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
ZNF33B	7582	broad.mit.edu	37	10	43088258	43088258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:43088258C>T	uc001jaf.1	-	4	2255	c.2140G>A	c.(2140-2142)Gct>Act	p.A714T	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.A602T|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	714						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCTGTGTGAGCCCTGTGATGT	0.403000														32			40		0	0	0.006999	0	0
C8orf47	203111	broad.mit.edu	37	8	99102126	99102126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:99102126G>A	uc003yih.1	+	1	1029	c.881G>A	c.(880-882)gGa>gAa	p.G294E	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	294	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAAGGTCCAGGAAACATGGAG	0.433000														39			11		0	0	0.000978	0	0
RENBP	5973	broad.mit.edu	37	X	153206955	153206955	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:153206955A>C	uc004fjo.2	-	7	1091	c.921T>G	c.(919-921)gaT>gaG	p.D307E	RENBP_uc011mzh.1_3'UTR	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	307					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGTTATCAGCATCCTGGAAGT	0.582000														95			28		0	0	0.008361	0	0
CROCC	9696	broad.mit.edu	37	1	17256819	17256819	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:17256819C>T	uc001azt.2	+	5	729	c.660C>T	c.(658-660)atC>atT	p.I220I	CROCC_uc009voy.1_5'UTR|CROCC_uc009voz.1_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	220					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGCCCTCATCCGGCTGGAGG	0.677000														15			6		0	0	0.001984	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633863	153633863	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:153633863G>A	uc004fks.1	-	1	238	c.47C>T	c.(46-48)gCc>gTc	p.A16V	DNASE1L1_uc004fkt.1_Missense_Mutation_p.A16V|DNASE1L1_uc004fku.1_Missense_Mutation_p.A16V|DNASE1L1_uc004fkv.1_Missense_Mutation_p.A16V|DNASE1L1_uc004fkw.1_Missense_Mutation_p.A16V	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	16					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGGCCTGGGCCCCATTGGC	0.617000														9			4		0	0	0.009096	0	0
KIF16B	55614	broad.mit.edu	37	20	16355048	16355048	+	Silent	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:16355048T>C	uc002wpg.2	-	19	3363	c.3204A>G	c.(3202-3204)gaA>gaG	p.E1068E	KIF16B_uc002wpe.1_Silent_p.E450E|KIF16B_uc002wpf.1_Silent_p.E450E|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Silent_p.E1068E	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1068	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGATTTCATATTCTAACCTAC	0.428000														74			35		0	0	0.005524	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101284693	101284693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:101284693G>A	uc003duz.3	+	1	1216	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	RG9MTD1_uc021xbw.1_Missense_Mutation_p.M356I	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	356					tRNA processing	mitochondrion	methyltransferase activity|protein binding	p.M356I(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						TAGATCAAATGATACGTATTT	0.378000														28			8		0	0	0.004482	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873959	48873959	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:48873959G>A	uc002rwp.2	+	7	2982	c.2868G>A	c.(2866-2868)caG>caA	p.Q956Q	STON1-GTF2A1L_uc021vhf.1_Silent_p.Q956Q|STON1-GTF2A1L_uc010yol.2_Silent_p.Q909Q|STON1-GTF2A1L_uc002rws.2_Silent_p.Q252Q|STON1-GTF2A1L_uc010yom.2_Silent_p.Q218Q	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	909					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCTCCACAGGTCTCTCAAA	0.448000														42			9		0	0	0.008291	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845381	106845381	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:106845381C>T	uc022cce.1	+	0	1747	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1404	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGTGGTGTTTCGTGCCTGACC	0.617000														61			34		0	0	0.003755	0	0
ZNF536	9745	broad.mit.edu	37	19	31039854	31039854	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:31039854G>A	uc002nsu.1	+	3	3466	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N	ZNF536_uc010edd.1_Missense_Mutation_p.D1110N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTCCCATCAGACTTCTACAA	0.557000														42			31		0	0	0.002096	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259915	40259915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:40259915G>A	uc001zkm.1	+	8	1438	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	EIF2AK4_uc001zkl.3_Missense_Mutation_p.R463Q|EIF2AK4_uc010bbj.1_Missense_Mutation_p.R192Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	463	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGCAAACCCGAGTTCGTTTT	0.488000														55			24		0	0	0.003330	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171442	39171442	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:39171442G>A	uc004abi.3	-	7	1496	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CNTNAP3_uc004abj.3_Silent_p.F419F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F419F|CNTNAP3_uc011lqs.1_Silent_p.F419F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	419	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGAGGACGAAACTCCCTG	0.483000														35			31		0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179479461	179479461	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179479461G>A	uc021vsy.1	-	209	41301	c.41076C>T	c.(41074-41076)ctC>ctT	p.L13692L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Silent_p.L7387L|TTN_uc021vta.1_Silent_p.L7320L|TTN_uc021vtb.1_Silent_p.L7195L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14619	Ig-like 93.						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)			GCTTCACATCGAGGAAGATTT	0.408000														20			11		0	0	0.001368	0	0
GLS	2744	broad.mit.edu	37	2	191795258	191795258	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:191795258G>T	uc002usf.2	+	12	1785	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	GLS_uc002use.2_Missense_Mutation_p.K507N|GLS_uc002usg.1_Missense_Mutation_p.K168N|GLS_uc002ush.2_Missense_Mutation_p.K168N|GLS_uc010zgi.1_Missense_Mutation_p.K78N|GLS_uc010zgj.1_Missense_Mutation_p.K12N|GLS_uc021vud.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	507					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCTGGATAAGATGGGCAACA	0.398000														43			43		1.00001e-27	1.12281e-27	0.009718	1	0
KCNJ6	3763	broad.mit.edu	37	21	39087108	39087108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:39087108G>A	uc011aej.1	-	2	405	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	KCNJ6_uc002ywo.2_Missense_Mutation_p.R118W	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	118					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATGTCTCCCCGTATGTATGCG	0.453000														83			19		0	0	0.010504	0	0
DKK2	27123	broad.mit.edu	37	4	107845814	107845814	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:107845814G>A	uc003hyi.3	-	2	1122	c.417C>T	c.(415-417)atC>atT	p.I139I	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.I139I	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	139					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCAGAGCCGGGATGTGAGGGG	0.428000														78			21		0	0	0.002780	0	0
NOXRED1	122945	broad.mit.edu	37	14	77861085	77861085	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:77861085G>A	uc001xtr.3	-	5	1136	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	323					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						GACTACTTGAGAGATGCTGGC	0.443000														35			38		0	0	0.007835	0	0
OR2H1	26716	broad.mit.edu	37	6	29430220	29430220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:29430220G>A	uc003nmi.3	+	2	1117	c.674G>A	c.(673-675)aGg>aAg	p.R225K	OR2H1_uc003nmj.1_Missense_Mutation_p.R225K|OR2H1_uc010jri.2_Missense_Mutation_p.R147K|OR2H1_uc021ytr.1_Missense_Mutation_p.R225K	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCAGTGCTGAGGATTAACTCT	0.532000														106			56		0	0	0.003610	0	0
VNN2	8875	broad.mit.edu	37	6	133072552	133072552	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:133072552G>A	uc003qdt.3	-	4	943	c.932C>T	c.(931-933)tCg>tTg	p.S311L	VNN2_uc003qds.3_Missense_Mutation_p.S20L|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.S258L	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	311	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.S311S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAGGCAAGCGAGGATAGGGG	0.438000														30			40		0	0	0.003214	0	0
VGLL3	389136	broad.mit.edu	37	3	87027686	87027686	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:87027686G>A	uc003dqn.3	-	1	757	c.393C>T	c.(391-393)ccC>ccT	p.P131P		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CTCGCCATAGGGGGGTTAGCC	0.512000														78			23		0	0	0.003954	0	0
SPEG	10290	broad.mit.edu	37	2	220333912	220333912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:220333912G>A	uc010fwg.3	+	12	3526	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1176					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATTCCCGAGGAGCCAGAGCA	0.662000														20			12		0	0	0.001368	0	0
OR4D6	219983	broad.mit.edu	37	11	59224654	59224654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:59224654C>T	uc010rku.2	+	0	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATCGTTTTTTCATCTATCACC	0.453000														87			45		0	0	0.009718	0	0
ZNF365	22891	broad.mit.edu	37	10	64136385	64136385	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:64136385G>A	uc001jmc.2	+	1	748	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	ZNF365_uc001jly.4_Missense_Mutation_p.G160S|ZNF365_uc001jmb.4_Missense_Mutation_p.G145S|ZNF365_uc001jlz.4_Missense_Mutation_p.G145S|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	204										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GACACGGTCGGGTCCTGGACT	0.537000														21			30		0	0	0.008361	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326429	15326429	+	RNA	SNP	A	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:15326429A>T	uc002yji.2	-	1		c.786T>A								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TTTCCATGGGAAGGTCCACGT	0.393000														62			23		0	0	0.007291	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103185	38103185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:38103185C>T	uc002ogq.3	+	4	1371	c.1004C>T	c.(1003-1005)gCt>gTt	p.A335V	LOC100507433_uc002ogu.3_Missense_Mutation_p.A335V|LOC100507433_uc010efq.3_Missense_Mutation_p.A303V	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		TGTGGGAAAGCTTTTAGTGTA	0.348000														28			22		0	0	0.003330	0	0
SNX16	64089	broad.mit.edu	37	8	82736160	82736160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:82736160G>A	uc003ycn.3	-	3	739	c.478C>T	c.(478-480)Cca>Tca	p.P160S	SNX16_uc003yco.3_Missense_Mutation_p.P131S|SNX16_uc011lft.2_Missense_Mutation_p.P160S	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	160	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CGAAAACCTGGAAACATCTCT	0.328000														22			9		0	0	0.008291	0	0
PCP4	5121	broad.mit.edu	37	21	41300949	41300949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:41300949G>A	uc002yyp.3	+	2	183	c.102G>A	c.(100-102)atG>atA	p.M34I		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	34					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ACATTGACATGGATGCACCAG	0.463000														48			20		0	0	0.008871	0	0
EMP3	2014	broad.mit.edu	37	19	48833692	48833692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:48833692G>A	uc002piv.2	+	4	711	c.457G>A	c.(457-459)Ggc>Agc	p.G153S		NM_001425	NP_001416	P54852	EMP3_HUMAN	Homo sapiens epithelial membrane protein 3 (EMP3), mRNA.	153					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTGGTCAGCGGCATCATCTA	0.697000														27			24		0	0	0.006320	0	0
KCNK5	8645	broad.mit.edu	37	6	39159037	39159037	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:39159037C>G	uc003oon.3	-	4	1493	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	377					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCCGTGCCACAGCCTCCTCA	0.612000														40			12		0	0	0.001368	0	0
MAOA	4128	broad.mit.edu	37	X	43571120	43571120	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:43571120G>A	uc004dfy.3	+	4	488	c.307_splice	c.e4-1	p.G103_splice	MAOA_uc011mkw.2_Splice_Site	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	103					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	ATGTTCTAGGGGAAAACATAT	0.363000														112			17		0	0	0.004990	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458414	45458415	+	RNA	DNP	CA	AT	AT			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:45458414_45458415CA>AT	uc001rol.3	-	0		c.780_781TG>AT								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GCTCCTGGTCCAGTATGGCACA	0.520000														10			10		0	0	0.004672	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120576	120576	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrGL000209.1:120576G>A	uc010yie.2	+	3	539	c.528G>A	c.(526-528)aaG>aaA	p.K176K	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Silent_p.K173K|KIR2DL2_uc002qum.3_Silent_p.K176K	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	176	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CAGGGACCAAGGTCAACGGAA	0.572000														114			36		0	0	0.004289	0	0
KRT5	3852	broad.mit.edu	37	12	52913597	52913597	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:52913597G>A	uc001san.3	-	0	647	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	KRT5_uc009zmh.3_Nonsense_Mutation_p.Q162*	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	162	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCACCCTCTGGATGCTGGGG	0.532000														39			62		0	0	0.003610	0	0
MEFV	4210	broad.mit.edu	37	16	3306468	3306468	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:3306468G>A	uc002cun.1	-	0	160	c.120C>T	c.(118-120)atC>atT	p.I40I	MEFV_uc021tbw.1_Silent_p.I40I|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	40	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCTCCGGGGGATCCTGGAGT	0.592000														73			52		0	0	0.003610	0	0
ATP2B3	492	broad.mit.edu	37	X	152815568	152815568	+	Silent	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:152815568C>A	uc004fht.1	+	9	1773	c.1647C>A	c.(1645-1647)ggC>ggA	p.G549G	ATP2B3_uc004fhs.1_Silent_p.G549G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	549					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGCTGGGCTTCGTCTTGG	0.617000														24			9		0.00448238	0.00474169	0.004482	1	0
ARSI	340075	broad.mit.edu	37	5	149676950	149676950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:149676950G>A	uc003lrv.2	-	1	2126	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	513						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAAGTCAGGATGAGCCCGG	0.637000														84			62		0	0	0.003610	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489115	73489115	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:73489115C>T	uc010wsa.2	+	14	2240	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F	KIAA0195_uc002jnz.4_Missense_Mutation_p.S673F|KIAA0195_uc010wsb.2_Missense_Mutation_p.S313F|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	673					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCGGCTCTCCTGTGTCACC	0.612000														58			37		0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179598554	179598554	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179598554G>T	uc021vsy.1	-	49	12055	c.11830C>A	c.(11830-11832)Caa>Aaa	p.Q3944K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q605K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4871							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)			ACAGCAGCTTGCAGGGTAACG	0.413000														74			21		2.89027e-11	3.18926e-11	0.002299	1	0
NUMA1	4926	broad.mit.edu	37	11	71730594	71730594	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:71730594C>G	uc001orl.1	-	8	702	c.530G>C	c.(529-531)aGg>aCg	p.R177T	NUMA1_uc001ork.1_Missense_Mutation_p.R177T|NUMA1_uc001orm.1_Missense_Mutation_p.R177T|NUMA1_uc009ysx.1_Missense_Mutation_p.R177T|NUMA1_uc001oro.1_Missense_Mutation_p.R177T|NUMA1_uc009ysy.2_Missense_Mutation_p.R177T|NUMA1_uc001orp.3_Missense_Mutation_p.R177T|NUMA1_uc001orq.3_Missense_Mutation_p.R177T|NUMA1_uc021qmw.1_Missense_Mutation_p.R177T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	177					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R177K(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGAATCTCCCTCTTGGCCTG	0.522000			T	RARA	APL									184			23		0	0	0.002299	0	0
CTSG	1511	broad.mit.edu	37	14	25043691	25043691	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:25043691G>A	uc001wpq.3	-	3	391	c.354C>T	c.(352-354)gtC>gtT	p.V118V		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	118	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GATTCCGTCTGACTCTTCTGC	0.642000														94			21		0	0	0.001882	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140358562	140358562	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140358562A>C	uc003lii.3	+	1	3199	c.2594A>C	c.(2593-2595)tAc>tCc	p.Y865S	PCDHAC2_uc003lha.2_Missense_Mutation_p.Y544S|PCDHAC2_uc003lhb.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhd.2_Missense_Mutation_p.Y806S|PCDHAC2_uc003lhf.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhh.1_Missense_Mutation_p.Y805S|PCDHAC2_uc003lhi.2_Missense_Mutation_p.Y805S|PCDHAC2_uc003lhl.2_Missense_Mutation_p.Y794S|PCDHAC2_uc003lhk.1_Missense_Mutation_p.Y794S|PCDHAC2_uc003lho.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhn.2_Missense_Mutation_p.Y544S|PCDHAC2_uc003lhq.2_Missense_Mutation_p.Y795S|PCDHAC2_uc003lhs.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhu.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhw.2_Missense_Mutation_p.Y543S|PCDHAC2_uc003lhx.2_Missense_Mutation_p.Y806S|PCDHAC2_uc003lia.2_Missense_Mutation_p.Y807S|PCDHAC2_uc003lic.2_Missense_Mutation_p.Y799S|PCDHAC2_uc003lif.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lie.1_Missense_Mutation_p.Y808S|PCDHAC2_uc003lih.2_Missense_Mutation_p.Y821S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	865	4 X 4 AA repeats of P-X-X-P.				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)			GACTGGCGTTACTCTGCCTCC	0.458000														63			16		0	0	0.004990	0	0
C15orf54	400360	broad.mit.edu	37	15	39544531	39544531	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:39544531C>T	uc001zkg.2	+	1	563	c.195C>T	c.(193-195)ttC>ttT	p.F65F	C15orf54_uc021sjb.1_Silent_p.F65F	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	65										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CTCTCAGGTTCCTTTACATCG	0.438000														139			47		0	0	0.003610	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523327	70523327	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:70523327C>T	uc004dzr.1	+	5	458	c.429C>T	c.(427-429)atC>atT	p.I143I	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Silent_p.I125I	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	143					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					ACAGTCTGATCCGGACTGGTT	0.502000														42			14		0	0	0.004990	0	0
F8	2157	broad.mit.edu	37	X	154215575	154215575	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:154215575G>A	uc004fmt.3	-	4	778	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	203	F5/8 type A 1.				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)	TCCTTGGCCAGACTCCCTGAA	0.348000														26			9		0	0	0.006214	0	0
SP140	11262	broad.mit.edu	37	2	231110646	231110646	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:231110646G>A	uc002vql.3	+	6	848	c.733G>A	c.(733-735)Gat>Aat	p.D245N	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.D245N|SP140_uc002vqn.3_Missense_Mutation_p.D242N|SP140_uc002vqm.3_Intron|SP140_uc010fxl.3_Missense_Mutation_p.D245N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	245					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTGCCTTATGATACAGAAGG	0.363000														22			6		0	0	0.001168	0	0
ZNF630	57232	broad.mit.edu	37	X	47918858	47918858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:47918858C>T	uc004div.4	-	4	1225	c.973G>A	c.(973-975)Gga>Aga	p.G325R	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.G311R|ZNF630_uc022bvs.1_Missense_Mutation_p.G325R	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AATGCTCTTCCATACTTAGTA	0.438000														43			15		0	0	0.004007	0	0
ACOX3	8310	broad.mit.edu	37	4	8418200	8418200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:8418200G>A	uc010idk.3	-	1	194	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ACOX3_uc003glc.4_Missense_Mutation_p.P17S|ACOX3_uc003gld.4_Missense_Mutation_p.P17S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	17					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGCCCCCTGGGGAATTCTGGG	0.587000														41			12		0	0	0.000978	0	0
GAS2	2620	broad.mit.edu	37	11	22707235	22707235	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:22707235C>G	uc009yie.3	+	2	473	c.167C>G	c.(166-168)aCt>aGt	p.T56S	GAS2_uc001mqm.3_Missense_Mutation_p.T56S|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.T56S	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	56	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						ACAGCAGAAACTTTTATGGAG	0.363000														55			28		0	0	0.009535	0	0
PLCB4	5332	broad.mit.edu	37	20	9449296	9449296	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:9449296C>G	uc021wam.1	+	31	3306	c.3291C>G	c.(3289-3291)atC>atG	p.I1097M	PLCB4_uc010gbx.3_Missense_Mutation_p.I1109M|PLCB4_uc021wal.1_Missense_Mutation_p.I1097M|PLCB4_uc002wnh.3_Missense_Mutation_p.I944M	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1097					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAAATCTATCAAGAATAAAG	0.388000														87			9		0	0	0.004482	0	0
LGR6	59352	broad.mit.edu	37	1	202288196	202288196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:202288196G>A	uc001gxu.3	+	17	2765	c.2765G>A	c.(2764-2766)gGg>gAg	p.G922E	LGR6_uc001gxv.3_Missense_Mutation_p.G870E|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.G783E	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	922						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGCCAGAGGGGAACCACTTT	0.642000														38			31		0	0	0.009535	0	0
GLI2	2736	broad.mit.edu	37	2	121746991	121746991	+	Silent	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:121746991T>A	uc010flp.3	+	12	3531	c.3501T>A	c.(3499-3501)ccT>ccA	p.P1167P	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.P839P|GLI2_uc002tmu.4_Silent_p.P822P	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1167					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACCCTTTCCTCAGGGCAACC	0.627000														13			14		0	0	0.002450	0	0
ADAM18	8749	broad.mit.edu	37	8	39467023	39467023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:39467023G>A	uc003xni.3	+	4	342	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ADAM18_uc003xnh.3_Missense_Mutation_p.G96E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G96E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	96					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTACCAAGGATATGCTGCC	0.328000														20			14		0	0	0.004007	0	0
COL9A2	1298	broad.mit.edu	37	1	40777385	40777385	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:40777385C>T	uc001cfh.1	-	8	532	c.420G>A	c.(418-420)ggG>ggA	p.G140G	COL9A2_uc001cfi.1_5'UTR	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	140	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GTCCAGGGTCCCCCTGGAAGC	0.617000														53			38		0	0	0.004878	0	0
FCRL2	79368	broad.mit.edu	37	1	157745580	157745580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:157745580C>T	uc001fre.2	-	1	96	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	FCRL2_uc010phz.1_Missense_Mutation_p.V13I|FCRL2_uc009wsp.2_Missense_Mutation_p.V13I|FCRL2_uc010pia.1_Missense_Mutation_p.V13I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	13					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCAGTGACTGCATCTGTG	0.428000														27			13		0	0	0.004007	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100533320	100533320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:100533320G>A	uc002bvv.1	-	19	2961	c.2882C>T	c.(2881-2883)cCg>cTg	p.P961L		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	961	TSP type-1 4.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCGGCTCTCGGCCTCGTGGA	0.597000														55			39		0	0	0.004878	0	0
COL4A5	1287	broad.mit.edu	37	X	107858227	107858227	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:107858227G>A	uc022ccg.1	+	29	2684	c.2482G>A	c.(2482-2484)Ggg>Agg	p.G828R	COL4A5_uc004enz.1_Missense_Mutation_p.G828R|COL4A5_uc004eob.1_Missense_Mutation_p.G436R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	828	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P827Q(1)|p.G828D(1)|p.G828G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGACCACCAGGGATTCCTGG	0.433000									Alport syndrome with Diffuse Leiomyomatosis					45			17		0	0	0.007413	0	0
ECE2	9718	broad.mit.edu	37	3	183967668	183967668	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:183967668C>T	uc003fni.4	+	0	224	c.186C>T	c.(184-186)atC>atT	p.I62I	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.4_Silent_p.I62I	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	62	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGACCGTATCCTTGTGCTAG	0.677000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			26		0	0	0.007291	0	0
SUGP2	10147	broad.mit.edu	37	19	19135734	19135734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:19135734G>A	uc002nkz.1	-	2	1485	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F	SUGP2_uc002nkx.2_Missense_Mutation_p.L475F|SUGP2_uc002nla.1_Missense_Mutation_p.L475F|SUGP2_uc002nlb.2_Missense_Mutation_p.L475F|SUGP2_uc010xqk.1_Missense_Mutation_p.L244F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	475					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCCGGCAGAGAGAGTTGGTG	0.507000														125			101		0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840343	47840343	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:47840343T>A	uc003tny.2	-	53	8131	c.8097A>T	c.(8095-8097)aaA>aaT	p.K2699N	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2699					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGGCAGTCTTTTTGGCTTC	0.507000														119			5		0	0	0.001168	0	0
MSR1	4481	broad.mit.edu	37	8	16007770	16007770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:16007770G>A	uc010lsu.3	-	6	1067	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	MSR1_uc003wwz.3_Nonsense_Mutation_p.R317*|MSR1_uc003wxa.3_Nonsense_Mutation_p.R317*|MSR1_uc003wxb.3_Nonsense_Mutation_p.R317*|MSR1_uc011kxz.2_Nonsense_Mutation_p.R91*	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	317	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGGAGTCCTCGACTTCCAGGA	0.358000														38			17		0	0	0.007413	0	0
NR5A2	2494	broad.mit.edu	37	1	200089940	200089940	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:200089940A>G	uc001gvb.3	+	6	1441	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	NR5A2_uc001gvc.3_Missense_Mutation_p.D366G|NR5A2_uc009wzh.3_Missense_Mutation_p.D372G|NR5A2_uc010pph.2_Missense_Mutation_p.D340G	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	412					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTGCAGGTGGACTATTCCATA	0.413000														27			16		0	0	0.004007	0	0
USP49	25862	broad.mit.edu	37	6	41773651	41773651	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:41773651G>A	uc003ori.3	-	3	1293	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	357					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602000														76			32		0	0	0.003271	0	0
MST1P9	11223	broad.mit.edu	37	1	17084510	17084510	+	Silent	SNP	G	A	A	rs61769731	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:17084510G>A	uc010ock.2	-	11	1588	c.1588C>T	c.(1588-1590)Cta>Tta	p.L530L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L525L(2)|p.L530L(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCGCTGTAGGCCTGGCTCT	0.577000														88			14		0	0	0.001855	0	0
HEG1	57493	broad.mit.edu	37	3	124720797	124720797	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:124720797G>A	uc011bke.2	-	11	3784	c.3716C>T	c.(3715-3717)aCg>aTg	p.T1239M	HEG1_uc003ehr.4_5'UTR|HEG1_uc003ehs.4_Missense_Mutation_p.T1139M	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1139						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTCAAATAGCGTCACATTGGA	0.498000														23			11		0	0	0.000978	0	0
PAPLN	89932	broad.mit.edu	37	14	73727416	73727416	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:73727416G>A	uc010ttx.2	+	16	2149	c.1986_splice	c.e16-1	p.R662_splice	PAPLN_uc001xnw.4_Splice_Site_p.R635_splice|PAPLN_uc010arl.3_Splice_Site|PAPLN_uc010ttw.2_Splice_Site|PAPLN_uc010tty.2_Splice_Site_p.R662_splice|PAPLN_uc010arm.3_5'Flank|PAPLN_uc010arn.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	662						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGTCTGCCTAGGTACGGGTGC	0.667000														40			23		0	0	0.002780	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117444	117444	+	RNA	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrGL000205.1:117444G>T	uc002kgk.4	+	0		c.822G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CCCTCACCAGGGAAGACCTGG	0.557000														37			11		5.50884e-06	5.95885e-06	0.001368	1	0
C4orf37	285555	broad.mit.edu	37	4	99064228	99064228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:99064228G>A	uc003htt.2	-	0	164	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	25										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TACCTGGTAGGATCCAGGACC	0.597000											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			12		0	0	0.001368	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					30			186		0	0	0.003610	0	0
GMEB2	26205	broad.mit.edu	37	20	62221685	62221685	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:62221685G>A	uc002yfp.1	-	8	1829	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	GMEB2_uc002yfo.1_Silent_p.D372D|GMEB2_uc002yfq.1_Silent_p.D450D	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	450					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGCTGGACGCGTCCGGGTGGA	0.697000														28			5		0	0	0.000602	0	0
OR5B17	219965	broad.mit.edu	37	11	58125658	58125658	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:58125658C>T	uc010rke.2	-	0	885	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D294Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCTTCACGTCTTTGT	0.373000														65			52		0	0	0.003610	0	0
FAF1	11124	broad.mit.edu	37	1	51204578	51204578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:51204578G>A	uc001cse.1	-	5	961	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	FAF1_uc009vyw.1_Non-coding_Transcript	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	170					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTGGTGTAAGGACATAAAGA	0.343000														23			7		0	0	0.004482	0	0
SGOL2	151246	broad.mit.edu	37	2	201436531	201436531	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:201436531C>T	uc002uvw.2	+	6	1575	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	SGOL2_uc010zhd.1_Silent_p.L488L|SGOL2_uc010zhe.1_Silent_p.L488L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	488					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGAAAATGTACTGTGTAATAA	0.368000														92			73		0	0	0.003610	0	0
ACOT11	26027	broad.mit.edu	37	1	55062987	55062987	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:55062987G>A	uc001cxm.2	+	6	839	c.663G>A	c.(661-663)gaG>gaA	p.E221E	ACOT11_uc001cxj.2_Silent_p.E99E|ACOT11_uc001cxk.3_Silent_p.E187E|ACOT11_uc001cxl.2_Silent_p.E221E	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	221	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCGTGTGGAGAGTGTGGAGC	0.602000														19			20		0	0	0.008871	0	0
THSD7B	80731	broad.mit.edu	37	2	137872745	137872745	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:137872745C>T	uc002tva.1	+	3	1158	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.L276L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCTCCTCCTCGAGCAGCAGG	0.512000														32			12		0	0	0.001855	0	0
LOC100124692	100124692	broad.mit.edu	37	7	141896582	141896582	+	RNA	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:141896582C>T	uc003vxa.2	+	12		c.1518C>T								Homo sapiens maltase-glucoamylase (alpha-glucosidase) pseudogene (LOC100124692), non-coding RNA.																		GCATTTTATCCATTTTCCAGA	0.458000														24			5		0	0	0.001168	0	0
MRPS11	64963	broad.mit.edu	37	15	89015874	89015874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:89015874C>T	uc002bml.3	+	2	464	c.199C>T	c.(199-201)Cca>Tca	p.P67S	MRPS11_uc002bmm.3_Intron|MRPS11_uc002bmn.3_Missense_Mutation_p.P66S|MRPS11_uc010bnj.3_Non-coding_Transcript	NM_022839	NP_073750	P82912	RT11_HUMAN	Homo sapiens mitochondrial ribosomal protein S11 (MRPS11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCCTCCCATTCCAGGAGAGGA	0.373000														33			8		0	0	0.008291	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506979	167506979	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:167506979C>T	uc003ffa.4	+	1	261	c.63C>T	c.(61-63)ttC>ttT	p.F21F	SERPINI1_uc003ffb.4_Silent_p.F21F	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	21					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGGCCACTTTCCCTGAGGAAG	0.408000														32			31		0	0	0.002096	0	0
ZNF160	90338	broad.mit.edu	37	19	53572054	53572054	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:53572054G>A	uc010eqk.3	-	6	2149	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	ZNF160_uc002qaq.4_Missense_Mutation_p.S578L|ZNF160_uc002qar.4_Missense_Mutation_p.S578L	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	578					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCAAGTTGTGATGTTTGAGC	0.403000														53			33		0	0	0.004878	0	0
CCDC116	164592	broad.mit.edu	37	22	21989511	21989511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:21989511C>T	uc002zve.3	+	3	1252	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	CCDC116_uc011aih.1_Missense_Mutation_p.P387S	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	387										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AGGAGGCTCCCCCTCCATGTC	0.607000														21			7		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13864629	13864629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:13864629C>T	uc003jfd.2	-	27	4515	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1491	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCGCTCCATCATGGCTTTAC	0.502000									Kartagener syndrome					36			8		0	0	0.003080	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384138	62384138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:62384138G>A	uc001ntw.3	-	3	977	c.749C>T	c.(748-750)cCt>cTt	p.P250L	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.P243L|B3GAT3_uc010rlz.2_Missense_Mutation_p.P250L	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	250					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CATATCCACAGGGAAGGGCCT	0.642000														31			27		0	0	0.006320	0	0
KCNN3	3782	broad.mit.edu	37	1	154698427	154698427	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:154698427G>A	uc021pah.1	-	5	2025	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	KCNN3_uc001ffo.3_Missense_Mutation_p.H251Y|KCNN3_uc001ffp.3_Missense_Mutation_p.H556Y	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	561	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGAAGTTATGAACGTGCTTC	0.567000														16			17		0	0	0.007413	0	0
GSTCD	79807	broad.mit.edu	37	4	106640672	106640672	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:106640672C>T	uc003hxz.4	+	2	954	c.882C>T	c.(880-882)atC>atT	p.I294I	GSTCD_uc003hxx.2_Silent_p.I294I|GSTCD_uc003hxy.4_Silent_p.I207I|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Silent_p.I294I	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	294	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TGCCCTGTATCCATCATTTCT	0.403000														30			33		0	0	0.003271	0	0
SDAD1	55153	broad.mit.edu	37	4	76877281	76877281	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:76877281C>A	uc003hje.4	-	20	1982	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N	SDAD1_uc003hjf.4_Missense_Mutation_p.K524N|SDAD1_uc011cbr.2_Missense_Mutation_p.K584N	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	621					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.G620A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCGGTCTGTCTTTCCAGCCT	0.348000														74			18		4.96729e-08	5.41886e-08	0.008871	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338578	28338578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:28338578G>A	uc002ymg.3	-	0	862	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	45					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R44H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCTGCCGCCGGCGGGGCTGG	0.766000														11			7		0	0	0.001984	0	0
LOC341056	341056	broad.mit.edu	37	11	122888594	122888594	+	RNA	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:122888594C>T	uc010rzt.2	+	0		c.321C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		GTTCTTGATTCGTATTGGGTC	0.478000														85			40		0	0	0.004878	0	0
ZNF578	147660	broad.mit.edu	37	19	53014785	53014785	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:53014785C>T	uc002pzp.4	+	5	1395	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGTCAAAATTCAACCCTTGTA	0.378000														45			22		0	0	0.001882	0	0
UBE2O	63893	broad.mit.edu	37	17	74387350	74387350	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:74387350G>A	uc002jrm.4	-	17	3618	c.3553C>T	c.(3553-3555)Cct>Tct	p.P1185S	UBE2O_uc002jrl.4_Missense_Mutation_p.P789S	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	1185							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCATCCTCAGGTTCTTGTTGG	0.682000														77			35		0	0	0.003755	0	0
TM9SF2	9375	broad.mit.edu	37	13	100207827	100207827	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr13:100207827C>T	uc001voj.1	+	14	1811	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TM9SF2_uc010afz.1_Silent_p.L395L	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	560					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCCTATTTCTGGTGTTTAT	0.333000														39			20		0	0	0.002780	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664492	38664492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:38664492G>A	uc022buw.1	+	0	293	c.293G>A	c.(292-294)cGc>cAc	p.R98H	MID1IP1_uc004dei.4_Missense_Mutation_p.R98H|MID1IP1_uc010ngz.3_Missense_Mutation_p.R98H|MID1IP1_uc004dej.4_Missense_Mutation_p.R98H	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	98					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						AAGTCCATCCGCAACGACATC	0.657000														81			15		0	0	0.004007	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751421	19751421	+	Silent	SNP	G	A	A	rs142245280		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr13:19751421G>A	uc009zzj.3	-	3	807	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	234					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGAGGACACGATCTGCCCAA	0.567000														84			37		0	0	0.004878	0	0
CLCN2	1181	broad.mit.edu	37	3	184070900	184070900	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:184070900C>T	uc003foi.3	-	17	2188	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	CLCN2_uc003foh.3_Silent_p.R212R|CLCN2_uc010hya.2_Silent_p.R671R|CLCN2_uc011brl.2_Silent_p.R688R|CLCN2_uc011brm.2_Silent_p.R644R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	688						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGGTCTCCCCCCGGGCTGCTG	0.617000														107			76		0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1507809	1507809	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:1507809G>A	uc002qwr.3	+	13	2562	c.2476G>A	c.(2476-2478)Gcg>Acg	p.A826T	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.A826T|TPO_uc002qwx.3_Missense_Mutation_p.A769T|TPO_uc002qwu.3_Missense_Mutation_p.A769T|TPO_uc010yio.2_Missense_Mutation_p.A653T|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	826	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A826T(4)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTGTCTCTGCGCGGACCCCTA	0.577000														37			19		0	0	0.008871	0	0
OR3A3	8392	broad.mit.edu	37	17	3324755	3324755	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:3324755C>T	uc010vrd.2	+	0	894	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACCCACTTATCTACAGCCTCA	0.498000														70			33		0	0	0.003755	0	0
BDP1	55814	broad.mit.edu	37	5	70806692	70806692	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:70806692G>T	uc003kbp.1	+	16	4036	c.3773G>T	c.(3772-3774)gGa>gTa	p.G1258V	BDP1_uc003kbn.1_Missense_Mutation_p.G1258V|BDP1_uc003kbo.3_Missense_Mutation_p.G1258V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1258	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGAAACTGGAAAAAGAGAC	0.358000														157			32		9.8876e-21	1.10695e-20	0.004878	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3682274	3682274	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:3682274G>A	uc002wja.3	-	5	1243	c.1243C>T	c.(1243-1245)Cca>Tca	p.P415S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P415S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	415	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCAGGACTGGAGTGAGAGGC	0.617000														21			19		0	0	0.007413	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32926163	32926163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:32926163C>T	uc001zgy.1	+	9	1987	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.S233F|ARHGAP11A_uc001zgw.3_Missense_Mutation_p.S422F|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.S233F	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	422					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GGCTGCTTTTCTCCTAAAATC	0.333000														9			12		0	0	0.001855	0	0
PDXDC1	23042	broad.mit.edu	37	16	15125745	15125745	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:15125745C>G	uc002dda.4	+	16	1777	c.1553C>G	c.(1552-1554)tCt>tGt	p.S518C	PDXDC1_uc010uzl.2_Missense_Mutation_p.S503C|PDXDC1_uc010uzm.2_Missense_Mutation_p.S427C|PDXDC1_uc002ddb.4_Missense_Mutation_p.S491C|PDXDC1_uc010uzn.2_Missense_Mutation_p.S490C|PDXDC1_uc002ddc.3_Intron	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	518					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCTAACTGGTCTGGAATAGGG	0.473000														10			4		0	0	0.009096	0	0
NPHP1	4867	broad.mit.edu	37	2	110904336	110904336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:110904336G>A	uc002tfn.4	-	13	1605	c.1511C>T	c.(1510-1512)cCa>cTa	p.P504L	NPHP1_uc002tfm.4_Missense_Mutation_p.P449L|NPHP1_uc002tfl.4_Missense_Mutation_p.P505L|NPHP1_uc002tfo.4_Missense_Mutation_p.P386L|NPHP1_uc010ywx.2_Missense_Mutation_p.P448L|NPHP1_uc010fjv.1_Missense_Mutation_p.P448L	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	504					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTACTTTGCTGGAATAGGAAC	0.368000														54			10		0	0	0.008291	0	0
PDZD4	57595	broad.mit.edu	37	X	153069986	153069986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:153069986G>A	uc004fja.1	-	7	1400	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	PDZD4_uc004fiy.1_Missense_Mutation_p.P303S|PDZD4_uc004fiz.1_Missense_Mutation_p.P378S|PDZD4_uc004fix.2_Missense_Mutation_p.P282S|PDZD4_uc011mze.1_Missense_Mutation_p.P269S|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)					GAGGCCCGGGGAAAGAGGAGG	0.642000														30			7		0	0	0.004482	0	0
FHDC1	85462	broad.mit.edu	37	4	153895901	153895901	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:153895901C>T	uc003inf.2	+	10	1533	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	486					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCAGCGCTCCTGGGCAACTG	0.632000														43			13		0	0	0.003163	0	0
PPEF2	5470	broad.mit.edu	37	4	76788487	76788487	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:76788487T>A	uc003hix.3	-	13	2092	c.1735A>T	c.(1735-1737)Aag>Tag	p.K579*	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Nonsense_Mutation_p.K579*	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	579	EF-hand 1.				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)			GCATCATGCTTCTTAAATTCA	0.428000														33			6		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223009	140223009	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140223009C>T	uc003lhs.2	+	0	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I701I	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	709					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I701I(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)			TGTACCTGATCATCGCCATCT	0.662000														78			35		0	0	0.004878	0	0
CIITA	4261	broad.mit.edu	37	16	10997624	10997624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:10997624G>A	uc002daj.4	+	8	945	c.812G>A	c.(811-813)aGt>aAt	p.S271N	CIITA_uc002dai.4_Missense_Mutation_p.S270N|CIITA_uc002dak.4_Missense_Mutation_p.S221N|CIITA_uc002dag.2_Missense_Mutation_p.S270N|CIITA_uc002dah.2_Missense_Mutation_p.S222N|CIITA_uc010bup.1_Missense_Mutation_p.S270N	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	270					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCCCTCCCAGTGGATTCACT	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									43			40		0	0	0.007835	0	0
SERPINB7	8710	broad.mit.edu	37	18	61459658	61459658	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:61459658G>A	uc002ljl.3	+	2	296	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SERPINB7_uc002ljm.3_Missense_Mutation_p.G67E|SERPINB7_uc010xet.2_Intron|SERPINB7_uc010dqg.3_Missense_Mutation_p.G67E	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	67					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCAGGATATGGAAACTCTTCT	0.408000														50			10		0	0	0.006214	0	0
PER1	5187	broad.mit.edu	37	17	8049412	8049412	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:8049412C>T	uc002gkd.3	-	16	2320	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.R678R	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	694	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGGCTCCTTCCGTGGGGTGG	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						64			22		0	0	0.002299	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57450009	57450009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:57450009C>T	uc001nkx.1	+	2	1476	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ZDHHC5_uc001nky.1_Missense_Mutation_p.P21S|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	74						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGGGATTTTCCCTCGAGGTAA	0.463000														42			25		0	0	0.006320	0	0
NCK2	8440	broad.mit.edu	37	2	106498299	106498299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:106498299C>T	uc002tdg.3	+	3	1018	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.P248S	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	248	SH3 3.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGCCTCGTCCCCAAAAACTA	0.637000														49			21		0	0	0.002299	0	0
USP40	55230	broad.mit.edu	37	2	234465632	234465632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:234465632G>A	uc010zmr.2	-	3	451	c.451C>T	c.(451-453)Cga>Tga	p.R151*	USP40_uc010zmu.1_Nonsense_Mutation_p.R139*	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	139					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAGGATTCGATTCAGTTCC	0.388000														27			21		0	0	0.002299	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883398	12883398	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:12883398C>G	uc002gnr.4	+	18	2114	c.1787C>G	c.(1786-1788)tCt>tGt	p.S596C	ARHGAP44_uc010vvk.2_Missense_Mutation_p.S596C|ARHGAP44_uc010vvl.2_Missense_Mutation_p.S590C|ARHGAP44_uc002gns.4_Missense_Mutation_p.S390C|ARHGAP44_uc010vvm.2_Missense_Mutation_p.S590C|ARHGAP44_uc010vvn.2_Intron	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	596					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAGGAACTTTCTCCAGGCTCT	0.582000														40			10		0	0	0.008291	0	0
MAP4K3	8491	broad.mit.edu	37	2	39542498	39542498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:39542498G>A	uc002rro.3	-	12	1041	c.950C>T	c.(949-951)tCa>tTa	p.S317L	MAP4K3_uc002rrp.3_Missense_Mutation_p.S317L|MAP4K3_uc010yns.2_5'UTR	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	317					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTACTTGTTGAGTGAATTCT	0.313000														23			12		0	0	0.001855	0	0
TTLL6	284076	broad.mit.edu	37	17	46867331	46867331	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:46867331C>T	uc021tzm.1	-	9	1397	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	TTLL6_uc002iob.3_Silent_p.R147R|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.R207R|TTLL6_uc002iod.3_Silent_p.R301R	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	406						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAACTGCCCCCGTTGTCTCT	0.522000														37			22		0	0	0.001882	0	0
SESN2	83667	broad.mit.edu	37	1	28605701	28605701	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:28605701C>T	uc001bps.3	+	8	1701	c.1305C>T	c.(1303-1305)acC>acT	p.T435T		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	435					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAGAAGACCACCCGAAGAA	0.522000														51			19		0	0	0.008871	0	0
USP26	83844	broad.mit.edu	37	X	132160351	132160351	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:132160351G>A	uc011mvf.2	-	0	1950	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	USP26_uc010nrm.1_Missense_Mutation_p.S633F	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	633					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTTGGTTTAGAATTTTTTCC	0.398000														28			6		0	0	0.001168	0	0
ABL1	25	broad.mit.edu	37	9	133759737	133759737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:133759737G>A	uc004bzw.3	+	10	2063	c.2060G>A	c.(2059-2061)tGg>tAg	p.W687*	ABL1_uc004bzv.3_Nonsense_Mutation_p.W706*	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	687					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCACCTGTGGAAGAAGTCC	0.692000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									10			13		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179544088	179544088	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179544088C>T	uc021vsy.1	-	138	30213	c.29988G>A	c.(29986-29988)aaG>aaA	p.K9996K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K6657K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10923	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCTTCTCCTTTTTAGGAA	0.398000														51			19		0	0	0.008871	0	0
ZNF212	7988	broad.mit.edu	37	7	148951046	148951046	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:148951046C>G	uc003wfp.3	+	4	1156	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGGTGGGGGTCTTGTACACCT	0.577000														45			14		0	0	0.001855	0	0
TOP3A	7156	broad.mit.edu	37	17	18178138	18178138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:18178138G>A	uc002gsx.1	-	18	3213	c.2984C>T	c.(2983-2985)cCc>cTc	p.P995L	TOP3A_uc010cpz.1_Missense_Mutation_p.P447L|TOP3A_uc010vxr.1_Missense_Mutation_p.P525L|TOP3A_uc002gsw.1_Missense_Mutation_p.P447L|TOP3A_uc010vxs.1_Missense_Mutation_p.P893L	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	995					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGGACAAAAGGGACGGGTGTG	0.542000														78			31		0	0	0.003271	0	0
EPHA7	2045	broad.mit.edu	37	6	93956618	93956618	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:93956618C>A	uc003poe.3	-	14	2859	c.2618G>T	c.(2617-2619)tGg>tTg	p.W873L	EPHA7_uc003pof.3_Missense_Mutation_p.W868L|EPHA7_uc011eac.2_Missense_Mutation_p.W869L	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	873	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCCTTTTGCCAACAATCCAA	0.428000														22			34		1.62565e-12	1.80419e-12	0.002445	1	0
C4orf19	55286	broad.mit.edu	37	4	37592072	37592072	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:37592072C>A	uc003gsw.4	+	3	578	c.395C>A	c.(394-396)cCa>cAa	p.P132Q	C4orf19_uc003gsy.4_Missense_Mutation_p.P132Q	NM_001104629	NP_060772	Q8IY42	CD019_HUMAN	Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA.	132										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						ACTGTTCCCCCAACTCAACCC	0.597000														42			38		1.67305e-13	1.86217e-13	0.006230	1	0
DLEC1	9940	broad.mit.edu	37	3	38138146	38138146	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:38138146C>T	uc003chp.1	+	14	2279	c.2258C>T	c.(2257-2259)cCt>cTt	p.P753L	DLEC1_uc003cho.1_Missense_Mutation_p.P753L|DLEC1_uc010hgv.1_Missense_Mutation_p.P753L|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	753					negative regulation of cell proliferation	cytoplasm		p.E752K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCAGTAGAACCTTTCCAGGTT	0.483000														89			36		0	0	0.004289	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213788	42213788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:42213788G>A	uc002orl.3	+	1	375	c.254G>A	c.(253-255)gGa>gAa	p.G85E	CEACAM5_uc010ehz.1_Missense_Mutation_p.G85E|CEACAM5_uc002orj.1_Missense_Mutation_p.G85E	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	85	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TATGTAATAGGAACTCAACAA	0.468000														67			28		0	0	0.007835	0	0
ZNF43	7594	broad.mit.edu	37	19	22000695	22000696	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:22000695_22000696GG>AA	uc002nqj.3	-	2	353_354	c.223_224CC>TT	c.(223-225)ccc>TTc	p.P75F	ZNF43_uc002nql.3_Missense_Mutation_p.P69F|ZNF43_uc002nqm.3_Missense_Mutation_p.P69F|ZNF43_uc010ecv.3_Missense_Mutation_p.P69F|ZNF43_uc002nqk.3_Missense_Mutation_p.P5F	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P75R(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCTACCTGGGGGTTTGGCTACC	0.465000														102			32		0	0	0.004672	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581472	140581472	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140581472G>C	uc003liy.3	+	0	2125	c.2125G>C	c.(2125-2127)Gtg>Ctg	p.V709L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	709					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.687000														156			20		0	0	0.002299	0	0
ABCD2	225	broad.mit.edu	37	12	39967592	39967592	+	Silent	SNP	G	A	A	rs56388075		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:39967592G>A	uc001rmb.2	-	8	2355	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	643	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCTTTCCTTCGACATCAATGC	0.358000														23			41		0	0	0.002852	0	0
OR10G4	390264	broad.mit.edu	37	11	123886915	123886915	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:123886915C>T	uc010sac.2	+	0	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTTTGTCCTGATAGTGCT	0.562000														159			22		0	0	0.001882	0	0
PADI4	23569	broad.mit.edu	37	1	17657557	17657557	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:17657557C>T	uc001baj.2	+	1	214	c.186C>T	c.(184-186)tcC>tcT	p.S62S	PADI4_uc009vpc.2_Silent_p.S62S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	62					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGAAGAAATCCACAGGTTCCT	0.602000														29			27		0	0	0.008361	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651807	84651807	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:84651807G>A	uc002bjz.4	+	20	3651	c.3427G>A	c.(3427-3429)Gaa>Aaa	p.E1143K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1143K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1143						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)			GGGCATCCAGGAAGAGACACC	0.557000														27			10		0	0	0.000978	0	0
ERCC2	2068	broad.mit.edu	37	19	45855574	45855574	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:45855574G>A	uc002pbj.2	-	21	2130	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	ERCC2_uc002pbh.2_Missense_Mutation_p.R258C|ERCC2_uc002pbi.2_Missense_Mutation_p.R388C|ERCC2_uc010ejz.2_Missense_Mutation_p.R617C|ERCC2_uc002pbk.2_Missense_Mutation_p.R671C	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	695					UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGATCCAGCGGGGCAGCTTC	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					40			20		0	0	0.002299	0	0
CHD2	1106	broad.mit.edu	37	15	93521462	93521462	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:93521462A>G	uc002bsp.3	+	21	3153	c.2578_splice	c.e21-2	p.D860_splice	CHD2_uc002bso.1_Splice_Site_p.D860_splice|CHD2_uc010bog.1_Missense_Mutation_p.R133G|CHD2_uc010boh.1_Splice_Site_p.D54_splice	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	860	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATTGTGTACAGGACTTCTGT	0.493000														43			31		0	0	0.002445	0	0
MVP	9961	broad.mit.edu	37	16	29859194	29859194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:29859194C>T	uc002dui.3	+	14	2718	c.2566C>T	c.(2566-2568)Cag>Tag	p.Q856*	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Nonsense_Mutation_p.Q856*|MVP_uc010vea.2_Nonsense_Mutation_p.Q450*	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	856					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCCGAGGGTCAGCCCCTGGG	0.647000														106			15		0	0	0.002450	0	0
MOSPD2	158747	broad.mit.edu	37	X	14930383	14930383	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:14930383G>A	uc004cwi.3	+	9	1016	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	MOSPD2_uc004cwj.3_Missense_Mutation_p.E235K	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	298						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TAACCCAACCGAATCTACTTC	0.303000														59			11		0	0	0.000978	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184863	118184863	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:118184863G>A	uc003yoh.3	+	7	1283	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	SLC30A8_uc010mcz.3_Missense_Mutation_p.M302I|SLC30A8_uc003yog.3_Missense_Mutation_p.M302I|SLC30A8_uc011lia.2_Missense_Mutation_p.M302I|SLC30A8_uc022bab.1_Missense_Mutation_p.M302I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	351					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCATTCAGATGGAATCTCCAG	0.507000														247			167		0	0	0.003610	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814062	106814062	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:106814062C>T	uc003ymd.3	+	7	1775	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ZFPM2_uc011lhs.2_Silent_p.F315F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	584					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)			CCCCAGAGTTCCCTAGTGTGT	0.443000														136			34		0	0	0.003755	0	0
COG5	10466	broad.mit.edu	37	7	106871105	106871105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:106871105C>T	uc003vec.2	-	18	2741	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	COG5_uc003ved.2_Missense_Mutation_p.R718Q|COG5_uc003vee.2_Missense_Mutation_p.R739Q	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	718					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding	p.R739L(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388000														131			22		0	0	0.002299	0	0
ZNF238	10472	broad.mit.edu	37	1	244218069	244218069	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:244218069C>T	uc001iad.4	+	1	1166	c.993C>T	c.(991-993)gtC>gtT	p.V331V	ZNF238_uc001iae.3_Silent_p.V322V|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	322	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			AGGACTCGGTCTTGAGGGAGC	0.557000														26			30		0	0	0.002096	0	0
DNAH8	1769	broad.mit.edu	37	6	38816575	38816575	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:38816575C>G	uc021yzh.1	+	36	5306	c.5197C>G	c.(5197-5199)Cag>Gag	p.Q1733E	DNAH8_uc003ooe.2_Missense_Mutation_p.Q1516E	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						ACAGCTGCCTCAGGTAAATAT	0.378000														94			6		0	0	0.001168	0	0
VWA2	340706	broad.mit.edu	37	10	116049010	116049010	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:116049010C>T	uc001lbl.1	+	11	2205	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	VWA2_uc001lbk.1_Silent_p.A628A|VWA2_uc009xyf.1_Silent_p.A324A	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	628	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGAGGGGTGCCCGGCCTGGTG	0.642000														11			18		0	0	0.007413	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734378	20734378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:20734378C>T	uc021xmt.1	-	6	688	c.568G>A	c.(568-570)Gat>Aat	p.D190N	KCNIP4_uc003gqe.2_Missense_Mutation_p.D173N|KCNIP4_uc003gqf.1_Missense_Mutation_p.D169N|KCNIP4_uc003gqg.1_Missense_Mutation_p.D128N|KCNIP4_uc003gqh.1_Missense_Mutation_p.D165N|KCNIP4_uc003gqi.1_Missense_Mutation_p.D128N|KCNIP4_uc021xmu.1_Missense_Mutation_p.D156N|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.D153N	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	190	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CCCATCATATCGTATATTGCT	0.378000														31			7		0	0	0.004482	0	0
LILRB3	11025	broad.mit.edu	37	19	54803141	54803141	+	Missense_Mutation	SNP	C	G	G	rs147561158	byFrequency	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:54803141C>G	uc002qfd.3	-	3	628	c.536G>C	c.(535-537)cGg>cCg	p.R179P	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	178	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGATGGCCCGGGATGACCC	0.567000														13			22		0	0	0.001882	0	0
EPPK1	83481	broad.mit.edu	37	8	144940741	144940741	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:144940741C>T	uc003zaa.1	-	0	6694	c.6681G>A	c.(6679-6681)gcG>gcA	p.A2227A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2227						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)			CCAGGACGCCCGCGATGCAGC	0.677000														105			4		0	0	0.009096	0	0
SLC22A2	6582	broad.mit.edu	37	6	160645756	160645756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:160645756C>T	uc003qtf.3	-	9	1756	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	528					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTTTCGGCTTCCTCGATGGTC	0.418000														46			42		0	0	0.002852	0	0
abParts	0	broad.mit.edu	37	14	107099305	107099305	+	RNA	SNP	T	C	C	rs117541988	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:107099305T>C	uc021ser.1	-	105		c.4783A>G								Parts of antibodies, mostly variable regions.																		AAACCCTTTCTTGGAGCCTGG	0.542000														30			3		0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	41423967	41423967	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:41423967C>T	uc002yyq.1	-	29	5555	c.5103G>A	c.(5101-5103)acG>acA	p.T1701T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1701					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTGAGTGACCGTCAGGGACT	0.547000														64			40		0	0	0.006230	0	0
ASIC2	40	broad.mit.edu	37	17	31355372	31355372	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:31355372G>A	uc002hht.3	-	3	1899	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	ASIC2_uc002hhu.3_Silent_p.S291S	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	291					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCATCTCTGAGGATCGGCACT	0.542000														40			24		0	0	0.003954	0	0
PRSS16	10279	broad.mit.edu	37	6	27216906	27216906	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:27216906G>A	uc003nja.3	+	3	380	c.365G>A	c.(364-366)tGg>tAg	p.W122*	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Nonsense_Mutation_p.W12*|PRSS16_uc010jqr.1_Nonsense_Mutation_p.W12*|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	122					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCCAGCCTGGGGCGCCCTG	0.587000														45			35		0	0	0.003271	0	0
RAD51C	5889	broad.mit.edu	37	17	56787223	56787223	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:56787223C>T	uc002iwu.3	+	4	751	c.709C>T	c.(709-711)Cga>Tga	p.R237*	RAD51C_uc010woa.1_Nonsense_Mutation_p.R237*|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	237					DNA repair|blood coagulation	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.R237*(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TATTTAGGTTCGACTAGTGAT	0.368000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2					90			34		0	0	0.004289	0	0
TUBG2	27175	broad.mit.edu	37	17	40817713	40817713	+	Silent	SNP	G	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:40817713G>C	uc010wgr.2	+	7	967	c.711G>C	c.(709-711)tcG>tcC	p.S237S	TUBG2_uc002iap.3_Silent_p.S84S	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	237					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCATCATGTCGGCCAGCACCA	0.632000														60			42		0	0	0.003214	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148691727	148691727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:148691727C>T	uc003lqh.3	+	8	1111	c.980C>T	c.(979-981)cCc>cTc	p.P327L	AFAP1L1_uc003lqg.4_Missense_Mutation_p.P327L|AFAP1L1_uc010jgy.3_Missense_Mutation_p.P327L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	327							protein binding	p.V326V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTCCCCAGATCCCCA	0.587000														94			16		0	0	0.006122	0	0
OR5M1	390168	broad.mit.edu	37	11	56380097	56380097	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:56380097G>C	uc001nja.1	-	0	882	c.882C>G	c.(880-882)aaC>aaG	p.N294K	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTACATCTGTGTTCCGTAGGC	0.403000														225			30		0	0	0.002836	0	0
KRT37	8688	broad.mit.edu	37	17	39578686	39578686	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:39578686C>T	uc002hwp.1	-	4	780	c.733_splice	c.e4-1	p.E245_splice		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	245	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATCTTTACTTCCTGCAGAAAT	0.567000														91			51		0	0	0.003610	0	0
DBX1	120237	broad.mit.edu	37	11	20177834	20177834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:20177834C>T	uc021qez.1	-	3	1075	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	DBX1_uc021qey.1_Missense_Mutation_p.G320R	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	320					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAAGGTTTCCCGGGACTGCTC	0.677000														85			99		0	0	0.003610	0	0
CLDN6	9074	broad.mit.edu	37	16	3065515	3065515	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:3065515C>T	uc021tbb.1	-	0	508	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	CLDN6_uc002csu.4_Missense_Mutation_p.A170T	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	170					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGGCCTGAGGCCGCCCAGCCC	0.657000														8			12		0	0	0.001368	0	0
ZNF83	55769	broad.mit.edu	37	19	53116513	53116513	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:53116513C>T	uc002pzu.4	-	1	2549	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	ZNF83_uc002pzv.4_Silent_p.G435G|ZNF83_uc010eps.3_Silent_p.G407G|ZNF83_uc010ept.3_Silent_p.G435G|ZNF83_uc010epu.3_Silent_p.G435G|ZNF83_uc010epw.3_Silent_p.G435G|ZNF83_uc010epv.3_Silent_p.G435G|ZNF83_uc010epx.3_Silent_p.G407G|ZNF83_uc010epy.3_Silent_p.G435G|ZNF83_uc010epz.3_Silent_p.G407G|ZNF83_uc010eqb.2_Silent_p.G407G|ZNF83_uc021uyx.1_Silent_p.G435G	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	435						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CGAAGACCTTCCCACATTCAT	0.368000														60			17		0	0	0.004007	0	0
ABCG1	9619	broad.mit.edu	37	21	43645804	43645804	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:43645804G>A	uc011aev.2	+	1	173	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ABCG1_uc002zam.3_5'UTR|ABCG1_uc002zan.3_Silent_p.E24E|ABCG1_uc002zao.3_Silent_p.E19E|ABCG1_uc002zap.3_Silent_p.E22E|ABCG1_uc002zaq.3_Silent_p.E22E|ABCG1_uc002zar.3_Silent_p.E33E	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	22					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.S32L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACTCTGCAGAGATGACGGAGC	0.483000														86			31		0	0	0.002096	0	0
SGTB	54557	broad.mit.edu	37	5	65008804	65008804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:65008804G>A	uc003jud.3	-	2	408	c.188C>T	c.(187-189)aCc>aTc	p.T63I		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta (SGTB), mRNA.	63							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GAAGGAACTGGTAAACATTTC	0.348000														29			18		0	0	0.008871	0	0
PDILT	204474	broad.mit.edu	37	16	20376827	20376827	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:20376827C>T	uc002dhc.1	-	8	1375	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	384					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCCCTGGTCCCAGTATTTTG	0.448000														97			28		0	0	0.005443	0	0
OR8H1	219469	broad.mit.edu	37	11	56058493	56058493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:56058493C>T	uc010rje.2	-	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T15M(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCTGACAGTCCCGTAAGGATG	0.378000														77			36		0	0	0.003755	0	0
PI4K2B	55300	broad.mit.edu	37	4	25265404	25265404	+	Silent	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:25265404T>C	uc003grk.2	+	6	1144	c.1011T>C	c.(1009-1011)ctT>ctC	p.L337L	PI4K2B_uc011bxs.2_Silent_p.L241L	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	337	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AAGAATTCCTTATTAAAATAG	0.289000														84			18		0	0	0.001882	0	0
OR10J1	26476	broad.mit.edu	37	1	159410425	159410425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:159410425C>T	uc010piv.2	+	0	914	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	293					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGTCATCACTCCCCTACTGAA	0.507000														57			15		0	0	0.002450	0	0
GRIA2	2891	broad.mit.edu	37	4	158234028	158234028	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:158234028G>A	uc003ipm.4	+	4	1125	c.666_splice	c.e4+1	p.Q222_splice	GRIA2_uc011cit.2_Splice_Site_p.Q175_splice|GRIA2_uc021xtr.1_Splice_Site_p.Q222_splice|GRIA2_uc003ipl.4_Splice_Site_p.Q222_splice|GRIA2_uc003ipk.4_Splice_Site_p.Q175_splice|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	222					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGTAGACCAGGTTTGCTACTT	0.378000														55			13		0	0	0.001855	0	0
F10	2159	broad.mit.edu	37	13	113803759	113803759	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr13:113803759C>T	uc001vsx.3	+	7	1452	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	465	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGACAGGTCCATGAAAACCA	0.572000														89			28		0	0	0.004656	0	0
FBXO40	51725	broad.mit.edu	37	3	121340282	121340282	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:121340282G>A	uc003eeg.2	+	2	216	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	2					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.M1I(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGTCCAGGGGAAAGCCCGCA	0.507000														65			45		0	0	0.003610	0	0
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:8420609T>G	uc001ape.3	-	18	3768	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_uc001apf.3_Silent_p.P986P|RERE_uc010nzx.1_Silent_p.P718P|RERE_uc001apd.3_Silent_p.P432P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	986	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(8)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706000														32			4		0	0	0.001984	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237430	30237430	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:30237430T>A	uc022buf.1	+	0	733	c.733T>A	c.(733-735)Tgg>Agg	p.W245R	MAGEB2_uc004dbz.3_Missense_Mutation_p.W245R	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	245	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGGGGAACCCTGGAAGCTCAT	0.498000														52			15		0	0	0.004007	0	0
NARS2	79731	broad.mit.edu	37	11	78282420	78282420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:78282420C>T	uc001ozi.3	-	1	587	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	NARS2_uc010rsq.2_5'UTR	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	71					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGAAGGCTTTCCAAAGATGAC	0.403000														45			27		0	0	0.002445	0	0
ANO10	55129	broad.mit.edu	37	3	43474171	43474171	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:43474171T>C	uc003cmv.3	-	11	2017	c.1846A>G	c.(1846-1848)Aag>Gag	p.K616E	ANO10_uc011azs.2_Intron|ANO10_uc003cmw.3_Missense_Mutation_p.K550E|ANO10_uc010hil.3_Missense_Mutation_p.K426E|ANO10_uc011azt.2_Missense_Mutation_p.K505E	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	616					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGCCGTGGCTTATCAGGTATG	0.423000														33			17		0	0	0.004990	0	0
DNER	92737	broad.mit.edu	37	2	230411694	230411694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:230411694C>T	uc002vpv.3	-	4	1109	c.962G>A	c.(961-963)gGa>gAa	p.G321E	DNER_uc010zly.1_Missense_Mutation_p.G49E	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	321	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTTCCTTTTCCTGAACACTC	0.448000														68			52		0	0	0.003610	0	0
TANC2	26115	broad.mit.edu	37	17	61498424	61498424	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:61498424A>T	uc002jal.4	+	24	5104	c.5081A>T	c.(5080-5082)aAa>aTa	p.K1694I	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.K805I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1694							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGATTGACCAAAGAGGATCTT	0.572000														160			29		0	0	0.006320	0	0
ZNF473	25888	broad.mit.edu	37	19	50549410	50549410	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:50549410C>T	uc002prn.3	+	4	1947	c.1710C>T	c.(1708-1710)acC>acT	p.T570T	ZNF473_uc002prm.3_Silent_p.T570T|ZNF473_uc010ybo.2_Silent_p.T558T	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	570					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAGAAAACCTTTAGCTGCA	0.443000														23			4		0	0	0.009096	0	0
ANK2	287	broad.mit.edu	37	4	114277622	114277622	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:114277622A>C	uc003ibe.4	+	37	7948	c.7848A>C	c.(7846-7848)aaA>aaC	p.K2616N	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2631N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2583					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAACCCAAACAAGAAGAAT	0.403000														66			22		0	0	0.002780	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:71275418C>T	uc003hfi.3	+	2	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000														96			15		0	0	0.003163	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910574	230910574	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:230910574G>A	uc002vqd.2	-	3	1727	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.S423F|SLC16A14_uc002vqf.3_Missense_Mutation_p.S423F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	423						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGCATTAGGGAGAAATAACC	0.502000														27			23		0	0	0.004656	0	0
SPOCK1	6695	broad.mit.edu	37	5	136320844	136320844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:136320844C>T	uc003lbo.3	-	7	1167	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	SPOCK1_uc003lbp.3_Missense_Mutation_p.G326R	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	326	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCTTTTCCCCTTACTCAGC	0.393000														50			26		0	0	0.004656	0	0
ZFAT	57623	broad.mit.edu	37	8	135614396	135614396	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:135614396C>T	uc003yup.3	-	5	1752	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	ZFAT_uc003yun.3_Silent_p.E510E|ZFAT_uc003yuo.3_Silent_p.E510E|ZFAT_uc010meh.3_Silent_p.E510E|ZFAT_uc010mej.3_Silent_p.E460E|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.E510E|ZFAT_uc003yur.3_Silent_p.E510E	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGGGCAAACTCCTCTTCCA	0.612000														15			8		0	0	0.006214	0	0
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Silent	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:39623705T>C	uc002lap.3	+	19	2170	c.2112T>C	c.(2110-2112)ttT>ttC	p.F704F	PIK3C3_uc010xcl.2_Silent_p.F641F|PIK3C3_uc002laq.3_Silent_p.F189F|PIK3C3_uc002lar.1_Silent_p.F88F	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	704	PI3K/PI4K.				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						AGAACTTTTTTAGAAAATATG	0.338000										TSP Lung(28;0.18)				43			10		0	0	0.001368	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212798	26212798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:26212798G>A	uc022buc.1	+	0	835	c.835G>A	c.(835-837)Gat>Aat	p.D279N	MAGEB6_uc004dbr.3_Missense_Mutation_p.D279N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	279	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCTGAGTGGTGATAATGCGCT	0.547000														136			30		0	0	0.002836	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458067	20458067	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:20458067C>A	uc002zsd.4	-	0	3720	c.3235G>T	c.(3235-3237)Gac>Tac	p.D1079Y	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGAGTGTGTCGAAGGTGACG	0.657000														47			5		0.000602214	0.000640583	0.000602	1	0
TTN	7273	broad.mit.edu	37	2	179407493	179407493	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:179407493T>A	uc021vsy.1	-	296	89609	c.89384A>T	c.(89383-89385)aAa>aTa	p.K29795I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K23490I|TTN_uc021vta.1_Missense_Mutation_p.K23423I|TTN_uc021vtb.1_Missense_Mutation_p.K23298I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30722	Fibronectin type-III 117.						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)			GATGGTTAATTTAGCTACTTT	0.413000														129			45		0	0	0.009718	0	0
GRIA4	2893	broad.mit.edu	37	11	105774666	105774666	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:105774666C>T	uc001pix.2	+	7	1458	c.1012C>T	c.(1012-1014)Cca>Tca	p.P338S	GRIA4_uc001piu.1_Missense_Mutation_p.P338S|GRIA4_uc001piw.2_Missense_Mutation_p.P338S|GRIA4_uc009yxk.1_Missense_Mutation_p.P338S	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	338					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCCTGCTGCTCCATGGGGCCA	0.418000														77			60		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21042506	21042506	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:21042506C>T	uc010vbe.2	-	36	5300	c.5300G>A	c.(5299-5301)tGg>tAg	p.W1767*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1767	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCATCCATCCACTCGTGGCT	0.502000														51			40		0	0	0.002522	0	0
CCDC73	493860	broad.mit.edu	37	11	32636347	32636347	+	Missense_Mutation	SNP	G	A	A	rs79335956		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:32636347G>A	uc001mtv.3	-	15	1561	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	506								p.V505I(1)		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)					TCTGTTGTCCGTAACATTCGA	0.323000														133			8		0	0	0.003080	0	0
SNX29	92017	broad.mit.edu	37	16	12662371	12662371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:12662371C>T	uc002dby.4	+	20	2389	c.1172C>T	c.(1171-1173)aCc>aTc	p.T391I		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	391	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGCGACATCACCCCGCCCGGA	0.637000														49			11		0	0	0.001855	0	0
ABCC12	94160	broad.mit.edu	37	16	48138243	48138243	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:48138243G>A	uc002efc.1	-	19	3056	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	904	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGCCAGTGGGAGTCGTGTCA	0.478000														58			45		0	0	0.003610	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049364	47049364	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:47049364G>A	uc003cqp.3	+	48	7745	c.7566G>A	c.(7564-7566)cgG>cgA	p.R2522R	NBEAL2_uc010hjm.2_Silent_p.R1899R|NBEAL2_uc010hjn.2_Silent_p.R888R	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2522							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGGCTCCCGGGACACCACGT	0.632000														21			7		0	0	0.003080	0	0
CCDC129	223075	broad.mit.edu	37	7	31617677	31617677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:31617677C>T	uc011kae.2	+	7	889	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	CCDC129_uc011kad.1_Missense_Mutation_p.R277W|CCDC129_uc003tcj.1_Missense_Mutation_p.R267W|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.R175W	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	267										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAACATCAGGCGGGATTGTAA	0.473000														13			14		0	0	0.001855	0	0
ZNF264	9422	broad.mit.edu	37	19	57724217	57724217	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:57724217C>T	uc002qob.3	+	3	2166	c.1752C>T	c.(1750-1752)acC>acT	p.T584T		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCTCAGTTACCCTTCGAGAAC	0.438000														48			43		0	0	0.009718	0	0
XRCC5	7520	broad.mit.edu	37	2	217002897	217002897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:217002897C>T	uc002vfy.3	+	11	1477	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	XRCC5_uc002vfz.3_Missense_Mutation_p.P332L	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	446	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATGCTCCCACCGGTGAG	0.398000								Non-homologous end-joining						17			5		0	0	0.000602	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906605	32906605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:32906605C>T	uc003ocl.2	-	1	456	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.E65K|HLA-DMB_uc011dql.2_Missense_Mutation_p.E65K	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	65	Beta-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ACCCCAAATTCGCAAGGGGCC	0.512000														75			41		0	0	0.006999	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860877	30860877	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:30860877G>A	uc003ahy.3	-	7	683	c.594C>T	c.(592-594)ttC>ttT	p.F198F	SEC14L3_uc003ahz.3_Silent_p.F121F|SEC14L3_uc003aia.3_Silent_p.F139F|SEC14L3_uc003aib.3_Silent_p.F139F	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	198	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGCCCACAGGGAACAGTTTGG	0.448000														59			53		0	0	0.003610	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275012	2275012	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:2275012G>A	uc003slm.3	-	2	515	c.486C>T	c.(484-486)ttC>ttT	p.F162F	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Silent_p.F8F	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	162					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CGAGGTCCCGGAACCCTGTGG	0.572000														46			17		0	0	0.004007	0	0
TC2N	123036	broad.mit.edu	37	14	92266635	92266635	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:92266635C>T	uc001xzu.4	-	4	742	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	TC2N_uc001xzt.4_Missense_Mutation_p.R184Q|TC2N_uc010auc.3_Missense_Mutation_p.R184Q|TC2N_uc001xzv.4_Missense_Mutation_p.R184Q	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	184						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTGGATGAATCGCTGAGATGA	0.323000														7			3		0	0	0.004672	0	0
SDHAP3	728609	broad.mit.edu	37	5	1576305	1576305	+	RNA	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:1576305C>T	uc011cmd.1	-	1		c.424G>A			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		TTGTAGCCTTCCCTGGCGTGC	0.627000														21			9		0	0	0.008291	0	0
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:202131505C>T	uc002uxr.1	+	2	505	c.296C>T	c.(295-297)tCt>tTt	p.S99F	CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc021vuy.1_Missense_Mutation_p.S99F|CASP8_uc021vuz.1_Missense_Mutation_p.S99F|CASP8_uc021vva.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	99					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493000										HNSCC(4;0.00038)				23			14		0	0	0.001855	0	0
SLC12A3	6559	broad.mit.edu	37	16	56938370	56938370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:56938370G>A	uc002ekd.4	+	24	2976	c.2947G>A	c.(2947-2949)Gtc>Atc	p.V983I	SLC12A3_uc010ccm.3_Missense_Mutation_p.V974I|SLC12A3_uc010ccn.3_Missense_Mutation_p.V982I	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	974					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)	TGCTCTCATCGTCATGTAAGT	0.602000														96			5		0	0	0.001168	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498708	31498708	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:31498708C>T	uc002ecf.4	+	5	661	c.642C>T	c.(640-642)atC>atT	p.I214I	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	214					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCGCCTGCATCCTCATGGGTT	0.706000														85			48		0	0	0.003610	0	0
ODZ1	10178	broad.mit.edu	37	X	123518237	123518237	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:123518237C>T	uc010nqy.3	-	29	6608	c.6544G>A	c.(6544-6546)Gat>Aat	p.D2182N	ODZ1_uc011muj.2_Missense_Mutation_p.D2181N|ODZ1_uc004euj.3_Missense_Mutation_p.D2175N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2175					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						CCATTCAGATCGTAACTATAA	0.433000														62			24		0	0	0.002780	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747042	10747042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:10747042G>A	uc002mpf.3	+	14	1416	c.1277G>A	c.(1276-1278)cGt>cAt	p.R426H	SLC44A2_uc002mpe.4_Missense_Mutation_p.R424H|SLC44A2_uc002mpg.1_Missense_Mutation_p.R146H|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	426					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCCAATGCCCGTTGCCAGTTC	0.592000														52			33		0	0	0.003271	0	0
ALG13	79868	broad.mit.edu	37	X	110951458	110951458	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:110951458C>A	uc011msy.2	+	3	688	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ALG13_uc011msw.2_Missense_Mutation_p.P118H|ALG13_uc011msx.2_Missense_Mutation_p.P92H|ALG13_uc011msz.2_Missense_Mutation_p.P118H|ALG13_uc011mta.2_Missense_Mutation_p.P92H|ALG13_uc011mtb.2_Missense_Mutation_p.P92H	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	196					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TTTCCTCTCCCTCTTACCCCC	0.473000														39			17		9.16793e-09	1.00299e-08	0.004990	1	0
KAT7	11143	broad.mit.edu	37	17	47904851	47904851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:47904851C>T	uc002ipm.3	+	14	2039	c.1823C>T	c.(1822-1824)cCc>cTc	p.P608L	KAT7_uc002ipl.2_Missense_Mutation_p.P578L|KAT7_uc010wma.2_Missense_Mutation_p.P469L|KAT7_uc010wmb.2_Missense_Mutation_p.P498L|KAT7_uc010wmc.2_Missense_Mutation_p.P439L|KAT7_uc010wmd.2_Missense_Mutation_p.P452L|KAT7_uc010wme.2_Missense_Mutation_p.P422L|KAT7_uc010wmf.2_Missense_Mutation_p.P273L|KAT7_uc010wmg.2_Missense_Mutation_p.P163L	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	608					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TGGACCCCTCCCAAGGGCACT	0.507000														39			16		0	0	0.004990	0	0
MED12L	116931	broad.mit.edu	37	3	150840679	150840679	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:150840679T>G	uc003eyp.3	+	2	443	c.314T>G	c.(313-315)gTt>gGt	p.V105G	MED12L_uc011bnz.2_Missense_Mutation_p.V105G|MED12L_uc003eym.1_Missense_Mutation_p.V105G|MED12L_uc003eyn.3_Missense_Mutation_p.V105G|MED12L_uc003eyo.3_Missense_Mutation_p.V105G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	105					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATTGGCTGGTTACTGCTCGA	0.363000														13			8		0	0	0.004482	0	0
ARID1A	8289	broad.mit.edu	37	1	27100919	27100919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:27100919C>T	uc001bmv.1	+	17	4574	c.4201C>T	c.(4201-4203)Cag>Tag	p.Q1401*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1400*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1018*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q247*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1401	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q1401*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGGCAGCCTCAGCAGCAGCA	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									41			10		0	0	0.008291	0	0
HEPH	9843	broad.mit.edu	37	X	65408329	65408329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:65408329C>T	uc011moz.2	+	4	1053	c.916C>T	c.(916-918)Cct>Tct	p.P306S	HEPH_uc004dwn.3_Missense_Mutation_p.P255S|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.P255S|HEPH_uc011mpa.2_Missense_Mutation_p.P255S	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	252	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A306V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGCTCAGATCCTGCTTCAGT	0.473000														29			11		0	0	0.000978	0	0
CENPC1	1060	broad.mit.edu	37	4	68374707	68374707	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:68374707G>A	uc003hdd.1	-	9	1912	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P577S	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	577					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						CTTTTAAGTGGAATAGTTTTT	0.338000														80			16		0	0	0.004007	0	0
PTPRT	11122	broad.mit.edu	37	20	40827898	40827898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:40827898G>A	uc002xkg.3	-	15	2657	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.Q844*|PTPRT_uc010ggi.3_Nonsense_Mutation_p.Q28*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	825					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)				TTGACGTCCTGAGAACTAGAA	0.567000														333			164		0	0	0.003610	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019438	161019438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:161019438C>T	uc001fxl.3	-	10	1808	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	ARHGAP30_uc001fxk.3_Missense_Mutation_p.D488N|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D334N|ARHGAP30_uc009wtx.3_Missense_Mutation_p.D161N|ARHGAP30_uc001fxn.1_Missense_Mutation_p.D334N	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	488					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGCCTGAGTCTGCCAGGGGA	0.562000														75			18		0	0	0.007413	0	0
UBR5	51366	broad.mit.edu	37	8	103359151	103359151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:103359151G>A	uc003ykr.2	-	5	1011	c.556C>T	c.(556-558)Cca>Tca	p.P186S	UBR5_uc003yks.2_Missense_Mutation_p.P186S	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	186					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTCCTCTGGAATGACAGAT	0.502000														40			47		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9013898	9013898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:9013898G>A	uc002mkp.3	-	32	38696	c.38492C>T	c.(38491-38493)tCc>tTc	p.S12831F	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12833				Missing (in Ref. 3; AAK74120).	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						GTCCACTGTGGAGGTCCCAGG	0.483000														16			6		0	0	0.001984	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202161	22202161	+	Splice_Site	SNP	T	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:22202161T>G	uc003svg.3	-	13	1138	c.825_splice	c.e13-1	p.H275_splice	RAPGEF5_uc011jyl.1_Splice_Site	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	125					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GCAGAATAGGTGCAAATGGTT	0.333000														17			12		0	0	0.001855	0	0
ARID1A	8289	broad.mit.edu	37	1	27106861	27106861	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:27106861C>T	uc001bmv.1	+	19	6845	c.6472C>T	c.(6472-6474)Cga>Tga	p.R2158*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1941*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R1004*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R486*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.R400*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2158					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R2158*(6)|p.D2157N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAGTGACCGAAAGAACCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									59			35		0	0	0.003271	0	0
STAG2	10735	broad.mit.edu	37	X	123205126	123205126	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:123205126T>A	uc004eua.3	+	24	2890	c.2486T>A	c.(2485-2487)aTt>aAt	p.I829N	STAG2_uc004etz.4_Missense_Mutation_p.I829N|STAG2_uc004eub.3_Missense_Mutation_p.I829N|STAG2_uc004euc.3_Missense_Mutation_p.I829N|STAG2_uc004eud.3_Missense_Mutation_p.I829N|STAG2_uc004eue.3_Missense_Mutation_p.I829N	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	829					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTCAGCTTTATTTTGGATCAT	0.368000														103			28		0	0	0.007291	0	0
SP140	11262	broad.mit.edu	37	2	231155249	231155249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:231155249G>A	uc002vql.3	+	18	1910	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.G485R|SP140_uc002vqm.3_Missense_Mutation_p.G539R|SP140_uc010fxl.3_Missense_Mutation_p.G572R	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	599	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGGGTGAAGGGAATTTTACA	0.403000														48			14		0	0	0.003163	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	A	A	rs112615235	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393000														20			3		0	0	0.004672	0	0
DSPP	1834	broad.mit.edu	37	4	88534261	88534261	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:88534261A>C	uc003hqu.3	+	3	1043	c.923A>C	c.(922-924)gAa>gCa	p.E308A		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	308					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TATGACCCTGAAGGCAAAGAA	0.428000														19			15		0	0	0.004990	0	0
NDN	4692	broad.mit.edu	37	15	23931457	23931457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:23931457G>A	uc001ywk.3	-	0	994	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	303					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTCCCGCAGAGCTCTGGCCTC	0.567000									Prader-Willi syndrome					48			33		0	0	0.009535	0	0
C1orf150	148823	broad.mit.edu	37	1	247737636	247737636	+	Silent	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:247737636T>C	uc001idf.3	+	4	507	c.360T>C	c.(358-360)ccT>ccC	p.P120P	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	120										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTAGTAGGCCTTGTTCCTGCA	0.428000														31			12		0	0	0.001368	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162174	142162174	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:142162174A>G	uc011krx.2	-	1	116	c.101T>C	c.(100-102)aTa>aCa	p.I34T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.I34T					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		GCTCTGTCCTATCTTCAGGAT	0.502000														134			5		0	0	0.000602	0	0
OR4C15	81309	broad.mit.edu	37	11	55321940	55321940	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:55321940G>A	uc010rig.2	+	0	158	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTCCTTGGGAAACATGCAA	0.358000										HNSCC(20;0.049)				114			41		0	0	0.002522	0	0
MUC16	94025	broad.mit.edu	37	19	9063802	9063802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:9063802C>T	uc002mkp.3	-	2	23848	c.23644G>A	c.(23644-23646)Gac>Aac	p.D7882N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7884	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						GTGGAGATGTCTGGTGATATT	0.507000														75			16		0	0	0.003163	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419290	65419290	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:65419290C>T	uc011kds.2	+	1	526	c.424C>T	c.(424-426)Ccc>Tcc	p.P142S	VKORC1L1_uc003tul.3_3'UTR|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	AGGACTGACGCCCGACAGACT	0.428000														24			10		0	0	0.000978	0	0
NRXN3	9369	broad.mit.edu	37	14	79933605	79933605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:79933605C>T	uc001xun.3	+	12	2676	c.2185C>T	c.(2185-2187)Ctc>Ttc	p.L729F	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.L97F|NRXN3_uc010asw.3_Missense_Mutation_p.L97F|NRXN3_uc001xur.4_Missense_Mutation_p.L97F	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	97					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGCTTATCCTCTACACCTG	0.562000														54			12		0	0	0.000978	0	0
EPHA4	2043	broad.mit.edu	37	2	222428599	222428599	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:222428599G>A	uc002vmq.3	-	2	717	c.675C>T	c.(673-675)tcC>tcT	p.S225S	EPHA4_uc002vmr.2_Silent_p.S225S|EPHA4_uc010zlm.1_Silent_p.S166S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	225	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTTCCACCAGGGAAGACGTAT	0.512000														75			25		0	0	0.004656	0	0
FBXO40	51725	broad.mit.edu	37	3	121341342	121341342	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:121341342T>C	uc003eeg.2	+	2	1276	c.1066T>C	c.(1066-1068)Tac>Cac	p.Y356H		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	356					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TCCTGTGAGCTACTGTGGAAA	0.478000														41			38		0	0	0.004289	0	0
SPRED2	200734	broad.mit.edu	37	2	65540880	65540881	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:65540880_65540881GG>AT	uc002sdr.4	-	5	1546_1547	c.1011_1012CC>AT	c.(1009-1014)atccgc>atATgc	p.R338C	SPRED2_uc010fcw.3_Missense_Mutation_p.R335C	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	338	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CTCACCCGGCGGATGCAAGTTC	0.624000														95			23		0	0	0.004672	0	0
CDH4	1002	broad.mit.edu	37	20	60504712	60504712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:60504712G>A	uc002ybn.2	+	12	2139	c.2051G>A	c.(2050-2052)gGg>gAg	p.G684E	CDH4_uc002ybr.2_Missense_Mutation_p.G647E|CDH4_uc002ybp.2_Missense_Mutation_p.G610E	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	684	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.A683A(2)|p.G684W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTGGAGGCCGGGATGTATGAC	0.552000														55			45		0	0	0.003610	0	0
HRC	3270	broad.mit.edu	37	19	49657367	49657367	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:49657367C>T	uc002pmv.3	-	0	1315	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	376					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCCTCTTCCTCATCTACAA	0.532000														85			11		0	0	0.000978	0	0
ARSE	415	broad.mit.edu	37	X	2853151	2853151	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:2853151A>C	uc011mhh.2	-	11	2028	c.1567T>G	c.(1567-1569)Tgc>Ggc	p.C523G	ARSE_uc011mhi.2_Missense_Mutation_p.C444G|ARSE_uc004crc.4_Missense_Mutation_p.C498G			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	498					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGCACGGGCAGACCTTTCTT	0.522000														13			13		0	0	0.004990	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593136	7593136	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:7593136C>T	uc002mgo.3	+	6	1011	c.870C>T	c.(868-870)ttC>ttT	p.F290F	MCOLN1_uc002mgp.3_Silent_p.F255F	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	290					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGTGTCTTCCAGCACGGTG	0.647000														22			17		0	0	0.004990	0	0
PLG	5340	broad.mit.edu	37	6	161143576	161143576	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:161143576G>A	uc003qtm.4	+	9	1345	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	411	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCACCAGAAGACCCCAGAAA	0.478000														17			24		0	0	0.004656	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457127	42457127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:42457127G>A	uc002igt.1	-	17	1840	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	ITGA2B_uc002igu.1_Missense_Mutation_p.S84F	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	603					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGGCGGTAGGGACACATTGAG	0.612000														84			59		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203277	140203277	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:140203277C>T	uc003lhl.2	+	0	1917	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	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.T639T|PCDHAC2_uc003lhj.1_Silent_p.T639T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	651	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)			TGGATGAGACCGAAGCACCGC	0.642000														42			20		0	0	0.010504	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101883	82101883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:82101883G>A	uc002fgv.3	+	1	546	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	125					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAGGAATTGCGAAGAACCTGC	0.527000														22			21		0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100681386	100681386	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:100681386T>A	uc003uxp.1	+	2	6742	c.6689T>A	c.(6688-6690)aTg>aAg	p.M2230K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2230	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCATGCCGGTAGTT	0.502000														329			56		0	0	0.003610	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417545	14417545	+	RNA	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:14417545T>C	uc002yiy.3	+	2		c.2820T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GTGGAATTTTTACTGACAAAA	0.299000														8			3		0	0	0.004672	0	0
OR4D10	390197	broad.mit.edu	37	11	59244987	59244987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:59244987C>T	uc001nnz.1	+	0	85	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCTTATTTCTTTTCCTACT	0.423000														98			72		0	0	0.003610	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938440	30938440	+	RNA	SNP	A	G	G	rs115448147	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:30938440A>G	uc010azv.1	+	10		c.1250A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTCCTTTGCTATTTGTGCATG	0.493000														29			3		0	0	0.004672	0	0
ZNF212	7988	broad.mit.edu	37	7	148951021	148951021	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:148951021C>G	uc003wfp.3	+	4	1131	c.1003C>G	c.(1003-1005)Ctg>Gtg	p.L335V		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGCCACACATCTGCGCAGCCA	0.577000														56			18		0	0	0.004990	0	0
DSCAM	1826	broad.mit.edu	37	21	42080602	42080602	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:42080602G>A	uc002yyq.1	-	1	591	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	47	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTGCTGCGGGGCAGGGCACC	0.592000														91			55		0	0	0.003610	0	0
CEACAM1	634	broad.mit.edu	37	19	43031363	43031363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:43031363C>T	uc002otv.3	-	1	389	c.254G>A	c.(253-255)gGa>gAa	p.G85E	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G85E|CEACAM1_uc002otw.3_Missense_Mutation_p.G85E|CEACAM1_uc002otx.3_Missense_Mutation_p.G85E|CEACAM1_uc002oty.3_Missense_Mutation_p.G85E|CEACAM1_uc002otz.3_Missense_Mutation_p.G85E|CEACAM1_uc010eik.3_Missense_Mutation_p.G85E|CEACAM1_uc002oua.3_Missense_Mutation_p.G85E|CEACAM1_uc002oub.3_Missense_Mutation_p.G85E|CEACAM1_uc002ouc.3_Missense_Mutation_p.G85E	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	85	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TTGTTGAGTTCCTATTGCATA	0.507000														214			21		0	0	0.005443	0	0
RIMS1	22999	broad.mit.edu	37	6	72889559	72889559	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:72889559C>T	uc003pga.3	+	4	830	c.753C>T	c.(751-753)gcC>gcT	p.A251A	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	251					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			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)				CGCAGCAAGCCTTGGGGCCTG	0.557000														10			13		0	0	0.001855	0	0
DPYD	1806	broad.mit.edu	37	1	97981298	97981298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:97981298G>A	uc001drv.3	-	12	1861	c.1724C>T	c.(1723-1725)aCt>aTt	p.T575I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	575					'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)	AAGAGAGAAAGTTTTGGTGAG	0.328000														23			12		0	0	0.001368	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77040134	77040134	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:77040134C>T	uc002jwt.3	+	0	460	c.378C>T	c.(376-378)ccC>ccT	p.P126P	C1QTNF1_uc002jwp.3_Silent_p.P28P|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Silent_p.P38P|C1QTNF1_uc002jws.3_Silent_p.P28P	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	28	Collagen-like.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GTCGTGTGCCCCATGTCCAGG	0.662000														41			28		0	0	0.006320	0	0
LRRC16B	90668	broad.mit.edu	37	14	24530818	24530818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:24530818C>T	uc001wlj.2	+	26	2574	c.2417C>T	c.(2416-2418)cCc>cTc	p.P806L	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	806										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTCACTGTGCCCCGGAACTTC	0.602000														38			11		0	0	0.002450	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057948	114057948	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:114057948C>T	uc003ebi.3	-	4	2310	c.2130G>A	c.(2128-2130)acG>acA	p.T710T	ZBTB20_uc003ebj.3_Silent_p.T637T|ZBTB20_uc010hqp.3_Silent_p.T637T|ZBTB20_uc003ebk.3_Silent_p.T637T|ZBTB20_uc003ebl.3_Silent_p.T637T|ZBTB20_uc003ebm.3_Silent_p.T637T|ZBTB20_uc003ebn.3_Silent_p.T637T	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGTCCCCTCCGTGCAGGCCA	0.632000														31			24		0	0	0.002299	0	0
LRP1B	53353	broad.mit.edu	37	2	141459374	141459374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:141459374C>T	uc002tvj.1	-	39	7315	c.6343G>A	c.(6343-6345)Gat>Aat	p.D2115N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2115					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)		TCTGTGGCATCATTCTTGTGG	0.428000										TSP Lung(27;0.18)				38			27		0	0	0.009535	0	0
CKAP5	9793	broad.mit.edu	37	11	46801774	46801774	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:46801774G>A	uc001ndi.2	-	19	2529	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	CKAP5_uc009ylg.1_Silent_p.L687L|CKAP5_uc001ndj.2_Silent_p.L801L|Metazoa_SRP_uc021qiq.1_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	801					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTGGGATAGGAGGGCAGGCT	0.453000														29			18		0	0	0.008871	0	0
MLL	4297	broad.mit.edu	37	11	118362000	118362000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:118362000C>T	uc001pta.3	+	13	4809	c.4786C>T	c.(4786-4788)Cat>Tat	p.H1596Y	MLL_uc001ptb.3_Missense_Mutation_p.H1596Y|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1596					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCGCTGGGTCCATTCCAAATG	0.388000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									63			22		0	0	0.004656	0	0
FGF7	2252	broad.mit.edu	37	15	49775436	49775436	+	Silent	SNP	A	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr15:49775436A>G	uc001zxn.3	+	2	904	c.375A>G	c.(373-375)ggA>ggG	p.G125G	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	125					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACAAGGAAGGAAAACTCTATG	0.343000														18			5		0	0	0.001168	0	0
GBP6	163351	broad.mit.edu	37	1	89844118	89844118	+	Missense_Mutation	SNP	G	A	A	rs144008165		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:89844118G>A	uc001dnf.2	+	4	845	c.571G>A	c.(571-573)Ggt>Agt	p.G191S	GBP6_uc010ost.1_Missense_Mutation_p.G61S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	191							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GAAGTTGAACGGTCACCCTAT	0.493000														79			24		0	0	0.003954	0	0
RIBC1	158787	broad.mit.edu	37	X	53457879	53457879	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:53457879C>T	uc004dsk.3	+	7	1287	c.1083C>T	c.(1081-1083)atC>atT	p.I361I		NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	361										lung(2)	2						ATTCAGTAATCTACACCAATC	0.498000														104			9		0	0	0.000978	0	0
UNC93A	54346	broad.mit.edu	37	6	167721377	167721377	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:167721377G>A	uc003qvq.3	+	6	1262	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	UNC93A_uc003qvr.3_Missense_Mutation_p.V321I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	363						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCAGATGCCGTCTGGCAGAC	0.607000														10			20		0	0	0.010504	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221451	1221451	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:1221451G>A	uc001adt.1	+	6	930	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SCNN1D_uc001adu.1_Missense_Mutation_p.G71D|SCNN1D_uc001adw.2_Missense_Mutation_p.G137D|SCNN1D_uc001adv.2_Missense_Mutation_p.G71D|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACCATCCACGGCGCCATCCGC	0.701000														7			6		0	0	0.001168	0	0
STIL	6491	broad.mit.edu	37	1	47735459	47735459	+	Silent	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:47735459G>T	uc001crd.1	-	13	2618	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.S774S|STIL_uc010omo.1_Silent_p.S821S|STIL_uc001crc.1_Silent_p.S821S|STIL_uc001cre.1_Silent_p.S821S|STIL_uc001crf.1_Silent_p.S434S|STIL_uc001crg.1_Silent_p.S774S	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	821					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGTCCTCACTGGAAATTTTGG	0.378000														55			11		6.40141e-05	6.84719e-05	0.000978	1	0
RBPJ	3516	broad.mit.edu	37	4	26432080	26432080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:26432080G>A	uc003grx.2	+	10	1359	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	RBPJ_uc003gry.2_Missense_Mutation_p.G360R|RBPJ_uc003grz.2_Missense_Mutation_p.G375R|RBPJ_uc003gsa.2_Missense_Mutation_p.G361R|RBPJ_uc003gsb.2_Missense_Mutation_p.G362R	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	375	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGAACTTACAGGACAGAATTT	0.383000														27			34		0	0	0.004289	0	0
OR2A5	393046	broad.mit.edu	37	7	143748039	143748039	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:143748039T>C	uc011ktw.2	+	0	545	c.545T>C	c.(544-546)cTg>cCg	p.L182P		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I181I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTGAAATCCTGTCTGTCCTC	0.567000														98			136		0	0	0.003610	0	0
EVC2	132884	broad.mit.edu	37	4	5624705	5624705	+	Missense_Mutation	SNP	C	T	T	rs144420242	byFrequency	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:5624705C>T	uc003gij.3	-	13	2114	c.2060G>A	c.(2059-2061)cGt>cAt	p.R687H	EVC2_uc003gik.3_Missense_Mutation_p.R607H|EVC2_uc011bwb.2_Missense_Mutation_p.R127H	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	687						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTCCCTACGCTGCTCCCT	0.592000														34			19		0	0	0.006122	0	0
OR5B21	219968	broad.mit.edu	37	11	58274899	58274899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:58274899G>A	uc010rki.2	-	0	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCTTCAGCAGAATGCATCCT	0.453000														79			15		0	0	0.004007	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598304	58598304	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:58598304G>C	uc010yht.1	-	4	912	c.882C>G	c.(880-882)aaC>aaG	p.N294K	ZSCAN18_uc002qrj.3_Missense_Mutation_p.N238K|ZSCAN18_uc010yhs.1_Missense_Mutation_p.N103K|ZSCAN18_uc002qrh.2_Missense_Mutation_p.N238K|ZSCAN18_uc002qri.2_Missense_Mutation_p.N238K|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCTCTTCAGGTTCTCCTCGG	0.637000														58			6		0	0	0.001168	0	0
AFM	173	broad.mit.edu	37	4	74363443	74363443	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:74363443G>T	uc003hhb.3	+	9	1297	c.1266G>T	c.(1264-1266)ttG>ttT	p.L422F		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	422	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCAGAATTTGGGGAAGGATG	0.363000														13			9		6.40141e-05	6.84719e-05	0.000978	1	0
LLGL1	3996	broad.mit.edu	37	17	18137691	18137691	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:18137691G>A	uc002gsp.3	+	6	880	c.819G>A	c.(817-819)acG>acA	p.T273T		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	273					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTCCCAACGCTGCAGCCCA	0.617000														18			4		0	0	0.000602	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560359	44560359	+	Missense_Mutation	SNP	G	A	A	rs150911848		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr18:44560359G>A	uc002lcr.1	-	0	1630	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	426					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCTTAGCCGAATCCCAGGA	0.547000														94			20		0	0	0.007413	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100908	85100908	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:85100908C>T	uc002fiu.3	+	1	451	c.231C>T	c.(229-231)tcC>tcT	p.S77S	KIAA0513_uc010voj.2_Silent_p.S77S|KIAA0513_uc002fit.3_Silent_p.S77S	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	77						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCAACGAGTCCTTCTCCTCCA	0.592000														53			12		0	0	0.001368	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231258	94231258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:94231258C>T	uc001pew.3	+	2	419	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.	94					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGGAGACTCCTTTCTGAAAA	0.408000														43			39		0	0	0.007835	0	0
IGH	0	broad.mit.edu	37	16	33020717	33020717	+	RNA	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:33020717C>T	uc021thd.1	+	0		c.65C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		CTGTCCTGTCCAGCCTCTGGA	0.577000														118			105		0	0	0.003610	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35510325	35510325	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:35510325G>A	uc010xsf.1	+	12	1378	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R	GRAMD1A_uc010xse.1_Missense_Mutation_p.G455R|GRAMD1A_uc002nxk.2_Missense_Mutation_p.G448R|GRAMD1A_uc002nxl.2_Missense_Mutation_p.G221R|GRAMD1A_uc002nxn.1_Missense_Mutation_p.G70R	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	455						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGGCCGGCGGGTGTGTGGT	0.687000														70			18		0	0	0.007413	0	0
GLP2R	9340	broad.mit.edu	37	17	9783717	9783717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:9783717C>T	uc002gmd.1	+	10	1168	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	390					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AACACTGGTCCTCATTCCTTT	0.413000														122			69		0	0	0.003610	0	0
CDH12	1010	broad.mit.edu	37	5	21752058	21752058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:21752058C>T	uc010iuc.2	-	11	2631	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	CDH12_uc011cno.1_Missense_Mutation_p.D685N|CDH12_uc003jgk.2_Missense_Mutation_p.D725N|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D725D(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGATCCACATCATTTTCCTGT	0.483000										HNSCC(59;0.17)				52			37		0	0	0.003755	0	0
SPON1	10418	broad.mit.edu	37	11	14284295	14284295	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:14284295G>A	uc001mle.3	+	15	2299	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	678	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCCAGTGGTCGGAATGTAACA	0.532000														33			18		0	0	0.007413	0	0
SLC1A1	6505	broad.mit.edu	37	9	4567670	4567670	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:4567670A>G	uc003zij.2	+	6	737	c.484_splice	c.e6-1	p.Y162_splice	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	162					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	AACATGCAGTACAAAACTAAG	0.388000														10			9		0	0	0.008291	0	0
C1orf172	126695	broad.mit.edu	37	1	27278858	27278858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:27278858C>T	uc001bni.2	-	1	107	c.14G>A	c.(13-15)gGa>gAa	p.G5E	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	5	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGGGGTGTCCAGGGCGGGG	0.617000														55			39		0	0	0.006999	0	0
CNPPD1	27013	broad.mit.edu	37	2	220039719	220039719	+	Silent	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:220039719C>G	uc002vju.4	-	3	524	c.372G>C	c.(370-372)ctG>ctC	p.L124L	CNPPD1_uc002vjv.3_Silent_p.L124L	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	124					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCATGGAGATCAGGAACAAGT	0.547000														63			13		0	0	0.003163	0	0
PRDM14	63978	broad.mit.edu	37	8	70981781	70981781	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr8:70981781G>A	uc003xym.3	-	1	517	c.315C>T	c.(313-315)ccC>ccT	p.P105P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGGGGACGTGGGGAATTGGGT	0.637000														8			11		0	0	0.008291	0	0
UMODL1	89766	broad.mit.edu	37	21	43547871	43547871	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr21:43547871A>T	uc002zag.1	+	18	4004	c.4004A>T	c.(4003-4005)aAc>aTc	p.N1335I	UMODL1_uc002zad.1_Missense_Mutation_p.N1135I|UMODL1_uc002zae.1_Missense_Mutation_p.N1263I|UMODL1_uc002zaf.1_Missense_Mutation_p.N1207I|UMODL1_uc002zal.1_Missense_Mutation_p.N157I|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1207						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCCTTTATCAACGACTCCATC	0.488000														61			12		0	0	0.001855	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713657	30713657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:30713657C>T	uc003ceo.3	+	3	1364	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	TGFBR2_uc021wut.1_Missense_Mutation_p.H206Y|TGFBR2_uc003cen.3_Missense_Mutation_p.H353Y	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	328	Protein kinase.		H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.H328Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCGCCTTCCACGCCAAGGG	0.587000														47			37		0	0	0.004289	0	0
ATP1B2	482	broad.mit.edu	37	17	7554890	7554890	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:7554890G>A	uc002gif.1	+	0	637	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	18					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		AGGAGTGGAAGGAGTTCGTGT	0.692000														8			9		0	0	0.006214	0	0
ZNF195	7748	broad.mit.edu	37	11	3381179	3381179	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:3381179G>A	uc001lxt.3	-	5	1241	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	ZNF195_uc010qxr.2_Silent_p.P334P|ZNF195_uc009ydz.3_Silent_p.P308P|ZNF195_uc001lxu.3_Silent_p.P285P|ZNF195_uc001lxv.3_Silent_p.P330P|ZNF195_uc021qck.1_Silent_p.P285P|ZNF195_uc001lxs.3_Silent_p.P281P	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	353				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D352Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATATTTGCAGGGTTTTTCCT	0.418000														99			49		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38793930	38793930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:38793930C>T	uc003ciq.3	-	10	1535	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	512					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGATATCTCGGCCAGGGGA	0.587000														45			9		0	0	0.000978	0	0
LRP6	4040	broad.mit.edu	37	12	12300476	12300476	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:12300476G>A	uc001rah.4	-	14	3363	c.3221C>T	c.(3220-3222)aCc>aTc	p.T1074I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.T1074I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1074	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGAAGATTGGTAAAATACAT	0.378000														187			52		0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1457561	1457561	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:1457561C>T	uc002qwr.3	+	5	664	c.578C>T	c.(577-579)cCc>cTc	p.P193L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P193L|TPO_uc002qwx.3_Missense_Mutation_p.P193L|TPO_uc002qwu.3_Missense_Mutation_p.P193L|TPO_uc010yio.2_Missense_Mutation_p.P193L|TPO_uc010yip.2_Missense_Mutation_p.P193L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	193					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.P193P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCTGGAACCCCGGCTTCTTG	0.607000														54			5		0	0	0.000602	0	0
PRR15L	79170	broad.mit.edu	37	17	46030598	46030598	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:46030598C>T	uc002imp.3	-	1	120	c.3G>A	c.(1-3)atG>atA	p.M1I	PRR15L_uc021tzd.1_Missense_Mutation_p.M1I	NM_024320	NP_077296	Q9BU68	PR15L_HUMAN	Homo sapiens proline rich 15-like (PRR15L), mRNA.	1										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						TTTCAGTCGTCATGGCGCTCC	0.547000														82			49		0	0	0.003610	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453447	20453447	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:20453447C>T	uc001iqg.1	+	6	1471	c.834C>T	c.(832-834)gtC>gtT	p.V278V	PLXDC2_uc001iqh.1_Silent_p.V229V|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	278						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGTGAAAGTCGGACTGTCCG	0.428000														9			10		0	0	0.001855	0	0
VWA5A	4013	broad.mit.edu	37	11	123989325	123989325	+	Silent	SNP	C	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:123989325C>G	uc001pzu.3	+	5	764	c.555C>G	c.(553-555)acC>acG	p.T185T	VWA5A_uc001pzr.3_Silent_p.T185T|VWA5A_uc001pzs.3_Silent_p.T185T|VWA5A_uc010sae.2_Silent_p.T201T|VWA5A_uc001pzt.3_Silent_p.T185T	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	185										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGGTCGCCACCATAGATTCCC	0.502000														104			15		0	0	0.002450	0	0
STAB1	23166	broad.mit.edu	37	3	52557513	52557513	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:52557513G>A	uc003dej.3	+	64	7285	c.7211G>A	c.(7210-7212)gGg>gAg	p.G2404E	STAB1_uc003dek.1_Missense_Mutation_p.G419E|STAB1_uc003del.3_Missense_Mutation_p.G291E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2404	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCAGCCAGGGGAAGTTGCTT	0.632000														26			21		0	0	0.010504	0	0
BCOR	54880	broad.mit.edu	37	X	39930225	39930225	+	Splice_Site	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:39930225C>A	uc004den.4	-	6	3530	c.3238_splice	c.e6+1	p.C1080_splice	BCOR_uc004dep.4_Splice_Site_p.C1080_splice|BCOR_uc004deo.4_Splice_Site_p.C1062_splice|BCOR_uc004dem.4_Splice_Site_p.C1080_splice	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1080					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTTACTTACATCTCTCACT	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							76			20		3.51602e-12	3.89092e-12	0.008871	1	0
CCT3	7203	broad.mit.edu	37	1	156303399	156303399	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:156303399G>A	uc001fol.2	-	4	474	c.243C>T	c.(241-243)atC>atT	p.I81I	CCT3_uc010phj.2_Silent_p.I35I|CCT3_uc010phk.2_Silent_p.I35I|CCT3_uc001fon.2_Silent_p.I43I|CCT3_uc010phl.2_Silent_p.I35I	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	81					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGCTAATTTCGATCATGGACT	0.423000														78			21		0	0	0.004656	0	0
MYH9	4627	broad.mit.edu	37	22	36689888	36689888	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:36689888C>T	uc003apg.3	-	28	4090	c.3859G>A	c.(3859-3861)Ggg>Agg	p.G1287R		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1287					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGAGAAGCCCGGTCACGTTG	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					21			7		0	0	0.001984	0	0
ALDH2	217	broad.mit.edu	37	12	112219760	112219760	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:112219760G>A	uc001tst.3	+	1	249	c.153G>A	c.(151-153)agG>agA	p.R51R	ALDH2_uc010syi.2_Silent_p.R51R	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.R51K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCGTCAGCAGGAAAACATTCC	0.483000			T	HMGA2	leiomyoma									20			30		0	0	0.002445	0	0
OR2F1	26211	broad.mit.edu	37	7	143657103	143657103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:143657103C>T	uc003wds.1	+	0	84	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGAATTTATTCTCCTCGGCCT	0.448000														91			242		0	0	0.003610	0	0
TUB	7275	broad.mit.edu	37	11	8111659	8111659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:8111659C>T	uc001mga.3	+	2	283	c.134C>T	c.(133-135)cCc>cTc	p.P45L	TUB_uc010rbk.2_Missense_Mutation_p.P51L|TUB_uc001mfy.3_Missense_Mutation_p.P100L	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	45					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCAGGAGCCCCTGATGGTG	0.677000														10			13		0	0	0.002450	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162184	142162184	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:142162184T>C	uc011krx.2	-	1	106	c.91A>G	c.(91-93)Atc>Gtc	p.I31V	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.I31V					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		ATCTTCAGGATGCGGAATTTT	0.522000														135			5		0	0	0.000602	0	0
ARG1	383	broad.mit.edu	37	6	131904498	131904498	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr6:131904498G>A	uc003qcp.2	+	6	748	c.669G>A	c.(667-669)aaG>aaA	p.K223K	ARG1_uc003qco.2_Intron|ARG1_uc010kfm.2_Silent_p.K231K|MED23_uc003qcq.3_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.	223					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TTAAAAGAAAGAAAAGGCCAA	0.393000														43			14		0	0	0.001855	0	0
ASIC4	55515	broad.mit.edu	37	2	220379942	220379942	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:220379942C>T	uc002vlz.3	+	0	1051	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	ASIC4_uc010fwi.2_Missense_Mutation_p.L293F|ASIC4_uc010fwj.2_Missense_Mutation_p.L293F|ASIC4_uc002vly.2_Missense_Mutation_p.L293F|ASIC4_uc002vma.3_Missense_Mutation_p.L293F|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	293						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GGTAGACATCCTCAACCGCAC	0.612000														41			11		0	0	0.000978	0	0
TLR7	51284	broad.mit.edu	37	X	12904189	12904189	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:12904189C>T	uc004cvc.3	+	2	701	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	188					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTATCGAAATCCTTGTTATGT	0.388000														59			11		0	0	0.000978	0	0
OR5D13	390142	broad.mit.edu	37	11	55541346	55541346	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:55541346C>T	uc010ril.2	+	0	433	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTCTGTGCTCTTCTGGTGGC	0.418000														186			82		0	0	0.003610	0	0
OTOP2	92736	broad.mit.edu	37	17	72920943	72920943	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:72920943G>A	uc010wrp.2	+	1	308	c.216G>A	c.(214-216)ctG>ctA	p.L72L	USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.L72L	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	72						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGATGCTGCTGGCAACGCTCT	0.662000														16			7		0	0	0.001984	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552525	1552525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr20:1552525C>T	uc010gai.3	-	2	691	c.592G>A	c.(592-594)Gac>Aac	p.D198N	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	198	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.D198G(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGCGGGGTCCACGTTGGTC	0.557000														75			45		0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124411202	124411202	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:124411202G>A	uc001uft.4	+	67	11611	c.11586G>A	c.(11584-11586)atG>atA	p.M3862I	DNAH10_uc001ufu.4_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3862	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCCCCAATGATCAGCTTTG	0.517000														17			25		0	0	0.004656	0	0
CASP3	836	broad.mit.edu	37	4	185550459	185550459	+	Silent	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:185550459G>T	uc003iwh.3	-	7	1064	c.801C>A	c.(799-801)tcC>tcA	p.S267S	CASP3_uc003iwg.3_3'UTR|CASP3_uc003iwi.3_Silent_p.S267S	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	267					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)	TTGTGAGCATGGAAACAATAC	0.368000														123			21		1.9806e-07	2.15453e-07	0.002299	1	0
CNTD1	124817	broad.mit.edu	37	17	40956324	40956324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr17:40956324G>A	uc002ibm.4	+	2	559	c.327G>A	c.(325-327)tgG>tgA	p.W109*	CNTD1_uc010wha.2_Nonsense_Mutation_p.W26*	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	109	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCAGAATTGGAGGGCTCTGA	0.473000														75			40		0	0	0.003214	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149132	142149132	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:142149132C>A	uc010lnw.1	-	1	221	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCTTGTGCCCAGAGATAGGA	0.517000														102			20		4.63292e-17	5.17164e-17	0.008871	1	0
SMARCA2	6595	broad.mit.edu	37	9	2123808	2123808	+	Silent	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr9:2123808C>T	uc003zhc.3	+	26	3951	c.3852C>T	c.(3850-3852)atC>atT	p.I1284I	SMARCA2_uc003zhd.3_Silent_p.I1284I|SMARCA2_uc010mha.3_Silent_p.I1217I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1284					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.D1284G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTCCTGGATCATTAAGGATG	0.567000														10			15		0	0	0.004007	0	0
SCFD1	23256	broad.mit.edu	37	14	31169460	31169460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr14:31169460C>T	uc001wqm.1	+	15	1430	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	SCFD1_uc001wqn.1_Missense_Mutation_p.S402F|SCFD1_uc010tpg.1_Missense_Mutation_p.S410F|SCFD1_uc010tph.1_Missense_Mutation_p.S284F|SCFD1_uc010amf.1_Missense_Mutation_p.S284F|SCFD1_uc010tpi.1_Missense_Mutation_p.S377F|SCFD1_uc010amd.1_Missense_Mutation_p.S301F	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	469					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAAGCACCTTCTGAGGTATGT	0.358000														60			15		0	0	0.002450	0	0
OR51B4	79339	broad.mit.edu	37	11	5322610	5322610	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:5322610G>A	uc010qza.2	-	0	567	c.567C>T	c.(565-567)atC>atT	p.I189I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTAAACGTGATATCAGCAC	0.373000														47			24		0	0	0.005443	0	0
HTA	283902	broad.mit.edu	37	16	73127399	73127399	+	RNA	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:73127399G>A	uc010vmq.2	+	2		c.805G>A								Homo sapiens uncharacterized LOC283902 (HTA), non-coding RNA.																		AGAAGAGATGGAGTCATAGCT	0.572000														9			4		0	0	0.009096	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040720	147040720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr5:147040720C>T	uc010jgo.1	-	1	566	c.418G>A	c.(418-420)Gag>Aag	p.E140K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E140K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E98K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E140K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	140						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGGGCCTCCTCCCGGGCC	0.557000														110			26		0	0	0.005443	0	0
SORL1	6653	broad.mit.edu	37	11	121485591	121485591	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:121485591A>G	uc001pxx.3	+	40	5560	c.5431A>G	c.(5431-5433)Aca>Gca	p.T1811A	SORL1_uc010rzp.1_Missense_Mutation_p.T657A|SORL1_uc010rzq.1_Missense_Mutation_p.T426A	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1811	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGCAATCTGACAGCTCATAC	0.468000														73			27		0	0	0.007291	0	0
MTM1	4534	broad.mit.edu	37	X	149809808	149809808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chrX:149809808C>T	uc004fef.4	+	7	671	c.595C>T	c.(595-597)Cct>Tct	p.P199S	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P162S|MTM1_uc011mxz.2_Missense_Mutation_p.P84S|MTM1_uc010nte.3_Missense_Mutation_p.P67S	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	199	Myotubularin phosphatase.		P -> S (in XCNM).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGACACTTACCCTGCTCTTTT	0.423000														61			21		0	0	0.001882	0	0
MYOF	26509	broad.mit.edu	37	10	95111307	95111307	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:95111307G>A	uc001kin.3	-	33	3808	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	MYOF_uc001kio.3_Nonsense_Mutation_p.R1216*|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1229	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAATGCTTCGTCCTAAAAAT	0.428000														70			6		0	0	0.001168	0	0
HPSE	10855	broad.mit.edu	37	4	84231203	84231203	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr4:84231203C>T	uc003hoj.4	-	5	970	c.871G>A	c.(871-873)Gat>Aat	p.D291N	HPSE_uc003hoi.3_Missense_Mutation_p.D233N|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.D34N|HPSE_uc003hok.4_Missense_Mutation_p.D291N|HPSE_uc011cct.2_Missense_Mutation_p.D291N	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	291				D -> G (in Ref. 9; BAD96706).	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	p.D291H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTAACTGAATCAATCACTTCT	0.308000														71			58		0	0	0.003610	0	0
FAM5B	57795	broad.mit.edu	37	1	177242650	177242650	+	Silent	SNP	G	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:177242650G>T	uc001glf.3	+	4	1008	c.696G>T	c.(694-696)ctG>ctT	p.L232L	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.L127L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	232						extracellular region		p.P231H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCGGTCCTCTGGGCTGCAGCA	0.488000														37			18		1.01871e-10	1.12088e-10	0.008871	1	0
ERMN	57471	broad.mit.edu	37	2	158178151	158178151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:158178151G>A	uc002tzi.3	-	3	681	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ERMN_uc010zcj.2_Nonsense_Mutation_p.R57*|ERMN_uc002tzh.3_Nonsense_Mutation_p.R163*|ERMN_uc010zck.2_Nonsense_Mutation_p.R143*	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	163						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTAGGTTTTCGAAATCCCAGC	0.418000														65			40		0	0	0.007835	0	0
KCNK18	338567	broad.mit.edu	37	10	118969366	118969366	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr10:118969366G>A	uc010qsr.2	+	2	711	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	237						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TAGAGAAACAGAACACACTGC	0.532000														34			34		0	0	0.002836	0	0
TRANK1	9881	broad.mit.edu	37	3	36873681	36873681	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr3:36873681C>T	uc003cgj.3	-	20	7509	c.7261G>A	c.(7261-7263)Gtg>Atg	p.V2421M		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2421					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCAGCACCACCCCACAGTGG	0.512000														93			26		0	0	0.002096	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524784	26524784	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:26524784C>T	uc010oez.2	+	5	686	c.686C>T	c.(685-687)tCc>tTc	p.S229F	CATSPER4_uc010oey.1_Missense_Mutation_p.S51F|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	229					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTTTTTTCCGTGTTTGGA	0.493000														327			73		0	0	0.003610	0	0
PLVAP	83483	broad.mit.edu	37	19	17476249	17476249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr19:17476249C>T	uc002ngk.1	-	2	1065	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	342						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGGTCTGCCGGGAGCATTC	0.647000														48			12		0	0	0.001855	0	0
INSC	387755	broad.mit.edu	37	11	15247312	15247312	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr11:15247312C>T	uc001mlz.3	+	8	1219	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	INSC_uc001mly.3_Missense_Mutation_p.R417C|INSC_uc001mma.3_Missense_Mutation_p.R370C|INSC_uc010rcs.2_Missense_Mutation_p.R405C|INSC_uc001mmb.3_Missense_Mutation_p.R370C|INSC_uc001mmc.3_Missense_Mutation_p.R328C	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	417					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAATGCCATCCGTGTTCTCCT	0.572000														26			7		0	0	0.001984	0	0
MYO7B	4648	broad.mit.edu	37	2	128387248	128387249	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:128387248_128387249GG>AA	uc002top.3	+	33	4628_4629	c.4575_4576GG>AA	c.(4573-4578)aagggg>aaAAgg	p.G1526R	MYO7B_uc002tor.1_Missense_Mutation_p.G379R	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1526	SH3 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTTCAAGAAGGGGGACCTGTT	0.604000														17			6		0	0	0.004672	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602101	234602101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:234602101C>T	uc002vuv.4	+	0	590	c.451C>T	c.(451-453)Cca>Tca	p.P151S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.P151S	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	152					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D151N(1)|p.T150M(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTCACAGACCCAGCCTTACC	0.512000														84			20		0	0	0.008871	0	0
TRPV4	59341	broad.mit.edu	37	12	110246249	110246249	+	Silent	SNP	G	A	A			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr12:110246249G>A	uc001tpj.2	-	1	506	c.411C>T	c.(409-411)gcC>gcT	p.A137A	TRPV4_uc001tpg.2_Silent_p.A103A|TRPV4_uc021rdp.1_Silent_p.A137A|TRPV4_uc001tph.2_Silent_p.A137A|TRPV4_uc001tpi.2_Silent_p.A137A|TRPV4_uc001tpk.2_Silent_p.A137A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	137					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGGGGCAGGGGCTTTGGGGC	0.657000														25			49		0	0	0.003610	0	0
TBX20	57057	broad.mit.edu	37	7	35293197	35293197	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:35293197G>C	uc011kas.2	-	0	515	c.35C>G	c.(34-36)tCc>tGc	p.S12C		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	12						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCCCGAGAGGAGAGTTGGGG	0.642000														48			13		0	0	0.001855	0	0
BROX	148362	broad.mit.edu	37	1	222902985	222902986	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr1:222902985_222902986delTT	uc001hnq.1	+	9	1175_1176	c.780_781delTT	c.(778-783)actttafs	p.T260fs	BROX_uc010put.1_Frame_Shift_Del_p.T228fs|BROX_uc010puu.1_Frame_Shift_Del_p.T260fs|BROX_uc010puv.1_Frame_Shift_Del_p.T228fs|AK094916_uc001hnr.1_Non-coding_Transcript	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	260	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ATGGTGAGACTTTATTGGCTAG	0.351													---	236	---	---	149	---					
NCL	4691	broad.mit.edu	37	2	232325380	232325394	+	Splice_Site	DEL	CTTCCTCCTCCTCTT	-	-	rs147245704		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr2:232325380_232325394delCTTCCTCCTCCTCTT	uc002vru.3	-	4	952	c.811_splice	c.e4+1	p.E271_splice	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	271	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATTTAAGTACCTTCCTCCTCCTCTTCTTCCTCCTC	0.419													---	89	---	---	12	---					
THSD7A	221981	broad.mit.edu	37	7	11871470	11871481	+	In_Frame_Del	DEL	GCAGCGGCAGCG	-	-			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:11871470_11871481delGCAGCGGCAGCG	uc021zzo.1	-	0	344_355	c.92_103delCGCTGCCGCTGC	c.(91-105)ccgctgccgctgctc>ctc	p.PLPL31del	THSD7A_uc021zzn.1_In_Frame_Del_p.PLPL31del	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	31						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		agcagcaggagcagcggcagcggcagcggcag	0.774										HNSCC(18;0.044)			---	7	---	---	4	---					
EXOC4	60412	broad.mit.edu	37	7	133041262	133041262	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr7:133041262delT	uc003vrk.3	+	5	977	c.942delT	c.(940-942)tctfs	p.S314fs	EXOC4_uc011kpo.2_Frame_Shift_Del_p.S213fs|EXOC4_uc003vri.3_Frame_Shift_Del_p.S314fs|EXOC4_uc003vrj.3_Frame_Shift_Del_p.S314fs	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	314					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGAAGAGGTCTACAACCCAGG	0.478													---	22	---	---	77	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	233	---	---	8	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	-	-	rs13056859	by1000genomes	TCGA-D3-A3C3-06A-12D-A19A-08	TCGA-D3-A3C3-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	473ea20c-b4b1-4471-afaa-26f1edd826fa	37a990a9-2dbd-4fdd-9b35-a651ca488e61	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	uc003asz.4	+	2	1161_1181	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding	p.N258_A264delNPSAPAA(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													---	3	---	---	5	---					
