			33		0	0	0.000953801	0	0
METTL10	399818	broad.mit.edu	37	10	126454046	126454046	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:126454046G>A	uc001lhy.1	-	4	568	c.531C>T	c.(529-531)ctC>ctT	p.L177L	FAM53B_uc001lhu.1_5'UTR|METTL10_uc001lhz.1_Silent_p.L89L|METTL10_uc001lia.1_Silent_p.L89L|Y_RNA_uc021qam.1_5'Flank	NM_212554	NP_997719	Q5JPI9	MTL10_HUMAN	Homo sapiens methyltransferase like 10 (METTL10), mRNA.	177							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		ACACCCTGGAGAGAGATTTCA	0.363000														63			21		0	0	0.00152264	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529570	55529570	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:55529570C>T	uc001xbq.1	+	2	417	c.253C>T	c.(253-255)Cca>Tca	p.P85S		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	85	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TCCAGGACCCCCAGCACCCTT	0.627000														9			7		0	0	8.12818e-05	0	0
ZNF560	147741	broad.mit.edu	37	19	9585962	9585962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:9585962G>A	uc002mlp.1	-	2	238	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	ZNF560_uc010dwr.1_5'UTR	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTGCATACCTGATAACAATTT	0.408000														16			10		0	0	0.00136819	0	0
ABCA13	154664	broad.mit.edu	37	7	48547545	48547545	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:48547545G>A	uc003toq.2	+	49	13448	c.13424G>A	c.(13423-13425)aGc>aAc	p.S4475N	ABCA13_uc010kys.1_Missense_Mutation_p.S1550N|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.S205N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4475					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCATCGGCAGCTCTGTGGTG	0.552000														24			5		0	0	0.000602214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208509	140208509	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140208509C>T	uc003lho.2	+	0	860	c.833C>T	c.(832-834)tCa>tTa	p.S278L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.S278L|PCDHAC2_uc011dab.2_Missense_Mutation_p.S278L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	293	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S278L(2)		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)			GGGGCAATTTCATATTCTTTT	0.388000														73			15		0	0	0.000422831	0	0
BAZ2B	29994	broad.mit.edu	37	2	160193466	160193466	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:160193466G>A	uc002uao.3	-	32	6188	c.5783C>T	c.(5782-5784)tCa>tTa	p.S1928L	BAZ2B_uc002uap.3_Missense_Mutation_p.S1892L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCATAATTGATTTTTCCCA	0.358000														42			9		0	0	0.000274275	0	0
RNF216	54476	broad.mit.edu	37	7	5780816	5780816	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:5780816C>T	uc003sox.2	-	3	1091	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_Intron|RNF216_uc003soy.2_Missense_Mutation_p.E221K|RNF216_uc011jwj.2_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	221					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCTGGGGTTCCGGCCTTGGA	0.547000														53			17		0	0	0.000958276	0	0
DPYSL2	1808	broad.mit.edu	37	8	26505265	26505265	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:26505265C>T	uc003xfb.2	+	10	1661	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	DPYSL2_uc003xfa.3_Silent_p.V515V|DPYSL2_uc011lah.2_Silent_p.V374V	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	410					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CCGACCTGGTCATCTGGGACC	0.527000														41			23		0	0	0.000586117	0	0
LARP1	23367	broad.mit.edu	37	5	154185511	154185511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:154185511C>T	uc003lvo.3	+	14	2410	c.2386C>T	c.(2386-2388)Cag>Tag	p.Q796*	LARP1_uc021ygh.1_Nonsense_Mutation_p.Q668*	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	873							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCCAAGTTCCAGCATCCTTC	0.507000														84			26		0	0	0.000878237	0	0
VPS13D	55187	broad.mit.edu	37	1	12368617	12368617	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:12368617C>T	uc001atv.3	+	26	6710	c.6569C>T	c.(6568-6570)tCc>tTc	p.S2190F	VPS13D_uc001atw.3_Missense_Mutation_p.S2190F|VPS13D_uc001atx.3_Missense_Mutation_p.S1378F|VPS13D_uc001aty.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2190					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATCTTCCCTTCCTATTTTGTG	0.463000														108			28		0	0	0.000409698	0	0
GPR31	2853	broad.mit.edu	37	6	167570453	167570453	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:167570453G>A	uc011egq.2	-	0	867	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	289						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGAGCTCCTGAAGGTGGGGC	0.592000														29			17		0	0	0.000566183	0	0
DUSP8	1850	broad.mit.edu	37	11	1578618	1578618	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:1578618G>A	uc001lts.2	-	6	1136	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	336	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTCTCTGAGGTAGGTGGTG	0.801000														11			12		0	0	0.000422831	0	0
NLRP8	126205	broad.mit.edu	37	19	56459306	56459306	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:56459306C>T	uc002qmh.3	+	0	109	c.38C>T	c.(37-39)cCc>cTc	p.P13L	NLRP8_uc010etg.3_Missense_Mutation_p.P13L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	13						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCCCCATTCCCTTTTCATCC	0.498000														72			41		0	0	0.000781405	0	0
ABCA12	26154	broad.mit.edu	37	2	215910672	215910672	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:215910672G>A	uc002vew.3	-	6	981	c.761C>T	c.(760-762)tCa>tTa	p.S254L	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	254					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCACTTGTGAGAAGAAAGA	0.383000														36			20		0	0	0.00188189	0	0
TMEM145	284339	broad.mit.edu	37	19	42818469	42818469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:42818469C>T	uc002otk.1	+	1	218	c.166C>T	c.(166-168)Cga>Tga	p.R56*		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	56						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGATTACGGCCGACTGGACTT	0.567000														66			16		0	0	0.000566183	0	0
AKAP7	9465	broad.mit.edu	37	6	131520642	131520642	+	Missense_Mutation	SNP	G	A	A	rs34221901	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:131520642G>A	uc003qck.3	+	5	709	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CATCCTGGTAGGAGAGAGCAG	0.373000														9			15		0	0	0.000958276	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533586	29533586	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:29533586C>T	uc011akm.1	+	5	941	c.888C>T	c.(886-888)gtC>gtT	p.V296V	KREMEN1_uc003ael.3_Silent_p.V296V|KREMEN1_uc011akn.2_Silent_p.V179V	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	294	CUB.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTTCAACGTCTCTCTGGACT	0.547000														30			15		0	0	0.000422831	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537261	140537261	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140537261C>T	uc003lis.3	+	0	1682	c.1682C>T	c.(1681-1683)tCg>tTg	p.S561L						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		ACTCGCCCTTCGTGCTGTACC	0.711000														18			19		0	0	0.000375601	0	0
KLHL1	57626	broad.mit.edu	37	13	70314530	70314530	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:70314530C>T	uc001vip.3	-	7	2592	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	KLHL1_uc010thm.2_Missense_Mutation_p.G539S	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	600					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.N599N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACTTACTTGCCATTCAATGCT	0.318000														17			15		0	0	0.000219431	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526075	68526075	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:68526075C>T	uc009xpn.1	-	8	1351	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E410K|CTNNA3_uc001jmx.4_Missense_Mutation_p.E410K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	410					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTTTTATTTCCTTTTCCCGG	0.443000														52			33		0	0	0.000409698	0	0
RANBP2	5903	broad.mit.edu	37	2	109382770	109382770	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:109382770G>A	uc002tem.4	+	19	5901	c.5775G>A	c.(5773-5775)caG>caA	p.Q1925Q		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1925					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCCAGGCTCAGGATATTAGTG	0.413000														180			116		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181133	140181133	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140181133C>T	uc003lhf.2	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F117F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	132	Cadherin 1.				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)			TGCAGGTTTTCCATGTGGAGG	0.537000														94			30		0	0	0.001512	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750382	140750382	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140750382G>A	uc003ljw.2	+	0	421	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	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_uc011dat.2_Missense_Mutation_p.E141K	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	141	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGAGCTGGAAATCAGCGA	0.468000														75			54		0	0	0.000781405	0	0
DNAJC18	202052	broad.mit.edu	37	5	138761999	138761999	+	Missense_Mutation	SNP	G	A	A	rs143797552		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:138761999G>A	uc003len.3	-	3	501	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	DNAJC18_uc010jff.3_Intron	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	141	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATAGCGAAGTCTCTTA	0.448000														57			11		0	0	0.000219431	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769601	15769601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:15769601C>T	uc010xok.2	+	11	1429	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	CYP4F3_uc010xol.2_Missense_Mutation_p.P460L|CYP4F3_uc002nbj.3_Missense_Mutation_p.P460L|CYP4F3_uc010xom.2_Missense_Mutation_p.P311L|CYP4F3_uc002nbk.3_Missense_Mutation_p.P460L|CYP4F3_uc010xon.2_Missense_Mutation_p.P170L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	460					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTTTTATTCCCTTCTCAGCA	0.582000														65			9		0	0	0.000978159	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604058	111604058	+	Silent	SNP	G	A	A	rs145708919	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:111604058G>A	uc010hqa.3	+	1	1545	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	PHLDB2_uc003dyc.3_Silent_p.A405A|PHLDB2_uc003dyd.3_Silent_p.A378A|PHLDB2_uc003dyg.3_Silent_p.A378A|PHLDB2_uc003dyh.3_Silent_p.A378A|PHLDB2_uc003dye.4_Silent_p.A378A|PHLDB2_uc003dyf.4_Silent_p.A378A	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	378						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGTTTTTGCGACCAGGAGGA	0.527000														36			22		0	0	0.000878237	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:121761086G>A	uc003ksw.1	+	4	1248	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E348K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E395K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E42K|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.D347H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000														95			21		0	0	0.000586117	0	0
PODN	127435	broad.mit.edu	37	1	53544457	53544457	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:53544457C>T	uc001cuv.3	+	7	1587	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	PODN_uc010onr.2_Silent_p.A454A|PODN_uc010ons.2_Silent_p.A331A|PODN_uc001cuw.3_Silent_p.A454A	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	425					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCGCGACGCCTTCCGCAAGC	0.637000														23			15		0	0	0.000219431	0	0
OSGIN2	734	broad.mit.edu	37	8	90937327	90937327	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:90937327C>A	uc003yeh.3	+	5	1477	c.1217C>A	c.(1216-1218)aCt>aAt	p.T406N	OSGIN2_uc003yeg.3_Missense_Mutation_p.T362N	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	362					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATGATGTGTACTCAGTCATAT	0.383000														83			57		9.86064e-34	6.09181e-33	0.000781405	1	0
NLRP2	55655	broad.mit.edu	37	19	55494681	55494681	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:55494681C>T	uc021vbq.1	+	5	1726	c.1615C>T	c.(1615-1617)Ctt>Ttt	p.L539F	NLRP2_uc010yfp.2_Missense_Mutation_p.L516F|NLRP2_uc002qij.3_Missense_Mutation_p.L539F|NLRP2_uc010esp.3_Missense_Mutation_p.L517F|NLRP2_uc010esn.3_Missense_Mutation_p.L515F|NLRP2_uc010eso.3_Missense_Mutation_p.L536F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	539					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACAGAAGCTGCTTTCCGGAGT	0.562000														25			21		0	0	0.00188189	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713587	70713587	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:70713587C>T	uc010ttg.2	-	0	932	c.281G>A	c.(280-282)gGa>gAa	p.G94E						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		GAAAACATTTCCTTGATTCCA	0.378000														24			20		0	0	0.000958276	0	0
LOC494141	494141	broad.mit.edu	37	11	18232101	18232101	+	RNA	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:18232101G>A	uc009yhh.3	+	1		c.1125G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AAGGTTATATGAAAAAAAACA	0.383000														9			9		0	0	0.000978159	0	0
TPTE	7179	broad.mit.edu	37	21	10971323	10971323	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:10971323C>T	uc002yip.1	-	4	402	c.34G>A	c.(34-36)Gga>Aga	p.G12R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G12R|TPTE_uc002yir.1_Missense_Mutation_p.G12R|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	12					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A11V(1)|p.A11A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGATGACTCCCGCCAGGTCA	0.448000														51			10		0	0	0.00185496	0	0
DTNA	1837	broad.mit.edu	37	18	32391985	32391985	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:32391985C>T	uc010dmn.1	+	4	512	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	DTNA_uc002kxu.2_Missense_Mutation_p.L171F|DTNA_uc010xbx.2_Missense_Mutation_p.L171F|DTNA_uc002kxv.4_Missense_Mutation_p.L171F|DTNA_uc002kxw.2_Missense_Mutation_p.L171F|DTNA_uc002kxx.2_Missense_Mutation_p.L171F|DTNA_uc002kxz.2_Missense_Mutation_p.L171F|DTNA_uc002kxy.2_Missense_Mutation_p.L171F|DTNA_uc010dmj.3_Missense_Mutation_p.L171F|DTNA_uc002kyb.4_Missense_Mutation_p.L171F|DTNA_uc010dml.3_Missense_Mutation_p.L171F|DTNA_uc010dmm.3_Missense_Mutation_p.L171F	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	171	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGACCAATTCCTTCGGGAAGT	0.418000														39			20		0	0	0.000295444	0	0
NLRP13	126204	broad.mit.edu	37	19	56416401	56416401	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:56416401C>G	uc010ygg.2	-	7	2550	c.2525G>C	c.(2524-2526)cGa>cCa	p.R842P		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	842							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGGCACAATCGAGTTACGTG	0.522000														26			16		0	0	0.000958276	0	0
CHL1	10752	broad.mit.edu	37	3	432728	432728	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:432728G>A	uc003bot.3	+	21	3319	c.2677G>A	c.(2677-2679)Gga>Aga	p.G893R	CHL1_uc003bou.3_Missense_Mutation_p.G877R|CHL1_uc003bow.2_Missense_Mutation_p.G877R|CHL1_uc011asi.2_Missense_Mutation_p.G893R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	877	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGAAACTCTGGAATGGTTCC	0.363000														25			15		0	0	0.000308642	0	0
EXD1	161829	broad.mit.edu	37	15	41483766	41483766	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:41483766C>T	uc010ucv.2	-	9	1010	c.738G>A	c.(736-738)caG>caA	p.Q246Q	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Silent_p.Q188Q	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	188					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCATGGAAAACTGAAGTACAT	0.378000														16			16		0	0	0.00188189	0	0
PPP6C	5537	broad.mit.edu	37	9	127912094	127912094	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:127912094G>A	uc010mwv.3	-	7	1108	c.887C>T	c.(886-888)cCt>cTt	p.P296L	PPP6C_uc004bpg.4_Missense_Mutation_p.P259L|PPP6C_uc010mww.3_Missense_Mutation_p.P237L|PPP6C_uc011lzr.2_Missense_Mutation_p.P112L	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	259					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCAGTAATTAGGAGCAGACCA	0.388000														16			24		0	0	0.00047179	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347054	95347054	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:95347054G>A	uc010qnt.2	+	3	878	c.822G>A	c.(820-822)caG>caA	p.Q274Q	O3FAR1_uc010qnu.2_Silent_p.Q258Q	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	274				Q -> H (in Ref. 2; BAD83368).	negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TGTCCCAGCAGGACTTCCGGC	0.547000														40			10		0	0	0.000673444	0	0
FAM129B	64855	broad.mit.edu	37	9	130279240	130279240	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:130279240A>C	uc004brh.3	-	7	1071	c.869T>G	c.(868-870)gTg>gGg	p.V290G	FAM129B_uc004bri.3_Missense_Mutation_p.V277G|FAM129B_uc004brj.4_Missense_Mutation_p.V290G	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	290							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTTGGACAGCACCTCCTCGAA	0.607000														49			64		0	0	0.000781405	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368401	86368401	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:86368401G>A	uc001vll.1	-	1	2702	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	SLITRK6_uc021rla.1_Missense_Mutation_p.S748F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	748						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTTGGAAGGATAAAAATTC	0.368000														168			54		0	0	0.000781405	0	0
GORAB	92344	broad.mit.edu	37	1	170521409	170521409	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:170521409C>T	uc001gha.2	+	4	1018	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	GORAB_uc009wvx.2_Missense_Mutation_p.R151C|GORAB_uc001ghb.2_Missense_Mutation_p.R151C|GORAB_uc001ghc.2_Missense_Mutation_p.R151C|GORAB_uc001ghd.2_Missense_Mutation_p.R124C	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	331	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus		p.R331C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCAGTGGTTCGTTTAGAGAG	0.453000														70			49		0	0	0.000781405	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062506	20062506	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:20062506G>A	uc010nfo.2	-	6	972	c.855C>T	c.(853-855)gcC>gcT	p.A285A	MAP7D2_uc004czq.2_Silent_p.A129A|MAP7D2_uc011mji.2_Silent_p.A192A|MAP7D2_uc004czr.2_Silent_p.A244A|MAP7D2_uc011mjj.2_Silent_p.A199A	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	244										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCCTGAAAGGGCTTCTTTCC	0.468000														17			43		0	0	0.000781405	0	0
SCAND3	114821	broad.mit.edu	37	6	28540105	28540105	+	Silent	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:28540105T>C	uc003nlo.3	-	3	4179	c.3561A>G	c.(3559-3561)gaA>gaG	p.E1187E		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1187					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						attcaaaacattctaacaaat	0.279000														9			10		0	0	0.000442599	0	0
RYR2	6262	broad.mit.edu	37	1	237969462	237969462	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:237969462T>C	uc001hyl.1	+	98	14297	c.14177T>C	c.(14176-14178)aTg>aCg	p.M4726T	RYR2_uc010pyb.1_Missense_Mutation_p.M159T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4726					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGGTATATGACTATGTCT	0.398000														65			13		0	0	0.00185496	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298587	79298587	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:79298587G>A	uc002beq.3	-	14	2430	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	RASGRF1_uc002bep.3_Silent_p.I672I|RASGRF1_uc010blm.1_Silent_p.I594I|RASGRF1_uc002ber.4_Silent_p.I672I|RASGRF1_uc010unh.1_Silent_p.I80I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	685	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCAGGACCACGATGGCGGTGG	0.602000														24			24		0	0	0.000586117	0	0
SRM	6723	broad.mit.edu	37	1	11115859	11115859	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:11115859G>A	uc001arz.1	-	5	835	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	248					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TGCACAGCATGAAGCCGATCT	0.637000														3			4		0	0	0.00024832	0	0
MCTP2	55784	broad.mit.edu	37	15	95013671	95013671	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:95013671G>A	uc002btj.3	+	20	2535	c.2470_splice	c.e20+1	p.G824_splice	MCTP2_uc010boj.3_Splice_Site_p.G553_splice|MCTP2_uc010bok.3_Splice_Site_p.G769_splice|MCTP2_uc002btl.3_Splice_Site_p.G412_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	824					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAATCTGGGGTAAGTTTGG	0.408000														32			34		0	0	0.00058488	0	0
FSCN3	29999	broad.mit.edu	37	7	127235784	127235784	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:127235784C>T	uc003vmd.2	+	1	787	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	FSCN3_uc003vmc.1_Missense_Mutation_p.H145Y|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_Missense_Mutation_p.H56Y|FSCN3_uc010llc.2_Missense_Mutation_p.H190Y	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	190						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGATGCTACCACCTGGAGAC	0.587000														35			29		0	0	0.000409698	0	0
LGR5	8549	broad.mit.edu	37	12	71946885	71946885	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:71946885C>T	uc001swl.3	+	4	509	c.461C>T	c.(460-462)cCc>cTc	p.P154L	LGR5_uc001swm.3_Missense_Mutation_p.P154L|LGR5_uc021rar.1_Intron|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	154						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCTATGTGCCCCCAAGCTGT	0.498000														63			79		0	0	0.000781405	0	0
TNRC6B	23112	broad.mit.edu	37	22	40718916	40718916	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:40718916C>G	uc011aor.2	+	22	5384	c.5173C>G	c.(5173-5175)Cgc>Ggc	p.R1725G	TNRC6B_uc003aym.3_Missense_Mutation_p.R921G|TNRC6B_uc003ayn.4_Missense_Mutation_p.R1615G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1725					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TGAAGTCAGCCGCTTTCTGGC	0.567000														11			6		0	0	8.12818e-05	0	0
XIRP1	165904	broad.mit.edu	37	3	39229856	39229856	+	Missense_Mutation	SNP	C	T	T	rs145094629	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:39229856C>T	uc003cjk.2	-	1	1310	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	XIRP1_uc003cji.3_Missense_Mutation_p.E361K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E361K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	361							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGCCTCTTCGTCCCCCTTC	0.587000														59			39		0	0	0.000437636	0	0
GPR152	390212	broad.mit.edu	37	11	67219543	67219543	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:67219543G>A	uc001olm.3	-	0	658	c.653C>T	c.(652-654)aCa>aTa	p.T218I	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	218						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCGACAGGCTGTGGCCTGGGT	0.667000														17			15		0	0	0.00074312	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239571	1239571	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:1239571A>T	uc003jby.2	+	5	862	c.739A>T	c.(739-741)Att>Ttt	p.I247F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	247					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAGATGCACATTCTCCAGAA	0.562000														53			15		0	0	0.00074312	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730862	140730862	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140730862C>T	uc003ljo.2	+	0	1035	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F345F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	352	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGACATTCATGTCCTTCT	0.443000														20			8		0	0	0.000157383	0	0
FRMPD1	22844	broad.mit.edu	37	9	37719095	37719095	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:37719095G>A	uc004aag.1	+	5	482	c.438G>A	c.(436-438)gaG>gaA	p.E146E	FRMPD1_uc004aah.1_Silent_p.E146E|FRMPD1_uc011lqm.2_5'UTR|FRMPD1_uc011lqn.2_Silent_p.E15E	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	146						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCTGACCGAGGAGAAGAGAG	0.463000														15			16		0	0	0.00074312	0	0
RNF175	285533	broad.mit.edu	37	4	154649400	154649400	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:154649400G>A	uc003int.3	-	3	733	c.360C>T	c.(358-360)ctC>ctT	p.L120L	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	120						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TAGCTCTGAAGAGGATGTAAC	0.438000														40			22		0	0	0.000375601	0	0
ITGA1	3672	broad.mit.edu	37	5	52216260	52216260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:52216260C>T	uc003jou.3	+	16	2668	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Nonsense_Mutation_p.R283*	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	752					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CATCACAGTTCGAAAATCAGA	0.378000														30			15		0	0	0.000308642	0	0
AOX1	316	broad.mit.edu	37	2	201507515	201507515	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:201507515C>T	uc002uvx.3	+	24	2939	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	AOX1_uc010zhf.2_Silent_p.S502S|AOX1_uc010fsu.3_Silent_p.S312S	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	946					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGGACTATCCCCTGAGAAGG	0.488000														33			20		0	0	0.00188189	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84705531	84705531	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:84705531C>T	uc002bjz.4	+	28	4985	c.4761C>T	c.(4759-4761)acC>acT	p.T1587T		NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1587						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAGACCCACCTTAAGAAGGA	0.478000														9			5		0	0	0.00116845	0	0
DSC2	1824	broad.mit.edu	37	18	28648157	28648157	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:28648157C>T	uc002kwl.4	-	15	2984	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	844					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGATTTTCATCTTGATTACAC	0.358000														43			24		0	0	0.00178596	0	0
AGL	178	broad.mit.edu	37	1	100345591	100345591	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:100345591C>T	uc001dsi.1	+	12	2124	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	AGL_uc001dsj.1_Missense_Mutation_p.S575F|AGL_uc001dsk.1_Missense_Mutation_p.S575F|AGL_uc001dsl.1_Missense_Mutation_p.S575F|AGL_uc001dsm.1_Missense_Mutation_p.S559F|AGL_uc001dsn.1_Missense_Mutation_p.S558F	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	575					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGCATTAGTTCCTTAATAAGA	0.358000														109			23		0	0	0.000878237	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80915340	80915340	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:80915340G>A	uc002kgg.1	-	8	770	c.756C>T	c.(754-756)ttC>ttT	p.F252F	B3GNTL1_uc002kgf.1_Silent_p.F141F|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	252							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCTCTTCCAGGAAGCGGACGC	0.672000														11			8		0	0	0.000157383	0	0
ADH1B	125	broad.mit.edu	37	4	100235150	100235150	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:100235150C>T	uc003hus.4	-	5	740	c.656G>A	c.(655-657)aGa>aAa	p.R219K	ADH1B_uc003hut.4_Missense_Mutation_p.R179K|ADH1B_uc011ceh.2_Missense_Mutation_p.R64K|ADH1B_uc011cei.1_Missense_Mutation_p.R179K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	219					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CGCAATGATTCTGGCTGCTCC	0.517000														173			77		0	0	0.000781405	0	0
HVCN1	84329	broad.mit.edu	37	12	111088039	111088040	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:111088039_111088040CC>TT	uc001trs.1	-	6	854_855	c.689_690GG>AA	c.(688-690)agg>aAA	p.R230K	HVCN1_uc001trq.1_Missense_Mutation_p.R230K|HVCN1_uc001trt.1_Missense_Mutation_p.R230K|HVCN1_uc010syd.1_Missense_Mutation_p.R210K	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	230					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTGTTTTAACCTTAAGAGTTG	0.441000														16			16		0	0	6.4e-05	0	0
RELN	5649	broad.mit.edu	37	7	103207091	103207091	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:103207091C>T	uc022ajr.1	-	31	4864	c.4704G>A	c.(4702-4704)gcG>gcA	p.A1568A	RELN_uc022ajq.1_Silent_p.A1568A|RELN_uc010liz.3_Silent_p.A1568A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1568					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A1568T(1)|p.A1568V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGTGTCTTCGCGTCCTGTG	0.473000														47			8		0	0	0.000157383	0	0
TLR5	7100	broad.mit.edu	37	1	223285632	223285632	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:223285632T>C	uc021pjl.1	-	0	742	c.742A>G	c.(742-744)Aat>Gat	p.N248D	TLR5_uc001hnv.2_Missense_Mutation_p.N248D|TLR5_uc001hnw.2_Missense_Mutation_p.N248D	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	248					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.N248D(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGATGGCATTGCTAAAGTTT	0.473000														95			24		0	0	0.000720815	0	0
DSP	1832	broad.mit.edu	37	6	7585285	7585285	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:7585285C>T	uc003mxp.1	+	23	8069	c.7790C>T	c.(7789-7791)tCc>tTc	p.S2597F	DSP_uc003mxq.1_Missense_Mutation_p.S1998F|DSP_uc021yle.1_Missense_Mutation_p.S2154F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2597	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCACCATATCCAGCGTCAGG	0.473000														68			33		0	0	0.000814825	0	0
ZNF169	169841	broad.mit.edu	37	9	97062697	97062698	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:97062697_97062698GG>AA	uc022bki.1	+	3	915_916	c.860_861GG>AA	c.(859-861)ggg>gAA	p.G287E	ZNF169_uc004aum.1_Missense_Mutation_p.G286E	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	286						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AAGCACTCGGGGGAGAAGCCGT	0.559000														25			23		0	0	6.4e-05	0	0
MAP4	4134	broad.mit.edu	37	3	47957775	47957775	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:47957775C>T	uc003csb.2	-	6	2068	c.1542G>A	c.(1540-1542)atG>atA	p.M514I	MAP4_uc003csc.3_Missense_Mutation_p.M514I|MAP4_uc011bbf.1_Missense_Mutation_p.M491I|MAP4_uc003csf.3_Missense_Mutation_p.M531I	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	514	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.E513E(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGCCCAGAGCCATTTCTGTTT	0.502000														77			54		0	0	0.000781405	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572238	76572238	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:76572238G>A	uc002fex.1	+	18	3368	c.3229_splice	c.e18+1	p.G1077_splice	CNTNAP4_uc002feu.1_Splice_Site_p.G1073_splice|CNTNAP4_uc002fev.1_Splice_Site_p.G938_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G1001_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1074	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCCAAAAATGGTGAGTTCTTT	0.358000														45			46		0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21230295	21230295	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:21230295C>T	uc002red.3	-	25	9573	c.9445G>A	c.(9445-9447)Gat>Aat	p.D3149N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3149					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGAGAGAAATCTTTCAGTGGA	0.333000														323			214		0	0	0.000781405	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098132	92098132	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:92098132C>T	uc022ahe.1	-	0	1564	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	522					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gctgagatttcctcaggaggg	0.547000														54			45		0	0	0.000781405	0	0
LILRA1	11024	broad.mit.edu	37	19	55107797	55107797	+	Missense_Mutation	SNP	C	T	T	rs143023552	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:55107797C>T	uc002qgh.1	+	6	1284	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	LILRA1_uc010yfg.1_Missense_Mutation_p.R366C|LILRA1_uc010yfh.2_Missense_Mutation_p.R368C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	368	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGCCCCCCTCCGTCTCAGATC	0.577000														49			17		0	0	0.000958276	0	0
OR5H1	26341	broad.mit.edu	37	3	97852270	97852270	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:97852270C>T	uc011bgt.2	+	0	729	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCTGTGGAGCCCATCTCTTCT	0.413000														57			31		0	0	0.00178596	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6064348	6064348	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:6064348C>T	uc003spp.3	-	14	1995	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	EIF2AK1_uc003spq.3_Missense_Mutation_p.D616N|EIF2AK1_uc011jwm.1_Missense_Mutation_p.D493N	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	617					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACCCCTTTGTCTTGAGAAAGG	0.378000														45			22		0	0	0.00047179	0	0
RTL1	388015	broad.mit.edu	37	14	101348386	101348386	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:101348386C>T	uc010txj.1	-	0	2799	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	914										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TACTCAACCTCGATAGGGGAG	0.577000														5			7		0	0	8.12818e-05	0	0
CHD6	84181	broad.mit.edu	37	20	40080585	40080585	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:40080585C>T	uc002xka.1	-	21	3582	c.3404G>A	c.(3403-3405)cGt>cAt	p.R1135H		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1135					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.R1135H(4)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGGAGGGCACGGCAAATCAT	0.517000														23			12		0	0	0.00136819	0	0
TG	7038	broad.mit.edu	37	8	134108585	134108585	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:134108585G>A	uc003ytw.3	+	42	7581	c.7540G>A	c.(7540-7542)Gac>Aac	p.D2514N	TG_uc010mdw.3_Missense_Mutation_p.D1273N|TG_uc011ljb.2_Missense_Mutation_p.D883N|TG_uc011ljc.2_Missense_Mutation_p.D647N|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2514					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCTCAGGACGACGGGCTCAT	0.562000														85			56		0	0	0.000781405	0	0
CHRNA4	1137	broad.mit.edu	37	20	61987436	61987436	+	Splice_Site	SNP	C	T	T	rs146651027	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:61987436C>T	uc002yes.2	-	4	452	c.274_splice	c.e4-1	p.E92_splice	CHRNA4_uc002yet.1_Intron|CHRNA4_uc010gke.1_Splice_Site|CHRNA4_uc002yev.1_Splice_Site|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	92					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGTGCCACTCCTGGATGAGG	0.697000														12			4		0	0	0.00024832	0	0
CYYR1	116159	broad.mit.edu	37	21	27938585	27938585	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:27938585G>A	uc002yme.3	-	2	498	c.176_splice	c.e2+1	p.S59_splice	CYYR1_uc002ymd.3_Splice_Site_p.S59_splice|CYYR1_uc011ack.2_Splice_Site	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAATACTCACGAGAGGATATT	0.433000														18			6		0	0	8.12818e-05	0	0
OR1G1	8390	broad.mit.edu	37	17	3030147	3030147	+	Silent	SNP	C	T	T	rs146714964	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:3030147C>T	uc002fvc.1	-	0	699	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CTTTCCGCTTCCCCTGAGCTG	0.488000														22			16		0	0	0.00121646	0	0
TOM1L1	10040	broad.mit.edu	37	17	53024633	53024634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:53024633_53024634GG>AA	uc002iud.2	+	11	1317_1318	c.1142_1143GG>AA	c.(1141-1143)agg>aAA	p.R381K	TOM1L1_uc010dca.1_Missense_Mutation_p.R381K|TOM1L1_uc010wnb.1_Missense_Mutation_p.R374K|TOM1L1_uc010wnc.1_Missense_Mutation_p.R304K|TOM1L1_uc010dbz.2_Missense_Mutation_p.R304K|TOM1L1_uc010wnd.1_Missense_Mutation_p.R269K|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	381					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTTGCCCAAAGGACCAGCCAAA	0.371000														32			17		0	0	6.4e-05	0	0
OR8K3	219473	broad.mit.edu	37	11	56085993	56085993	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:56085993C>T	uc010rjf.2	+	0	211	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTCATGGATCTTGGTTATTC	0.383000														64			63		0	0	0.000781405	0	0
TDRD6	221400	broad.mit.edu	37	6	46659662	46659662	+	Missense_Mutation	SNP	C	T	T	rs146723237		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:46659662C>T	uc003oyj.3	+	0	4051	c.3797C>T	c.(3796-3798)cCc>cTc	p.P1266L	TDRD6_uc010jze.3_Missense_Mutation_p.P1266L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1266					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGAGACACCCTTGAAAACA	0.358000														55			28		0	0	0.00106085	0	0
EXO1	9156	broad.mit.edu	37	1	242023851	242023851	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:242023851G>A	uc021plj.1	+	6	1103	c.789G>A	c.(787-789)atG>atA	p.M263I	EXO1_uc001hzh.3_Missense_Mutation_p.M263I|EXO1_uc009xgq.3_Missense_Mutation_p.M263I|EXO1_uc021plk.1_Missense_Mutation_p.M263I	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	263	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATCTCAAGATGAATATCACGG	0.363000								Editing and processing nucleases						70			53		0	0	0.000781405	0	0
NFASC	23114	broad.mit.edu	37	1	204956614	204956614	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:204956614C>T	uc010prc.2	+	22	3090	c.1561C>T	c.(1561-1563)Cat>Tat	p.H521Y	NFASC_uc001hbj.3_Missense_Mutation_p.H847Y|NFASC_uc010pra.2_Missense_Mutation_p.H950Y|NFASC_uc001hbi.3_Missense_Mutation_p.H950Y|NFASC_uc010prb.2_Missense_Mutation_p.H965Y|NFASC_uc001hbk.1_Missense_Mutation_p.H760Y|NFASC_uc001hbl.2_Missense_Mutation_p.H97Y|NFASC_uc001hbm.2_5'UTR|NFASC_uc001hbn.1_5'UTR			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	954	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGAATGGGATCATCCTGAGCA	0.517000														36			24		0	0	0.000720815	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815096	106815096	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:106815096G>A	uc003ymd.3	+	7	2809	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G660E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	929					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCCCCAATGGAAACTTATTT	0.423000														28			13		0	0	0.000219431	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														11			3		0	0	6.4e-05	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				61			44		0	0	0.000781405	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928651	10928651	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:10928651C>T	uc003mzo.3	+	17	1752	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.P106S	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	486						nucleus		p.P485T(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			gccggtccctccgttcggggt	0.473000														25			17		0	0	0.000958276	0	0
VPS13A	23230	broad.mit.edu	37	9	79843091	79843091	+	Silent	SNP	A	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:79843091A>G	uc004akr.3	+	16	1766	c.1506A>G	c.(1504-1506)agA>agG	p.R502R	VPS13A_uc004akp.4_Silent_p.R502R|VPS13A_uc004akq.4_Silent_p.R502R|VPS13A_uc004aks.3_Silent_p.R502R	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	502					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGTTCTAAGAGAAAATCATC	0.289000														15			8		0	0	0.000673444	0	0
CDH8	1006	broad.mit.edu	37	16	61891121	61891121	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:61891121G>C	uc002eog.2	-	3	1524	c.569C>G	c.(568-570)aCt>aGt	p.T190S	CDH8_uc002eoh.3_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCGGTCGCAGTGACGTTAGT	0.368000														36			10		0	0	0.000978159	0	0
KL	9365	broad.mit.edu	37	13	33635751	33635751	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:33635751G>A	uc001uus.3	+	3	2543	c.2535G>A	c.(2533-2535)gtG>gtA	p.V845V	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	845	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAGTCAGGTGGCGGTAGTGC	0.483000														30			24		0	0	0.000586117	0	0
SLC24A6	80024	broad.mit.edu	37	12	113748128	113748128	+	Missense_Mutation	SNP	C	T	T	rs142949596		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:113748128C>T	uc001tvc.3	-	11	1378	c.1168G>A	c.(1168-1170)Gtc>Atc	p.V390I	SLC24A6_uc001tuz.3_Missense_Mutation_p.V95I|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.V128I	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	390					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						ACGACCCAGACGGGAACGAGG	0.552000														33			12		0	0	0.00185496	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180852	74180852	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:74180852G>A	uc002avz.3	+	9	1059	c.976G>A	c.(976-978)Gat>Aat	p.D326N	TBC1D21_uc010ulc.2_Missense_Mutation_p.D290N	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	326						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CATCCAGAAGGATGTAAGTTG	0.562000														16			9		0	0	0.000673444	0	0
CYLC2	1539	broad.mit.edu	37	9	105767612	105767612	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:105767612A>T	uc004bbs.2	+	4	769	c.699A>T	c.(697-699)gaA>gaT	p.E233D		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	233	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.E233A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAGCCATAGAATTACAAGCTG	0.388000														20			16		0	0	0.000422831	0	0
LSS	4047	broad.mit.edu	37	21	47627360	47627360	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:47627360G>A	uc002zij.3	-	14	1528	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	LSS_uc002zil.2_Silent_p.L483L|LSS_uc011afv.1_Silent_p.L472L|LSS_uc002zik.2_Silent_p.L403L	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	483					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CAGCATCGCAGAGCCGTTCTC	0.612000														13			4		0	0	0.00116845	0	0
SRSF2	6427	broad.mit.edu	37	17	74733091	74733091	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:74733091G>A	uc002jsy.4	-	0	403	c.152C>T	c.(151-153)aCc>aTc	p.T51I	SRSF2_uc010wtg.2_Missense_Mutation_p.T51I|SRSF2_uc002jsv.3_Missense_Mutation_p.T51I|SRSF2_uc002jsw.2_5'Flank|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MIR636_uc021udo.1_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	51	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGACTCCTTGGTGTAGCGGTC	0.672000			Mis		"""MDS, CLL"""									14			4		0	0	0.000602214	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373427	65373427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:65373427G>A	uc001oew.3	-	6	2222	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	MAP3K11_uc001oev.3_5'UTR|MAP3K11_uc010rol.2_Nonsense_Mutation_p.Q320*|MAP3K11_uc001oex.1_Nonsense_Mutation_p.Q84*	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	577					G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.Q577H(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCCCATTCTGGGCTTCCCCA	0.617000														5			6		0	0	8.12818e-05	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629404	156629404	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:156629404G>A	uc003iov.3	+	5	870	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	GUCY1A3_uc003iou.2_Missense_Mutation_p.E112K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E112K|GUCY1A3_uc010iqd.3_Missense_Mutation_p.E112K|GUCY1A3_uc003iow.3_Missense_Mutation_p.E112K|GUCY1A3_uc003iox.3_Missense_Mutation_p.E112K|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.E112K|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.E112K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	112					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTGGAAAGAGAAGACTTTGA	0.279000														83			38		0	0	0.000680045	0	0
CNTN5	53942	broad.mit.edu	37	11	100061917	100061917	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:100061917G>A	uc001pga.3	+	13	2144	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	CNTN5_uc009ywv.2_Missense_Mutation_p.G547E|CNTN5_uc001pfz.3_Missense_Mutation_p.G547E|CNTN5_uc021qpb.1_Missense_Mutation_p.G547E|CNTN5_uc021qpc.1_Missense_Mutation_p.G473E|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	547	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCAGACGAGGGAAAGTACGTT	0.383000														18			18		0	0	0.00121646	0	0
CHIT1	1118	broad.mit.edu	37	1	203188447	203188447	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:203188447C>T	uc001gzn.2	-	8	1022	c.926G>A	c.(925-927)tGg>tAg	p.W309*	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Nonsense_Mutation_p.W100*|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Nonsense_Mutation_p.W300*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	309					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGCCCCCTTCCAGGAGCAGAC	0.572000														50			38		0	0	0.000953801	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687116	68687116	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:68687116C>T	uc001jmz.1	+	1	992	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.L148L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	148						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCTGCATTCTCTGGGATCTGA	0.438000														91			20		0	0	0.00188189	0	0
B4GALT5	9334	broad.mit.edu	37	20	48273116	48273116	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:48273116A>T	uc002xuu.4	-	1	433	c.239T>A	c.(238-240)gTa>gAa	p.V80E		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	80					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGAGTCATTTACACTGCTGTT	0.433000														199			19		0	0	0.00047179	0	0
TMEM165	55858	broad.mit.edu	37	4	56284107	56284107	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:56284107G>C	uc003hax.2	+	3	1014	c.747G>C	c.(745-747)tgG>tgC	p.W249C	TMEM165_uc011bzy.1_Missense_Mutation_p.W186C	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	249						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAGCAGAATGGGGTGATCGCT	0.353000														46			12		0	0	0.00185496	0	0
ITGAM	3684	broad.mit.edu	37	16	31336917	31336917	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:31336917C>T	uc002ebr.3	+	20	2703	c.2605C>T	c.(2605-2607)Cac>Tac	p.H869Y	ITGAM_uc002ebq.3_Missense_Mutation_p.H868Y|ITGAM_uc010can.3_Missense_Mutation_p.H274Y|ITGAM_uc002ebs.1_Missense_Mutation_p.H274Y	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	868					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGCATAAACCACCCCATCTT	0.542000														15			11		0	0	0.000978159	0	0
C8orf34	116328	broad.mit.edu	37	8	69621301	69621301	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:69621301C>T	uc010lyz.3	+	8	1605	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	C8orf34_uc003xyb.3_Silent_p.I327I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	352					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGAAAAAATCCCAGATTCAT	0.333000														23			7		0	0	0.000157383	0	0
C2orf62	375307	broad.mit.edu	37	2	219229428	219229429	+	Nonsense_Mutation	DNP	GG	AT	AT	rs148292950	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:219229428_219229429GG>AT	uc002vhr.3	+	6	737_738	c.708_709GG>AT	c.(706-711)gcggag>gcATag	p.E237*		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	237										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTCCACGCGGAGGAGGGCAT	0.589000														34			12		0	0	6.4e-05	0	0
AGMO	392636	broad.mit.edu	37	7	15427065	15427065	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:15427065T>C	uc003stb.1	-	8	1093	c.923A>G	c.(922-924)aAa>aGa	p.K308R		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	308					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGTCTTGGTTTACCTGGACC	0.428000														98			25		0	0	0.000878237	0	0
TDRD5	163589	broad.mit.edu	37	1	179561892	179561892	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:179561892C>T	uc010pnp.2	+	1	660	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	TDRD5_uc021pfm.1_Missense_Mutation_p.L48F|TDRD5_uc001gnf.2_Missense_Mutation_p.L48F|TDRD5_uc021pfn.1_Missense_Mutation_p.L48F|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	48	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACTCCGAATCCTTGGGTATCG	0.478000														71			44		0	0	0.000781405	0	0
OTOL1	131149	broad.mit.edu	37	3	161221562	161221562	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:161221562G>A	uc011bpb.2	+	3	1266	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	422	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTATGGTCAGGAAATAGACC	0.478000														19			4		0	0	0.00024832	0	0
SDK2	54549	broad.mit.edu	37	17	71354325	71354325	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:71354325C>T	uc010dfm.3	-	39	5486	c.5486G>A	c.(5485-5487)gGc>gAc	p.G1829D	SDK2_uc002jjt.4_Missense_Mutation_p.G969D|SDK2_uc010dfn.2_Missense_Mutation_p.G1508D	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1829	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GATGGGCACGCCAGGCGGTCC	0.647000														101			42		0	0	0.000437636	0	0
IL1B	3553	broad.mit.edu	37	2	113590272	113590272	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:113590272G>A	uc002tii.1	-	4	520	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	IL1B_uc002tih.1_Missense_Mutation_p.L114F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	145					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TGGAGGTGGAGAGCTTTCAGT	0.498000														61			45		0	0	0.000781405	0	0
C1orf141	400757	broad.mit.edu	37	1	67559025	67559025	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:67559025C>T	uc001ddl.1	-	6	977	c.866G>A	c.(865-867)gGc>gAc	p.G289D	C1orf141_uc001ddm.1_Missense_Mutation_p.G289D|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	289										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGTTGTGTGGCCCGCTTTAAA	0.328000														83			23		0	0	0.000586117	0	0
CYFIP2	26999	broad.mit.edu	37	5	156721794	156721794	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:156721794T>G	uc021ygm.1	+	3	348	c.210T>G	c.(208-210)aaT>aaG	p.N70K	CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.N70K|CYFIP2_uc021ygo.1_Missense_Mutation_p.N70K|CYFIP2_uc003lwt.3_5'Flank|CYFIP2_uc011ddp.2_5'Flank	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	70					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTTCAGAATGAGATGCTGG	0.542000														118			68		0	0	0.000781405	0	0
CARD11	84433	broad.mit.edu	37	7	2951870	2951870	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:2951870C>T	uc003smv.3	-	22	3414	c.3080G>A	c.(3079-3081)cGa>cAa	p.R1027Q		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1027	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTCTTCTCTCGGGAGTAGAT	0.592000			Mis		DLBCL									33			9		0	0	0.000274275	0	0
PSD3	23362	broad.mit.edu	37	8	18622975	18622975	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:18622975G>A	uc003wza.3	-	8	2259	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	PSD3_uc003wyy.3_Missense_Mutation_p.S185F|PSD3_uc003wyz.3_Missense_Mutation_p.S20F	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	720	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGATCCTTGGAGAAATCAAC	0.398000														69			23		0	0	0.000878237	0	0
E2F2	1870	broad.mit.edu	37	1	23836608	23836608	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:23836608G>A	uc001bhe.2	-	6	1505	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S		NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	360	Poly-Pro.|Transactivation (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGAGGCGGTGGGGCCTGCTGG	0.642000														9			10		0	0	0.000442599	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893356	75893356	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:75893356C>T	uc003kek.3	+	9	1222	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	334					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGCCCAGCTGCCTGCTGTTTA	0.532000														26			17		0	0	0.000422831	0	0
EFCAB6	64800	broad.mit.edu	37	22	44112819	44112819	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:44112819G>A	uc003bdy.2	-	8	1105	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EFCAB6_uc003bdz.2_Missense_Mutation_p.S112F|EFCAB6_uc010gzi.2_Missense_Mutation_p.S112F|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.S158F|EFCAB6_uc003bea.2_Missense_Mutation_p.S261F|EFCAB6_uc003beb.4_Missense_Mutation_p.S158F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTTTTTGGAATTTTTGGC	0.353000														42			15		0	0	0.000422831	0	0
BTNL8	79908	broad.mit.edu	37	5	180335918	180335918	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:180335918G>A	uc003mmp.3	+	1	616	c.382G>A	c.(382-384)Gag>Aag	p.E128K	BTNL8_uc003mmq.3_Missense_Mutation_p.E128K|BTNL8_uc010jll.3_Missense_Mutation_p.E128K|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	128	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCATCTGGGAGCTACAGGT	0.428000														150			41		0	0	0.000680045	0	0
OR4A15	81328	broad.mit.edu	37	11	55135946	55135946	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:55135946T>C	uc010rif.2	+	0	587	c.587T>C	c.(586-588)tTc>tCc	p.F196S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGCTCCCTTTCTGTGGACCC	0.428000														34			43		0	0	0.000437636	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708970	96708970	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:96708970G>A	uc001kka.4	+	4	773	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CYP2C9_uc009xut.3_Missense_Mutation_p.E250K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	250					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAAAGTAAAAGAACACCAAGA	0.313000														41			11		0	0	0.000673444	0	0
TRIM29	23650	broad.mit.edu	37	11	120008004	120008004	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:120008004G>A	uc001pwz.3	-	0	860	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	246					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AACATGCAAAGGTAGCAGATG	0.612000														34			31		0	0	0.00111076	0	0
DHX57	90957	broad.mit.edu	37	2	39050179	39050179	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:39050179G>A	uc002rrf.3	-	16	3346	c.3247C>T	c.(3247-3249)Cct>Tct	p.P1083S	DHX57_uc002rrd.4_Missense_Mutation_p.P467S|DHX57_uc002rre.3_Missense_Mutation_p.P516S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1083							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTGAGAGCAGGATCCAAACAG	0.443000														14			11		0	0	0.000673444	0	0
DEFB118	117285	broad.mit.edu	37	20	29960927	29960927	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:29960927G>A	uc002wvr.3	+	1	359	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	109					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGAGGCGGGAAGGGGAACT	0.433000														24			10		0	0	0.000673444	0	0
FECH	2235	broad.mit.edu	37	18	55218048	55218048	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:55218048G>A	uc002lgq.4	-	10	1285	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	FECH_uc002lgp.4_Nonsense_Mutation_p.Q396*|FECH_uc002lgr.4_Nonsense_Mutation_p.Q248*	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	390					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TCGTTTGACTGGATGTGTGAA	0.562000														34			12		0	0	0.000219431	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516026	84516026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:84516026G>A	uc003how.3	+	7	985	c.767G>A	c.(766-768)gGa>gAa	p.G256E	AGPAT9_uc003hox.3_Missense_Mutation_p.G256E|AGPAT9_uc003hoy.3_Missense_Mutation_p.G256E	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	256					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GGCTTGATGGGAATTATTCAG	0.428000														123			64		0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141771136	141771136	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:141771136C>T	uc002tvj.1	-	13	3341	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	790					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTTGCTTTCGTGGATCATA	0.333000										TSP Lung(27;0.18)				82			15		0	0	0.000219431	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:69058566C>T	uc003xxv.1	+	33	4237	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000														47			30		0	0	0.00178596	0	0
RPA1	6117	broad.mit.edu	37	17	1783889	1783889	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:1783889G>A	uc002fto.2	+	11	1260	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	382					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AAAGGAGCCCGAGTCTCTGAT	0.483000								Nucleotide excision repair (NER)						29			27		0	0	0.000720815	0	0
EBF2	64641	broad.mit.edu	37	8	25708165	25708165	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:25708165C>T	uc003xes.2	-	14	1906	c.1641G>A	c.(1639-1641)agG>agA	p.R547R	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	547					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCCTTGGGGCCTGATGACAG	0.522000														69			31		0	0	0.00178596	0	0
ASXL3	80816	broad.mit.edu	37	18	31319760	31319761	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:31319760_31319761AC>TT	uc010dmg.1	+	10	2447_2448	c.2392_2393AC>TT	c.(2392-2394)acc>TTc	p.T798F	ASXL3_uc002kxq.2_Missense_Mutation_p.T505F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAGAACCTTACCTCCCAGCAG	0.475000														22			12		0	0	6.4e-05	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625542	140625542	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140625542G>A	uc003lje.3	+	0	396	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	132	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTCCTGAGTTTCCTGAAA	0.433000														56			37		0	0	0.000781405	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804147	160804147	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:160804147G>A	uc003fdv.3	-	4	815	c.396C>T	c.(394-396)tcC>tcT	p.S132S	B3GALNT1_uc003fdw.3_Silent_p.S132S|B3GALNT1_uc003fdx.3_Silent_p.S132S|B3GALNT1_uc003fdy.3_Silent_p.S132S|B3GALNT1_uc003fdz.3_Silent_p.S132S|B3GALNT1_uc003fea.3_Silent_p.S132S|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Silent_p.S132S	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	132					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CATCCTCTAAGGACAATGCCA	0.383000														45			33		0	0	0.000491102	0	0
OVCH1	341350	broad.mit.edu	37	12	29640716	29640716	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:29640716G>A	uc001rix.1	-	6	802	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	268	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tttcttaCGGGAACTGAACCT	0.473000														2			9		0	0	0.000442599	0	0
L1TD1	54596	broad.mit.edu	37	1	62675553	62675553	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:62675553G>A	uc021ooc.1	+	4	1542	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	L1TD1_uc001dae.4_Silent_p.E369E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	369	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CTAAGCCAGAGGAGATGAAAA	0.438000														76			60		0	0	0.000781405	0	0
FILIP1	27145	broad.mit.edu	37	6	76023724	76023724	+	Silent	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:76023724T>C	uc010kbe.3	-	5	2363	c.1833A>G	c.(1831-1833)agA>agG	p.R611R	FILIP1_uc003phy.1_Silent_p.R608R|FILIP1_uc003phz.3_Silent_p.R509R|FILIP1_uc003pia.3_Silent_p.R608R|FILIP1_uc003pib.1_Silent_p.R360R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	608										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGTTATTTCTCTTTCCACTT	0.383000														120			72		0	0	0.000781405	0	0
ZNF876P	642280	broad.mit.edu	37	4	248180	248180	+	RNA	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:248180C>T	uc010iba.3	+	1		c.1014C>T								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		AATCCTCATCCCTTAATAAAC	0.368000														53			20		0	0	0.00152264	0	0
SEPP1	6414	broad.mit.edu	37	5	42807042	42807042	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:42807042C>G	uc011cps.2	-	3	560	c.462G>C	c.(460-462)tgG>tgC	p.W154C	SEPP1_uc011cpt.2_Missense_Mutation_p.W124C|SEPP1_uc011cpu.2_Missense_Mutation_p.W124C|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	124					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTAAAAGAGTCCAGACATCTG	0.318000														71			5		0	0	0.00116845	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173257	207173257	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:207173257C>T	uc002vbp.2	+	4	4255	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1335							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTCAAATATCCCTCTTCAGT	0.383000														54			26		0	0	0.00047179	0	0
SPTA1	6708	broad.mit.edu	37	1	158592976	158592977	+	Missense_Mutation	DNP	GA	TG	TG			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158592976_158592977GA>TG	uc001fst.1	-	42	6115_6116	c.5916_5917TC>CA	c.(5914-5919)actctg>acCAtg	p.L1973M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1973					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1973L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGCATCCAGAGTGTCCTGAG	0.465000														127			126		0	0	6.4e-05	0	0
PDE7B	27115	broad.mit.edu	37	6	136475307	136475307	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:136475307G>A	uc003qgp.3	+	6	876	c.573G>A	c.(571-573)gaG>gaA	p.E191E	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Silent_p.E243E	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	191	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.E191D(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ACCTGAAAGAGCCAAAGGTAA	0.512000														14			4		0	0	0.00024832	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889196	23889196	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:23889196C>T	uc001ywj.4	-	0	3798	c.3694G>A	c.(3694-3696)Gaa>Aaa	p.E1232K		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTGTCAGGTTCATCCTCATCT	0.572000														11			14		0	0	0.000422831	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666155	49666155	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:49666155C>T	uc010smi.1	-	0	855	c.433G>A	c.(433-435)Gga>Aga	p.G145R	TUBA1C_uc010smh.1_Silent_p.S235S|TUBA1C_uc001rtt.1_Silent_p.S165S			Q9BQE3	TBA1C_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100017296 3' read TUBA1C mRNA.	0					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GCAAGAAGTCCAAGCTGGAGT	0.547000														12			20		0	0	0.00121646	0	0
NDST4	64579	broad.mit.edu	37	4	115792005	115792005	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:115792005C>T	uc003ibu.3	-	6	2317	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	546	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.N545K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTGCAATTTCAGGTTGGTCC	0.443000														52			26		0	0	0.00106085	0	0
MYO1F	4542	broad.mit.edu	37	19	8618261	8618261	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:8618261C>T	uc002mkg.3	-	4	525	c.387G>A	c.(385-387)aaG>aaA	p.K129K	MYO1F_uc010xkf.2_Silent_p.K129K	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	129	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCCAGACACCTTGGAGATGT	0.547000														48			19		0	0	0.000295444	0	0
RASAL3	64926	broad.mit.edu	37	19	15562704	15562704	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:15562704C>T	uc002nbe.2	-	17	3024	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	WIZ_uc002nbb.4_5'Flank|RASAL3_uc002nbd.3_3'UTR	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	980					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGGACAGCATCCCTCAGCTGA	0.607000														19			8		0	0	0.000157383	0	0
PEG3	5178	broad.mit.edu	37	19	57327768	57327768	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:57327768T>C	uc002qnu.2	-	6	2393	c.2042A>G	c.(2041-2043)aAg>aGg	p.K681R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K652R|PEG3_uc002qnv.2_Missense_Mutation_p.K681R|PEG3_uc002qnw.2_Missense_Mutation_p.K557R|PEG3_uc002qnx.2_Missense_Mutation_p.K555R|PEG3_uc010etr.2_Missense_Mutation_p.K681R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	681					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCTTCTCCTTATTGTAAGT	0.428000														71			21		0	0	0.000375601	0	0
MR1	3140	broad.mit.edu	37	1	181018257	181018257	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:181018257C>T	uc001goq.2	+	2	298	c.137C>T	c.(136-138)tCg>tTg	p.S46L	MR1_uc001gor.2_Missense_Mutation_p.S46L|MR1_uc001gos.2_Missense_Mutation_p.S46L|MR1_uc010pns.2_Missense_Mutation_p.S46L|MR1_uc001gop.3_Missense_Mutation_p.S46L	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	46	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity	p.S46L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAATTTATTTCGGTTGGGTAC	0.547000														27			12		0	0	0.00136819	0	0
DUSP13	51207	broad.mit.edu	37	10	76868835	76868835	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:76868835G>A	uc001jww.3	-	0	136	c.81C>T	c.(79-81)ctC>ctT	p.L27L	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Silent_p.L27L|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	27						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGCCCGCAGGAGCTCCTCCA	0.637000														12			6		0	0	8.12818e-05	0	0
CARD6	84674	broad.mit.edu	37	5	40843311	40843311	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:40843311C>T	uc003jmg.3	+	1	416	c.341C>T	c.(340-342)tCa>tTa	p.S114L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	114					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGCAGTAATTCAGAAGATGCT	0.388000														38			32		0	0	0.000491102	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:40790031C>T	uc002xkg.3	-	16	2827	c.2643G>A	c.(2641-2643)atG>atA	p.M881I	PTPRT_uc010ggj.3_Missense_Mutation_p.M900I|PTPRT_uc010ggi.3_Missense_Mutation_p.M84I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	881					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCTCTTCATCTGCGTGA	0.562000														30			12		0	0	0.00136819	0	0
ZNF556	80032	broad.mit.edu	37	19	2878181	2878181	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:2878181G>A	uc002lwp.1	+	3	1312	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R	ZNF556_uc002lwq.3_Missense_Mutation_p.G408R	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTCAGGCGGGCTTTGCTC	0.458000														44			39		0	0	0.000437636	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056698	183056698	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:183056698G>A	uc003fli.1	-	4	466	c.376C>T	c.(376-378)Cca>Tca	p.P126S	MCF2L2_uc003flj.1_Missense_Mutation_p.P126S|MCF2L2_uc003flp.1_Missense_Mutation_p.P161S	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	126	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGTTTCCTGGAAATGCCACC	0.418000														58			10		0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38810452	38810452	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:38810452C>T	uc021yzh.1	+	34	4727	c.4618C>T	c.(4618-4620)Cca>Tca	p.P1540S	DNAH8_uc003ooe.2_Missense_Mutation_p.P1323S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.N1540I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCGTAAACTTCCAAAAGGACT	0.328000														56			32		0	0	0.000491102	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320843	128320843	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:128320843G>A	uc003kuy.3	+	2	895	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E167K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	167					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGAACGGTAGAAGAAATCCT	0.388000														15			8		0	0	0.000442599	0	0
ITLN1	55600	broad.mit.edu	37	1	160851073	160851073	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:160851073C>T	uc001fxc.3	-	4	551	c.435G>A	c.(433-435)aaG>aaA	p.K145K		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	145	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCCCAGGTCCTTGGCCTGGA	0.597000														47			19		0	0	0.00152264	0	0
OR1L6	392390	broad.mit.edu	37	9	125512978	125512978	+	Silent	SNP	C	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:125512978C>G	uc022bna.1	+	0	852	c.852C>G	c.(850-852)ccC>ccG	p.P284P		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TAGTGACACCCATGCTGAACC	0.418000														13			3		0	0	0.00024832	0	0
TNXB	7148	broad.mit.edu	37	6	31977580	31977580	+	RNA	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:31977580G>A	uc021yvf.1	-	8		c.2232C>T						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GATGGTGCTGGTCCTGGAGGC	0.652000														90			24		0	0	0.000339439	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677497	19677497	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:19677497C>T	uc002wrl.3	+	13	1745	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	516						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.T515N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATCACCTTCCTGGCTGCTG	0.587000														33			10		0	0	0.000978159	0	0
COL3A1	1281	broad.mit.edu	37	2	189875503	189875503	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:189875503C>T	uc002uqj.1	+	49	4258	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1381	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATACATGGATCAGGCCAGTGG	0.453000														24			8		0	0	0.000157383	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754493	31754493	+	Silent	SNP	G	A	A	rs61748126		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:31754493G>A	uc002rnw.1	-	4	650	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	194					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TCTCACCGAGGAAATTGGCTC	0.468000														22			7		0	0	0.000274275	0	0
ZNF792	126375	broad.mit.edu	37	19	35449270	35449270	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35449270G>A	uc002nxh.1	-	3	1876	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGAAGTCTCCGATGGCTATTG	0.493000														31			17		0	0	0.000958276	0	0
KPRP	448834	broad.mit.edu	37	1	152733161	152733161	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:152733161C>T	uc001fal.1	+	1	1155	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	KPRP_uc021ozf.1_Missense_Mutation_p.S366F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	366	Pro-rich.					cytoplasm		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGCGCCTCCTGCCCTGAG	0.647000														38			19		0	0	0.00152264	0	0
DPYD	1806	broad.mit.edu	37	1	97658661	97658661	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:97658661C>T	uc001drv.3	-	19	2723	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	862					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GAACTGGTTTCCCTTTCTGGT	0.438000														45			26		0	0	0.000878237	0	0
FREM2	341640	broad.mit.edu	37	13	39264404	39264404	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:39264404G>A	uc001uwv.3	+	0	3232	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	975					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACCAATGAGGAAACTGATGA	0.443000														68			18		0	0	0.00074312	0	0
IGFBP2	3485	broad.mit.edu	37	2	217526682	217526682	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:217526682C>T	uc021vwn.1	+	2	894	c.774C>T	c.(772-774)atC>atT	p.I258I	IGFBP2_uc010zju.2_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	Homo sapiens insulin-like growth factor binding protein 2, 36kDa (IGFBP2), mRNA.	258	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCCTGCACATCCCCAACTGTG	0.632000														26			16		0	0	0.000422831	0	0
SLC2A12	154091	broad.mit.edu	37	6	134312437	134312437	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:134312437C>T	uc003qem.1	-	4	1881	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	570						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGTTGTTTTTCACATAGTTCC	0.368000														24			27		0	0	0.00127121	0	0
GABRB2	2561	broad.mit.edu	37	5	160758087	160758087	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:160758087C>T	uc003lys.1	-	8	1098	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GABRB2_uc011deh.1_Missense_Mutation_p.E133K|GABRB2_uc003lyr.1_Missense_Mutation_p.E294K|GABRB2_uc003lyt.1_Missense_Mutation_p.E294K|GABRB2_uc021yhg.1_Missense_Mutation_p.E231K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	294					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGAGAGTTTCCCGGAGGTGG	0.433000														80			57		0	0	0.000781405	0	0
WDR60	55112	broad.mit.edu	37	7	158672385	158672385	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:158672385G>A	uc003woe.4	+	4	742	c.584G>A	c.(583-585)gGa>gAa	p.G195E	WDR60_uc010lqv.3_Non-coding_Transcript	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	195								p.Y194Y(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTGCAGTACGGAGACAGCAAG	0.517000														14			20		0	0	0.00188189	0	0
ACE	1636	broad.mit.edu	37	17	61564371	61564371	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:61564371G>A	uc002jau.2	+	14	2276	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	ACE_uc010wpj.2_Missense_Mutation_p.E174K|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.E174K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.E58K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	748	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTTGGATATGGAAACCACCTA	0.592000														55			40		0	0	0.000781405	0	0
EVX1	2128	broad.mit.edu	37	7	27285648	27285648	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:27285648C>T	uc003szd.1	+	2	1314	c.828C>T	c.(826-828)caC>caT	p.H276H	EVX1_uc011jzn.1_Silent_p.H94H|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCCCATCGCACCTGCCCCTGC	0.741000														11			4		0	0	0.000602214	0	0
ASPM	259266	broad.mit.edu	37	1	197094013	197094013	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:197094013G>A	uc001gtu.3	-	11	3412	c.3155C>T	c.(3154-3156)gCg>gTg	p.A1052V	ASPM_uc001gtv.3_Missense_Mutation_p.A1052V|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1052	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.A1052V(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAAGCAAACGCTATTTTCCA	0.279000														174			46		0	0	0.000781405	0	0
PLK1	5347	broad.mit.edu	37	16	23700835	23700835	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:23700835C>T	uc002dlz.1	+	8	1499	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	482					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTAAATATTTCCGCAATTACA	0.552000														43			18		0	0	0.00152264	0	0
DNAH8	1769	broad.mit.edu	37	6	38875892	38875892	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:38875892C>T	uc021yzh.1	+	63	9618	c.9509C>T	c.(9508-9510)tCt>tTt	p.S3170F	DNAH8_uc003ooe.2_Missense_Mutation_p.S2953F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCTGCTTTTCTCCAGTAAGT	0.328000														25			20		0	0	0.00121646	0	0
AIFM2	84883	broad.mit.edu	37	10	71873973	71873973	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:71873973G>A	uc010qjg.2	-	7	1099	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	AIFM2_uc021psi.1_Silent_p.V361V|AIFM2_uc001jqp.2_Silent_p.V361V	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	361					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						AGCTCGTAGAGACGAACAGGT	0.602000														18			9		0	0	0.000274275	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31975170	31975170	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:31975170G>A	uc010gek.3	-	5	838	c.714C>T	c.(712-714)gtC>gtT	p.V238V	CDK5RAP1_uc002wyy.3_Silent_p.V148V|CDK5RAP1_uc002wyz.3_Silent_p.V238V|CDK5RAP1_uc002wza.3_Silent_p.V238V|CDK5RAP1_uc010gel.3_Silent_p.V148V|CDK5RAP1_uc010gem.3_Silent_p.V238V|CDK5RAP1_uc002wzc.1_Silent_p.V238V|CDK5RAP1_uc010gen.3_Silent_p.V238V	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	238					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGACTGGCATGACATCAGCAT	0.552000														31			11		0	0	0.00136819	0	0
USPL1	10208	broad.mit.edu	37	13	31233315	31233315	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:31233315C>T	uc001utc.2	+	8	3533	c.3101C>T	c.(3100-3102)cCa>cTa	p.P1034L	USPL1_uc001utd.2_Missense_Mutation_p.P705L|USPL1_uc001ute.1_Missense_Mutation_p.P705L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	1034					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.P1034S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAATCCATGTGAAGTT	0.408000														61			15		0	0	0.000219431	0	0
PDZD4	57595	broad.mit.edu	37	X	153069985	153069985	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:153069985G>A	uc004fja.1	-	7	1401	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	PDZD4_uc004fiy.1_Missense_Mutation_p.P303L|PDZD4_uc004fiz.1_Missense_Mutation_p.P378L|PDZD4_uc004fix.2_Missense_Mutation_p.P282L|PDZD4_uc011mze.1_Missense_Mutation_p.P269L|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	378						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCCGGGGAAAGAGGAG	0.642000														3			9		0	0	0.000673444	0	0
SCN9A	6335	broad.mit.edu	37	2	167060918	167060918	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:167060918C>T	uc010fpl.3	-	24	4763	c.4422G>A	c.(4420-4422)atG>atA	p.M1474I	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1485						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGCTTTTTCATTGCATTAT	0.308000														50			29		0	0	0.000409698	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101811446	101811446	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:101811446C>T	uc003knn.3	-	3	1026	c.854G>A	c.(853-855)gGa>gAa	p.G285E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G223E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G285E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G223E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	285						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TAGTGGTGCTCCTAGCACATA	0.328000														109			19		0	0	0.00188189	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716008	13716008	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:13716008G>A	uc001rbt.2	-	12	4343	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1388					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAAAAGTGGGGATGAAAGGGT	0.622000														10			19		0	0	0.00074312	0	0
OR11L1	391189	broad.mit.edu	37	1	248004429	248004429	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:248004429G>A	uc001idn.1	-	0	770	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACATACATGGAGATCATGGT	0.498000														50			23		0	0	0.000375601	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507480	74507480	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:74507480G>A	uc001dfy.4	-	6	1327	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	379								p.P379fs*26(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353000														72			11		0	0	0.000308642	0	0
OR4K17	390436	broad.mit.edu	37	14	20586246	20586246	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:20586246G>A	uc001vwo.1	+	0	681	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTTTGTACAGGTAGTCATTG	0.413000														39			56		0	0	0.000781405	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038885	41038885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:41038885G>A	uc003jmj.4	-	20	2657	c.2167C>T	c.(2167-2169)Caa>Taa	p.Q723*	HEATR7B2_uc003jmi.4_Nonsense_Mutation_p.Q278*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	723							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATGATATCTTGATTAAGTCTG	0.483000														17			19		0	0	0.00121646	0	0
GRM6	2916	broad.mit.edu	37	5	178417597	178417597	+	Silent	SNP	G	A	A	rs138201914		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:178417597G>A	uc003mjr.3	-	3	1187	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	336					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACTCACCGTCGATGGAGGCCC	0.617000														12			4		0	0	0.00116845	0	0
FLG2	388698	broad.mit.edu	37	1	152323507	152323507	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:152323507C>T	uc001ezw.4	-	2	6828	c.6755G>A	c.(6754-6756)gGa>gAa	p.G2252E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2252							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.517000														187			83		0	0	0.000781405	0	0
ESYT3	83850	broad.mit.edu	37	3	138174110	138174110	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:138174110C>T	uc003esk.3	+	2	670	c.444C>T	c.(442-444)atC>atT	p.I148I	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	148						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGCCCAAGATCCGAGAGAAGA	0.537000														80			75		0	0	0.000781405	0	0
NDC80	10403	broad.mit.edu	37	18	2595414	2595414	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:2595414G>A	uc002kli.3	+	11	1198	c.1016_splice	c.e11-1	p.E339_splice		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	339	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTCCAACACAGAACTAGAATG	0.328000														47			19		0	0	0.00074312	0	0
CUX1	1523	broad.mit.edu	37	7	101840249	101840249	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:101840249C>T	uc003uys.4	+	14	1718	c.1591C>T	c.(1591-1593)Caa>Taa	p.Q531*	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.Q520*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	520					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						CATATCTTCCCAAAGTCCATT	0.522000														57			12		0	0	0.00136819	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:107022168G>A	uc001kyi.1	+	25	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507000														15			10		0	0	0.000442599	0	0
AGAP7	653268	broad.mit.edu	37	10	51465643	51465643	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:51465643C>T	uc001jio.3	-	6	939	c.813G>A	c.(811-813)ggG>ggA	p.G271G	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	271	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCAGCCATTTCCCACTTCGCT	0.458000														142			7		0	0	0.000978159	0	0
ACSM1	116285	broad.mit.edu	37	16	20638573	20638573	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:20638573C>T	uc002dhm.1	-	9	1433	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.K455K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	455					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.K455K(2)|p.K106K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCATCCATCTTACCTCTGT	0.507000														220			47		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181701796	181701796	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:181701796G>A	uc009wxt.3	+	19	2769	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G	CACNA1E_uc001gow.3_Silent_p.G858G|CACNA1E_uc009wxs.3_Silent_p.G839G|CACNA1E_uc001gox.1_Silent_p.G84G	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	858					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCTCAAGGGGGATGGAGGGG	0.672000														7			4		0	0	0.00024832	0	0
SOX7	83595	broad.mit.edu	37	8	10583598	10583598	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:10583598G>A	uc011kwz.2	-	5	1006	c.973C>T	c.(973-975)Cct>Tct	p.P325S	SOX7_uc003wtf.3_Missense_Mutation_p.P273S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	273	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCGGGTACAGGGGACATCATG	0.677000														30			12		0	0	0.000308642	0	0
TDRD1	56165	broad.mit.edu	37	10	115947899	115947899	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:115947899G>A	uc001lbg.1	+	1	462	c.309G>A	c.(307-309)agG>agA	p.R103R	TDRD1_uc001lbf.3_Silent_p.R94R|TDRD1_uc001lbh.1_Silent_p.R94R|TDRD1_uc001lbi.1_Silent_p.R94R	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	103					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGGAGACAGGAAAAAATTGC	0.428000														48			20		0	0	0.00152264	0	0
STS	412	broad.mit.edu	37	X	7243496	7243496	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:7243496C>T	uc004cry.4	+	7	1458	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	405					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GGACATATTTCCTACAGTAGC	0.542000									Ichthyosis					15			23		0	0	0.000878237	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594468	41594468	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:41594468G>A	uc002opt.3	+	0	101	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	31					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AAGAGCAGGGGGAAGCTGCCT	0.582000														23			17		0	0	0.00074312	0	0
BLNK	29760	broad.mit.edu	37	10	97987287	97987287	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:97987287G>A	uc001kls.4	-	4	418	c.240C>T	c.(238-240)gaC>gaT	p.D80D	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Silent_p.D80D|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Silent_p.D80D|BLNK_uc001kly.4_Silent_p.D80D|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Silent_p.D80D|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	80					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACATCTCTGAGTCCGAGTGCT	0.597000														51			18		0	0	0.000958276	0	0
ALG13	79868	broad.mit.edu	37	X	110951568	110951568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:110951568C>T	uc011msy.2	+	3	798	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ALG13_uc011msw.2_Nonsense_Mutation_p.R155*|ALG13_uc011msx.2_Nonsense_Mutation_p.R129*|ALG13_uc011msz.2_Nonsense_Mutation_p.R155*|ALG13_uc011mta.2_Nonsense_Mutation_p.R129*|ALG13_uc011mtb.2_Nonsense_Mutation_p.R129*	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	233	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	p.P232S(1)		endometrium(2)|lung(10)|skin(1)	13						AGGGCTGTTTCGAAAGCTGAC	0.443000														28			63		0	0	0.000781405	0	0
MYOCD	93649	broad.mit.edu	37	17	12626325	12626325	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:12626325G>A	uc002gno.2	+	5	714	c.415_splice	c.e5+1	p.G139_splice	MYOCD_uc002gnn.2_Splice_Site_p.G139_splice|MYOCD_uc002gnp.1_Splice_Site_p.G43_splice	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	139					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCCATAAAAGGTAGTTAGAA	0.478000														50			27		0	0	0.000339439	0	0
C20orf96	140680	broad.mit.edu	37	20	264671	264671	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:264671G>A	uc002wde.2	-	3	407	c.239C>T	c.(238-240)cCa>cTa	p.P80L	C20orf96_uc021vzl.1_Missense_Mutation_p.P79L|C20orf96_uc010zpi.2_Missense_Mutation_p.P27L|C20orf96_uc010zpj.1_Missense_Mutation_p.P45L|C20orf96_uc010zpk.2_Missense_Mutation_p.P18L	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	80										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TAGTTCTCTTGGATTCTTCGG	0.537000														30			11		0	0	0.000978159	0	0
EDIL3	10085	broad.mit.edu	37	5	83362369	83362369	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:83362369C>T	uc003kio.1	-	6	1127	c.708G>A	c.(706-708)agG>agA	p.R236R	EDIL3_uc003kip.1_Silent_p.R226R|EDIL3_uc011ctt.1_Silent_p.R13R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	236	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGCTTCCAATCCTCTTGGCTC	0.388000														34			30		0	0	0.000409698	0	0
DSCAML1	57453	broad.mit.edu	37	11	117332272	117332272	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:117332272G>A	uc001prh.1	-	17	3488	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1102	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTCAGAAGTGATGGACAGGG	0.607000														27			25		0	0	0.001512	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:73787510G>A	uc011dyh.2	+	4	1165	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_uc003pgj.4_Missense_Mutation_p.G273E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G273E|KCNQ5_uc010kat.3_Missense_Mutation_p.G273E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G273E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G273E|KCNQ5_uc011dyk.2_Missense_Mutation_p.G32E	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000														45			10		0	0	0.000442599	0	0
NT5C2	22978	broad.mit.edu	37	10	104860814	104860814	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:104860814G>A	uc001kwo.3	-	7	720	c.527C>T	c.(526-528)cCc>cTc	p.P176L	NT5C2_uc010qqp.2_Missense_Mutation_p.P147L|NT5C2_uc001kwq.3_Missense_Mutation_p.P176L|NT5C2_uc001kwp.3_5'UTR	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	176					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GGTATATCTGGGACAATTAGT	0.299000														39			15		0	0	0.000219431	0	0
INSRR	3645	broad.mit.edu	37	1	156815164	156815164	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:156815164C>T	uc010pht.2	-	11	2515	c.2216_splice	c.e11+1	p.R739_splice	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	739					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTGCTCACCTTTGGGGGCT	0.667000														26			9		0	0	0.000673444	0	0
KRT38	8687	broad.mit.edu	37	17	39596778	39596778	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:39596778C>T	uc002hwq.1	-	0	819	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	132	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GTGTGGCCTCCAGCTCCGCAT	0.592000														37			25		0	0	0.00106085	0	0
PDE2A	5138	broad.mit.edu	37	11	72289953	72289953	+	Silent	SNP	C	T	T	rs143835725		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:72289953C>T	uc010rrc.2	-	27	2703	c.2457G>A	c.(2455-2457)acG>acA	p.T819T	PDE2A_uc001oso.3_Silent_p.T798T|PDE2A_uc010rra.2_Silent_p.T812T|PDE2A_uc001osn.3_Silent_p.T563T|PDE2A_uc010rrb.2_Silent_p.T810T|PDE2A_uc010rrd.2_Silent_p.T704T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	819	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGATCTTTCTCGTAGTCTTCC	0.592000														67			105		0	0	0.000781405	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503169	140503169	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140503169T>G	uc003lip.1	+	0	1589	c.1589T>G	c.(1588-1590)gTg>gGg	p.V530G		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCCGCGTGGGCGCCTCA	0.672000														49			11		0	0	0.00136819	0	0
FAM83C	128876	broad.mit.edu	37	20	33875213	33875213	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:33875213G>A	uc021wck.1	-	3	1487	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.R112W	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	457										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGGCACCCCGATGGAACTGG	0.647000														11			5		0	0	0.00116845	0	0
AMPH	273	broad.mit.edu	37	7	38500904	38500904	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:38500904G>A	uc003tgu.3	-	10	1212	c.996C>T	c.(994-996)atC>atT	p.I332I	AMPH_uc003tgv.3_Silent_p.I332I|AMPH_uc003tgt.3_Silent_p.I85I	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	332					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGTCACACTGATTTCTGGAA	0.507000														66			39		0	0	0.00170553	0	0
EPHA8	2046	broad.mit.edu	37	1	22923821	22923821	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:22923821C>T	uc001bfx.1	+	9	1907	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	594						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCTGTCTTCCTGCCTCTGC	0.657000														19			12		0	0	0.00136819	0	0
IRF6	3664	broad.mit.edu	37	1	209968740	209968740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:209968740C>T	uc001hhq.2	-	4	707	c.403G>A	c.(403-405)Gat>Aat	p.D135N	IRF6_uc010psm.2_Missense_Mutation_p.D40N	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	135					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCTTCTCATCCCAGGGAGCA	0.537000										HNSCC(57;0.16)				44			17		0	0	0.00074312	0	0
PGD	5226	broad.mit.edu	37	1	10468150	10468150	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:10468150C>T	uc001arc.3	+	5	562	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	PGD_uc010oak.2_Nonsense_Mutation_p.Q136*	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	158					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GACCATCTTCCAAGGCATTGC	0.498000														99			17		0	0	0.00074312	0	0
HAUS5	23354	broad.mit.edu	37	19	36110399	36110399	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:36110399C>T	uc002oam.1	+	13	1304	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	418					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCCGGAGCCCGGGGGAGGTG	0.642000														9			4		0	0	0.00024832	0	0
NR1H4	9971	broad.mit.edu	37	12	100934528	100934528	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:100934528C>T	uc001tht.2	+	6	1068	c.1040C>T	c.(1039-1041)gCt>gTt	p.A347V	NR1H4_uc001thq.2_Missense_Mutation_p.A337V|NR1H4_uc001thp.2_Missense_Mutation_p.A333V|NR1H4_uc001thr.2_Missense_Mutation_p.A337V|NR1H4_uc010svk.2_Missense_Mutation_p.A286V|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.A343V	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	347	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTTCGTTCAGCTGAGATTTTC	0.393000														36			36		0	0	0.000692331	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915897	77915897	+	Silent	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:77915897G>A	uc002jxj.3	-	10	2133	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L	TBC1D16_uc002jxh.3_Silent_p.L311L|TBC1D16_uc002jxi.3_Silent_p.L298L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	673						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGCATGGCCAGGTTTCCGAAG	0.647000														18			7		0	0	8.12818e-05	0	0
ZNF235	9310	broad.mit.edu	37	19	44792215	44792215	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:44792215G>A	uc002oza.4	-	4	1476	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P454L	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACATTTGTATGGTTTTTCTTC	0.388000														55			16		0	0	0.00074312	0	0
HPGDS	27306	broad.mit.edu	37	4	95239087	95239087	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:95239087C>T	uc003hte.1	-	2	254	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	55	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	p.L54fs*12(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CCATCAACTTCCAAAATGGGG	0.323000														51			16		0	0	0.00188189	0	0
TGM5	9333	broad.mit.edu	37	15	43552268	43552268	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:43552268A>T	uc001zrd.2	-	2	426	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	140					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CAGGGATTGAAAAGCAGGATG	0.597000														16			18		0	0	0.00152264	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188595	140188595	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140188595C>T	uc003lhi.2	+	0	1924	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S608L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S608L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	621	Cadherin 6.				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)			GCGTGGCTTTCGTACGAGCTG	0.677000														34			17		0	0	0.00074312	0	0
OR8B2	26595	broad.mit.edu	37	11	124252578	124252578	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:124252578A>T	uc010sai.2	-	0	662	c.662T>A	c.(661-663)aTt>aAt	p.I221N		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTAGTGACAATGAAAACATA	0.418000														52			46		0	0	0.000781405	0	0
ABCA4	24	broad.mit.edu	37	1	94480120	94480120	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:94480120C>T	uc001dqh.3	-	37	5543	c.5439G>A	c.(5437-5439)ttG>ttA	p.L1813L	ABCA4_uc009wdp.1_Silent_p.L81L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1813					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAATAATTCCAAGATGAAGG	0.438000														88			77		0	0	0.000781405	0	0
MRPS35	60488	broad.mit.edu	37	12	27869317	27869317	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:27869317C>T	uc001rih.3	+	2	318	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	MRPS35_uc001rii.3_Missense_Mutation_p.L83F	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TGCAGTACCTCTTCCTGTTCG	0.458000														21			17		0	0	0.000958276	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067573	116067573	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:116067573C>T	uc001lbn.3	-	9	1364	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	AFAP1L2_uc001lbo.3_Missense_Mutation_p.E355K|AFAP1L2_uc010qse.2_Missense_Mutation_p.E408K|AFAP1L2_uc001lbp.3_Missense_Mutation_p.E383K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E355K|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	355	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGGATGTCTCGAGGGACCTC	0.542000														26			5		0	0	0.000602214	0	0
OR2W5	441932	broad.mit.edu	37	1	247654597	247654597	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:247654597C>A	uc001icz.2	+	0	228	c.168C>A	c.(166-168)caC>caA	p.H56Q		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCAGGCTCCACACACCCATGT	0.498000														30			16		1.15088e-07	7.07029e-07	0.000422831	1	0
DNAJC16	23341	broad.mit.edu	37	1	15892468	15892468	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:15892468C>T	uc001aws.3	+	11	1773	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	DNAJC16_uc001awr.1_Silent_p.F551F|DNAJC16_uc001awt.3_Silent_p.F239F|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	551					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCATCCTCTTCGGCACTGTCA	0.428000														247			153		0	0	0.000781405	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413718	26413719	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:26413718_26413719CC>TT	uc003nhv.3	+	9	1708_1709	c.1340_1341CC>TT	c.(1339-1341)ccc>cTT	p.P447L	BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Missense_Mutation_p.P395L	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	447	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTAACTGAGCCCAGAACCAACC	0.475000														65			43		0	0	6.4e-05	0	0
C7orf58	79974	broad.mit.edu	37	7	120767263	120767263	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:120767263C>T	uc003vjq.4	+	9	1701	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	C7orf58_uc003vjr.1_Silent_p.S418S|C7orf58_uc003vjs.4_Silent_p.S418S|C7orf58_uc003vjt.4_Silent_p.S198S|C7orf58_uc010lkk.2_Silent_p.S198S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	418						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CATCACTTTCCATATTTTCTG	0.284000														61			11		0	0	0.00185496	0	0
RNPEP	6051	broad.mit.edu	37	1	201972397	201972397	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:201972397G>A	uc001gxd.3	+	8	1488	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	RNPEP_uc001gxe.3_Missense_Mutation_p.G188S	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	487					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAATACCCCCGGCTGGCCCCC	0.547000														24			12		0	0	0.00136819	0	0
FRS2	10818	broad.mit.edu	37	12	69965945	69965945	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:69965945C>T	uc001suy.3	+	8	970	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	FRS2_uc001suz.3_Missense_Mutation_p.P154S|FRS2_uc009zrj.3_Missense_Mutation_p.P154S|FRS2_uc009zrk.3_Missense_Mutation_p.P154S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	154					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCCCGATATCCCTCATTTGG	0.478000														19			29		0	0	0.00127121	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163784	161163784	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:161163784G>A	uc001fyt.4	-	4	1917	c.1489C>T	c.(1489-1491)Ccc>Tcc	p.P497S		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	497	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTGTGCGGGCCCGCAGGGT	0.672000														22			15		0	0	0.000566183	0	0
MRVI1	10335	broad.mit.edu	37	11	10647940	10647940	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:10647940C>T	uc010rcc.1	-	8	1327	c.941G>A	c.(940-942)gGg>gAg	p.G314E	MRVI1_uc010rcb.1_Missense_Mutation_p.G306E|MRVI1_uc001miw.2_Missense_Mutation_p.G305E|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.G223E|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	287					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCCATTTTCCCACTGCTGTT	0.562000														5			10		0	0	0.000978159	0	0
TAAR6	319100	broad.mit.edu	37	6	132891606	132891606	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:132891606G>A	uc011eck.2	+	0	146	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	49						plasma membrane	G-protein coupled receptor activity	p.G49R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCTGTGTTTGGAAACCTCCTG	0.527000														26			29		0	0	0.000339439	0	0
ADAM7	8756	broad.mit.edu	37	8	24349461	24349461	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:24349461G>A	uc003xeb.3	+	13	1515	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	ADAM7_uc003xec.3_Missense_Mutation_p.D240N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	468	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGATGAATGTGATTTTCCTGA	0.443000														31			16		0	0	0.000308642	0	0
VWA3A	146177	broad.mit.edu	37	16	22130236	22130237	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:22130236_22130237GG>AA	uc010vbq.2	+	11	1100_1101	c.1004_1005GG>AA	c.(1003-1005)cgg>cAA	p.R335Q	VWA3A_uc010bxd.3_5'Flank|VWA3A_uc010bxc.2_Missense_Mutation_p.R322Q	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	335						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TACACCAGCCGGGACATGGATG	0.604000														24			10		0	0	6.4e-05	0	0
CCDC37	348807	broad.mit.edu	37	3	126154442	126154442	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:126154442G>A	uc010hsg.1	+	14	1731	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	CCDC37_uc003eiu.1_Missense_Mutation_p.E557K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	557										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GATCCTACAGGAGGAGCATCT	0.582000														44			11		0	0	0.00074312	0	0
RIMS1	22999	broad.mit.edu	37	6	72968727	72968727	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:72968727C>T	uc003pga.3	+	17	3043	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	RIMS1_uc011dyb.2_Missense_Mutation_p.S614F|RIMS1_uc003pgc.3_Missense_Mutation_p.S615F|RIMS1_uc010kaq.3_Missense_Mutation_p.S462F|RIMS1_uc011dyc.2_Missense_Mutation_p.S463F|RIMS1_uc010kar.3_Missense_Mutation_p.S382F|RIMS1_uc011dyd.2_Missense_Mutation_p.S448F|RIMS1_uc003pge.3_Missense_Mutation_p.S206F|RIMS1_uc003pgf.3_Missense_Mutation_p.S205F|RIMS1_uc003pgi.3_Missense_Mutation_p.S205F|RIMS1_uc003pgg.3_Missense_Mutation_p.S206F|RIMS1_uc003pgh.3_Missense_Mutation_p.S205F|RIMS1_uc003pgd.3_Missense_Mutation_p.S206F|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.S615F|RIMS1_uc010kas.1_Missense_Mutation_p.S448F	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	989					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S989S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGTCACGTTCTCCAACCAGA	0.383000														69			36		0	0	0.000814825	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71187172	71187172	+	Silent	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:71187172C>T	uc002shj.3	+	5	636	c.549C>T	c.(547-549)atC>atT	p.I183I	ATP6V1B1_uc002shi.1_Silent_p.I183I|ATP6V1B1_uc010fdx.3_Silent_p.I141I	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	183					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCCAGAAGATCCCCATCTTCT	0.627000														30			7		0	0	8.12818e-05	0	0
EPS8	2059	broad.mit.edu	37	12	15811501	15811501	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:15811501C>A	uc009zif.3	-	10	1050	c.956G>T	c.(955-957)cGg>cTg	p.R319L	EPS8_uc001rdb.3_Missense_Mutation_p.R319L|EPS8_uc009zig.3_Missense_Mutation_p.R59L|EPS8_uc010shv.2_Missense_Mutation_p.R59L	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	319					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	p.R319L(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGTTTTGCCCGCAGCGTTAA	0.348000														141			8		0.000442599	0.00270395	0.000442599	1	0
PTPRR	5801	broad.mit.edu	37	12	71148001	71148001	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:71148001G>T	uc001swi.2	-	4	1122	c.708C>A	c.(706-708)agC>agA	p.S236R	PTPRR_uc001swh.2_5'UTR|PTPRR_uc009zrs.3_Missense_Mutation_p.S30R|PTPRR_uc010stq.2_Missense_Mutation_p.S124R|PTPRR_uc010str.1_Missense_Mutation_p.S85R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	236					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TAACAAAGATGCTGAGAAAAA	0.353000														9			19		1.64113e-05	0.000100634	0.00152264	1	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054206	106054206	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:106054206G>A	uc001yrt.3	-	2	362	c.331C>T	c.(331-333)Cca>Tca	p.P111S	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGGGGAGGTGGGGGAACTGGA	0.682000														5			5		0	0	8.12818e-05	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808853	18808853	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:18808853G>A	uc001bax.3	+	0	1430	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E242K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	460						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGATGAGCGAAAACTACCT	0.642000														31			27		0	0	0.000878237	0	0
MYH15	22989	broad.mit.edu	37	3	108149770	108149770	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:108149770C>T	uc003dxa.1	-	27	3339	c.3282_splice	c.e27-1	p.K1094_splice		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1094						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TAATTCTTTTCTGTTTAGAAA	0.299000														23			21		0	0	0.00152264	0	0
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:71508370delA	uc003pfr.3	+	5	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													---	6	---	---	3	---					
CKAP2	26586	broad.mit.edu	37	13	53048016	53048016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:53048016delT	uc001vgv.2	+	7	1799	c.1602delT	c.(1600-1602)agtfs	p.S534fs	CKAP2_uc001vgu.2_Frame_Shift_Del_p.S533fs|CKAP2_uc010tha.1_Frame_Shift_Del_p.S485fs	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	534					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAGAAGTCAGTATTGAAGATA	0.323													---	42	---	---	35	---					
WWP2	11060	broad.mit.edu	37	16	69973005	69973005	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:69973005delG	uc002exu.1	+	22	2508	c.2419delG	c.(2419-2421)gggfs	p.G807fs	WWP2_uc002exv.1_Frame_Shift_Del_p.G807fs|WWP2_uc010vlm.1_Frame_Shift_Del_p.G691fs|WWP2_uc010vln.1_Frame_Shift_Del_p.G425fs|WWP2_uc002exw.1_Frame_Shift_Del_p.G368fs	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	807	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCCCGTCGGGGGATTTGC	0.597													---	4	---	---	2	---					
TBC1D17	79735	broad.mit.edu	37	19	50390749	50390750	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:50390749_50390750delCT	uc002pqo.3	+	13	1760_1761	c.1461_1462delCT	c.(1459-1464)ggctctfs	p.G487fs	TBC1D17_uc010ybg.2_Frame_Shift_Del_p.G454fs|TBC1D17_uc002pqp.3_Frame_Shift_Del_p.G138fs|TBC1D17_uc002pqr.3_Frame_Shift_Del_p.G138fs|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR|MIR4750_uc021uxz.1_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGGACTCCGGCTCTCTCTGCTT	0.594													---	18	---	---	9	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	6	---	---	3	---