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
CDCA7	83879	broad.mit.edu	37	2	174223442	174223442	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:174223442G>A	uc002uic.1	+	1	155	c.24G>A	c.(22-24)caG>caA	p.Q8Q	CDCA7_uc002uid.1_Silent_p.Q8Q|CDCA7_uc010zej.1_Silent_p.Q8Q|CDCA7_uc010zek.1_Intron	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	0					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ATTTGCAGCAGAAAGATCTCA	0.348000														28			13		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958341	38958341	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:38958341G>A	uc002oit.3	+	24	3400	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	RYR1_uc002oiu.3_Silent_p.E1090E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1090	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E1090K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTACTTCGAGTTTGAAGCAG	0.587000														76			41		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206328847	206328847	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:206328847C>T	uc001hdu.3	+	6	1032	c.914C>T	c.(913-915)cCc>cTc	p.P305L	CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	310					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGGGCAGCCCCCGTGGATGGA	0.612000														69			13		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201186493	201186493	+	Missense_Mutation	SNP	G	A	A	rs149553166	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:201186493G>A	uc001gwc.3	+	16	9804	c.9674G>A	c.(9673-9675)cGg>cAg	p.R3225Q	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGCACCTCGGGGCCCCGGC	0.652000														128			39		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224047	50224047	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:50224047C>T	uc003cyj.3	+	18	2012	c.1814_splice	c.e18-1	p.A605_splice	SEMA3F_uc003cyk.3_Splice_Site_p.A574_splice	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	605	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACTCTAAAGCCAACAAGAATG	0.617000														52			21		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35994009	35994009	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:35994009T>A	uc004ddj.3	+	14	2758	c.2692T>A	c.(2692-2694)Ttt>Att	p.F898I	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	898										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGGATAGCATTTTCTATTTG	0.328000														211			25		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629362	1629362	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:1629362C>T	uc001ltw.1	-	0	332	c.254G>A	c.(253-255)gGg>gAg	p.G85E	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	85	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCACAGCCCCCCTTGGAGCC	0.667000														99			61		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740800	16740800	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:16740800C>T	uc010exm.2	-	8	913	c.765G>A	c.(763-765)gtG>gtA	p.V255V	FAM49A_uc002rck.2_Silent_p.V255V	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	255						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCCCACCATCACCCTCATGC	0.473000														61			18		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601921	135601921	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:135601921C>T	uc003lbn.2	-	4	1554	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	TRPC7_uc010jef.2_Missense_Mutation_p.M380I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.M383I|TRPC7_uc010jei.2_Missense_Mutation_p.M328I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	444					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACCCACTTCATAATGAGCA	0.383000														112			10		0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309797	22309797	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22309797G>A	uc001wbx.2	+	1	282	c.181G>A	c.(181-183)Gat>Aat	p.D61N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		GTACAGACAGGATTGCAGGAA	0.468000														36			40		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31144519	31144519	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:31144519G>A	uc003tca.2	+	14	1503	c.1214G>A	c.(1213-1215)gGt>gAt	p.G405D	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G433D|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G432D|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G384D|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G433D	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	405					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTCTGAATGGTGAGGTAAGA	0.522000														205			102		0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004716	101004716	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:101004716T>A	uc010txa.2	-	5	1518	c.1372A>T	c.(1372-1374)Aag>Tag	p.K458*	BEGAIN_uc001yhp.3_Nonsense_Mutation_p.K394*|BEGAIN_uc001yhq.3_Nonsense_Mutation_p.K458*	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	458						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCGGCCTTCTTGCCCGGGCTG	0.721000														7			6		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060148	35060148	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:35060148C>T	uc002xff.3	+	2	463	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	DLGAP4_uc010zvp.2_Missense_Mutation_p.R10C	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	10					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCCGCCCCCGCCACCTCTC	0.716000														44			23		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52504022	52504022	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:52504022A>T	uc010bff.3	-	34	4363	c.4201T>A	c.(4201-4203)Ttc>Atc	p.F1401I	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1401						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACACACATGAACAGGATATGA	0.532000														108			43		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121031050	121031050	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:121031050T>A	uc010rzo.2	+	13	4896	c.4896T>A	c.(4894-4896)gaT>gaA	p.D1632E		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1632	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAACAGATGATTATGTGACCT	0.512000														70			54		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089873	20089873	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:20089873C>T	uc010rdm.2	+	23	5441	c.5080C>T	c.(5080-5082)Cgc>Tgc	p.R1694C	NAV2_uc001mpp.3_Missense_Mutation_p.R1574C|NAV2_uc001mpr.4_Missense_Mutation_p.R1638C|NAV2_uc021qew.1_Missense_Mutation_p.R1638C|NAV2_uc001mpt.2_Missense_Mutation_p.R687C|NAV2_uc009yhx.3_Missense_Mutation_p.R702C|NAV2_uc009yhy.1_Missense_Mutation_p.R600C|NAV2_uc009yhz.3_Missense_Mutation_p.R283C|NAV2_uc001mpu.3_Missense_Mutation_p.R76C	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1694						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCTTTAGATTCGCAAGCTGCG	0.483000														69			25		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315660	217315660	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:217315660C>T	uc002vgc.4	+	11	2273	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	SMARCAL1_uc002vgd.4_Missense_Mutation_p.S648F|SMARCAL1_uc010fvg.3_Missense_Mutation_p.S626F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	648					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGCCTCAAGTCCGACGTCCTT	0.612000									Schimke Immuno-Osseous Dysplasia					61			32		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276752	75276752	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:75276752G>A	uc002fdv.3	-	1	395	c.249C>T	c.(247-249)gcC>gcT	p.A83A	BCAR1_uc010vna.2_Silent_p.A81A|BCAR1_uc010cgu.3_Silent_p.A83A|BCAR1_uc010vnb.2_Silent_p.A129A|BCAR1_uc002fdw.3_Silent_p.A83A|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Silent_p.A101A|BCAR1_uc002fdx.3_Silent_p.A101A	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	83	Pro-rich.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGAGGCTGGGCCGGGGTGG	0.692000														34			22		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132091215	132091215	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:132091215C>T	uc011mvd.1	-	2	984	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	HS6ST2_uc011mvb.1_Missense_Mutation_p.V44M|HS6ST2_uc011mvc.1_Missense_Mutation_p.V44M|HS6ST2_uc011mve.1_Missense_Mutation_p.V190M	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	190						integral to membrane	sulfotransferase activity	p.W189fs*1(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGTCCGGCACCGGGGAGCTG	0.622000														40			19		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285696	47285696	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:47285696G>A	uc002pfs.3	-	3	1388	c.768C>T	c.(766-768)atC>atT	p.I256I	SLC1A5_uc010xyh.2_Silent_p.I54I|SLC1A5_uc002pfq.3_Silent_p.I80I|SLC1A5_uc002pfr.3_Silent_p.I28I	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	256					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	p.I256I(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGAAGAAGCGGATAAGCAGCT	0.602000														74			33		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298927	37298927	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:37298927C>T	uc022abv.1	-	5	982	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.R91Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R91Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	91					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGACTGGATTCGTTCATGGAG	0.502000														54			32		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22231020	22231020	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:22231020G>A	uc004dah.3	+	16	1849	c.1646_splice	c.e16-1	p.R549_splice	PHEX_uc011mjr.2_Splice_Site_p.R549_splice|PHEX_uc011mjs.2_Splice_Site_p.R452_splice	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	549					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCTTCTCATAGGATTTCCAGC	0.398000														145			29		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819306	50819306	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:50819306G>A	uc001jhw.3	+	0	960	c.520G>A	c.(520-522)Gac>Aac	p.D174N	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	174					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTTCGCCGAGGACTACGCCAC	0.652000														26			21		0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150155604	150155604	+	Silent	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:150155604T>C	uc004fep.3	+	3	386	c.294T>C	c.(292-294)tcT>tcC	p.S98S	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.S98S	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	98					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAAGGTCTGGATTCTTCC	0.428000														75			12		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820627	35820627	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:35820627C>T	uc010ngt.1	+	1	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_uc022bus.1_Missense_Mutation_p.P105L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468000														38			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644451	158644451	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158644451G>A	uc001fst.1	-	8	1326	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	376					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAAGTCAGATGAAAATCGATG	0.453000														170			43		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296610	62296610	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:62296610G>A	uc001ntl.3	-	4	5579	c.5279C>T	c.(5278-5280)cCa>cTa	p.P1760L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1760					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCCTTCTGGTCCCTCAAT	0.478000														143			84		0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140045754	140045754	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:140045754G>A	uc003vvo.3	-	10	1207	c.1041C>T	c.(1039-1041)ggC>ggT	p.G347G	SLC37A3_uc003vvp.3_Intron|SLC37A3_uc010lnh.3_Silent_p.G347G|SLC37A3_uc011kqz.2_Non-coding_Transcript	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	347					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CAGAGATGAAGCCTTGCAAAG	0.498000														76			18		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331466	42331466	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:42331466C>T	uc002xlb.1	+	7	1503	c.1288C>T	c.(1288-1290)Ctg>Ttg	p.L430L	MYBL2_uc010zwj.1_Silent_p.L406L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	430						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAGCACCAGTCTGTCCTTCCT	0.612000														97			12		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695261	109695261	+	Silent	SNP	T	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:109695261T>G	uc004eor.2	+	2	1662	c.1416T>G	c.(1414-1416)acT>acG	p.T472T	RGAG1_uc011msr.1_Silent_p.T472T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	472										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGCCAAAACTTCTGGAGCAA	0.512000														207			48		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440109	40440109	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:40440109G>T	uc003gvc.2	-	3	1512	c.802C>A	c.(802-804)Cag>Aag	p.Q268K	RBM47_uc003gvd.2_Missense_Mutation_p.Q268K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.Q230K|RBM47_uc003gvg.1_Missense_Mutation_p.Q268K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	268	RRM 3.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGTTGAACTGGCCGAAGCTC	0.592000														87			7		8.12818e-05	8.19473e-05	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74936505	74936505	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:74936505C>T	uc002jti.3	+	11	1736	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	MGAT5B_uc002jth.3_Missense_Mutation_p.P534S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	536						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTTGGCTTCCCCTACGAGGG	0.652000														155			25		0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102606504	102606504	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:102606504C>T	uc010txu.2	+	0	316	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	WDR20_uc001ylf.3_Missense_Mutation_p.R82C|WDR20_uc001ykz.3_Missense_Mutation_p.R82C|WDR20_uc001yky.2_5'UTR|WDR20_uc001yla.3_Missense_Mutation_p.R82C|WDR20_uc001ylb.3_Missense_Mutation_p.R82C|WDR20_uc001ylc.3_Missense_Mutation_p.R82C|WDR20_uc001yle.3_Missense_Mutation_p.R82C|WDR20_uc001yld.3_Missense_Mutation_p.R82C|HSP90AA1_uc001ykv.4_5'Flank	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	82										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CAAGGGGGTCCGCAAGGTACC	0.662000														28			10		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49735512	49735512	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:49735512C>T	uc003cxh.3	+	6	511	c.425C>T	c.(424-426)tCc>tTc	p.S142F	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	142	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCCTCATCTCCTCCCAGGGG	0.607000														45			18		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807848	20807848	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:20807848G>A	uc002npb.1	-	3	985	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF626_uc002npc.1_Missense_Mutation_p.H203Y	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTTTCCGTATGAATTATCTCA	0.383000														96			12		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42160643	42160643	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:42160643G>A	uc001zos.3	-	32	6238	c.5905C>T	c.(5905-5907)Cag>Tag	p.Q1969*	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2004					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.V1968M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCCCAGCTGGGTGGCCTGC	0.682000														25			5		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22669461	22669461	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:22669461G>A	uc002kvk.2	-	6	4121	c.3874C>T	c.(3874-3876)Cca>Tca	p.P1292S	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.P1292S|ZNF521_uc002kvl.2_Missense_Mutation_p.P1072S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1292					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTTCTGTGGACATTGTGTA	0.398000			T	PAX5	ALL									41			26		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:169648776G>A	uc003qwt.3	-	3	593	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	115	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I115I(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTTGGAGACGATCTCGAACT	0.657000														38			28		0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572540	112572540	+	Splice_Site	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:112572540A>T	uc001ttp.3	+	3	134	c.48_splice	c.e3-2	p.C16_splice	TRAFD1_uc001tto.3_Splice_Site_p.C16_splice|TRAFD1_uc009zwb.2_Splice_Site_p.C16_splice|TRAFD1_uc010syj.1_Splice_Site	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	16					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTATTTCCGTAGCAAAAAAGA	0.393000														57			19		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50125781	50125781	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:50125781C>T	uc003jon.4	+	22	2401	c.2219C>T	c.(2218-2220)tCa>tTa	p.S740L	PARP8_uc011cpz.2_Missense_Mutation_p.S632L|PARP8_uc003joo.3_Missense_Mutation_p.S740L|PARP8_uc003jop.3_Missense_Mutation_p.S698L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	740	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCAAGCATATCATTTGGTTAC	0.353000														66			13		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524362	55524362	+	Silent	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:55524362G>T	uc010spe.2	+	0	810	c.810G>T	c.(808-810)ctG>ctT	p.L270L		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTCTCACCTGGGAGTTGTGA	0.423000														110			13		0.000151284	0.000152167	1	1	0
FBLN7	129804	broad.mit.edu	37	2	112940451	112940451	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:112940451C>T	uc002tho.1	+	5	1025	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	FBLN7_uc010fki.1_Missense_Mutation_p.R206C|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	252	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.R252S(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGCTCTTACCGTTGCACCTG	0.637000														57			23		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38812783C>T	uc003ciq.3	-	3	586	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	196					sensory perception	voltage-gated sodium channel complex		p.V196I(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458000														98			18		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186880444	186880444	+	Silent	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:186880444A>C	uc001gsc.3	+	6	686	c.481A>C	c.(481-483)Aga>Cga	p.R161R	PLA2G4A_uc010pos.2_Intron	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	161	PLA2c.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CAGACAACAGAGAAAAGAACA	0.423000														41			30		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203552	69203552	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:69203552G>A	uc003hdx.3	-	2	550	c.197C>T	c.(196-198)tCt>tTt	p.S66F	YTHDC1_uc003hdy.3_Missense_Mutation_p.S66F	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	66										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CAGTTGTCTAGAATGGACAGA	0.328000														54			16		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121209082	121209082	+	Silent	SNP	C	T	T	rs149492812		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:121209082C>T	uc003yox.3	+	5	754	c.489C>T	c.(487-489)gtC>gtT	p.V163V	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	163	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAATCCTGGTCGATGGTTCAT	0.438000														98			99		0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458059	51458059	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:51458059G>A	uc021qxx.1	-	4	1614	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CSRNP2_uc001rxu.2_Missense_Mutation_p.P368S	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	368					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGCTCTTCGGGGACAGCCAGA	0.612000														68			25		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6014093	6014093	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:6014093A>T	uc010cli.3	+	6	1391	c.1012A>T	c.(1012-1014)Act>Tct	p.T338S	WSCD1_uc002gcn.3_Missense_Mutation_p.T338S|WSCD1_uc002gco.3_Missense_Mutation_p.T338S|WSCD1_uc010clj.3_Missense_Mutation_p.T29S	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	338	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTTTCAGACACTCGTTGTAC	0.488000														250			93		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230825826	230825826	+	Missense_Mutation	SNP	G	C	C	rs142462148		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:230825826G>C	uc001htw.3	+	15	2012	c.1861G>C	c.(1861-1863)Gga>Cga	p.G621R	COG2_uc001htx.3_Missense_Mutation_p.G620R|COG2_uc010pwc.2_Missense_Mutation_p.G494R	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	621					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTTCAGAGCGGACACAAGGA	0.453000														203			31		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76717201	76717201	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:76717201C>T	uc003pik.1	-	8	1013	c.883G>A	c.(883-885)Gat>Aat	p.D295N		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	295	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATTACCCATCTTTTTCTTTC	0.264000														12			11		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062183	242062183	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:242062183G>A	uc002wao.2	-	11	3169	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	PASK_uc010zol.2_Silent_p.F826F|PASK_uc010zom.2_Silent_p.F977F|PASK_uc010fzl.2_Silent_p.F1012F|PASK_uc010zon.2_Silent_p.F793F|PASK_uc021vzf.1_Silent_p.F1012F|PASK_uc002wap.3_Silent_p.F555F|PASK_uc002waq.3_Silent_p.F1012F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1012	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGTCCACACGAAGCCGAAGG	0.612000														93			36		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244235	100244235	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:100244235T>C	uc003uvy.3	-	11	1159	c.1052A>G	c.(1051-1053)aAc>aGc	p.N351S	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	351					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGCAGTGTGTTCCCGCCGGT	0.652000														48			8		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650496	51650496	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:51650496G>A	uc002pvv.1	+	5	1212	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	SIGLEC7_uc002pvw.1_Silent_p.K288K|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	381					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTGCAGGAAGAAATCGGCAA	0.572000														45			9		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67674919	67674919	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:67674919G>A	uc001xja.2	+	6	1203	c.913_splice	c.e6-1	p.E305_splice	FAM71D_uc010aqn.2_Splice_Site	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	305										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ATTTTTAAAGGAAAAATTGAA	0.358000														38			4		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004054	126004055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:126004054_126004055GG>AA	uc001uhe.1	+	3	1169_1170	c.1161_1162GG>AA	c.(1159-1164)ggggcc>ggAAcc	p.A388T	TMEM132B_uc021rgl.1_Missense_Mutation_p.A278T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	388						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGGCTGGGGCCCAGCAGAT	0.490000														70			19		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43932896	43932896	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:43932896G>A	uc002xnn.2	-	2	802	c.615C>T	c.(613-615)ttC>ttT	p.F205F	MATN4_uc002xnp.2_Silent_p.F205F|MATN4_uc002xno.2_Silent_p.F205F|MATN4_uc010zwr.1_Silent_p.F153F|MATN4_uc002xnr.1_Silent_p.F205F|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	205	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACTGCAGGCCGAACTCCTGGA	0.617000														61			30		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367406	99367406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:99367406G>A	uc003urv.2	-	5	613	c.506C>T	c.(505-507)cCt>cTt	p.P169L	CYP3A4_uc003urw.2_Missense_Mutation_p.P169L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P128L	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	169					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAAGGTGACAGGCTTGCCTGT	0.522000														130			12		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591825	46591825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:46591825C>T	uc009zkj.1	-	14	1826	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E381K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	381					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTAGCCAGTTCAAATAAAGAT	0.368000														23			6		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383326	61383326	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:61383326G>A	uc002ljk.4	+	5	583	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Missense_Mutation_p.E25K|SERPINB11_uc002ljj.4_Missense_Mutation_p.E25K|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	139					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGTGGATTTTGAACAGTCTAC	0.343000														12			6		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019901	23019901	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:23019901C>T	uc004daj.3	+	0	1824	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	576	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S576L(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAGAGAGATTCGAAAATGGCC	0.413000														113			26		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424379	85424379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:85424379G>A	uc001dkm.3	-	2	485	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	82						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAACCAAAACGAACAAGCTAA	0.333000														29			4		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77105512	77105512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:77105512C>T	uc002lmx.3	+	21	2571	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	ATP9B_uc002lmw.1_Nonsense_Mutation_p.Q853*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.Q547*|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'UTR|ATP9B_uc010drb.3_5'Flank	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	853					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCACCCACCCAGAAGGCCCG	0.602000														84			24		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266848	6266848	+	Nonsense_Mutation	SNP	G	A	A	rs121913065		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:6266848G>A	uc003mwv.3	-	3	637	c.514C>T	c.(514-516)Cga>Tga	p.R172*	F13A1_uc011dib.2_Nonsense_Mutation_p.R109*	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGACTGGTTCGAAGTACGCCA	0.458000														108			64		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9263815	9263815	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:9263815C>T	uc002knv.3	+	9	5956	c.5692C>T	c.(5692-5694)Cca>Tca	p.P1898S	ANKRD12_uc002knw.3_Missense_Mutation_p.P1875S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1875S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1898						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACTGTCAGATCCACTTAAAGA	0.289000														67			10		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878145	5878145	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:5878145G>A	uc010qzr.2	-	0	788	c.788C>T	c.(787-789)tCa>tTa	p.S263L	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCAAGAATGAAAAAAATGC	0.428000														96			19		0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38990881	38990881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38990881C>T	uc021txc.1	+	2	412	c.113C>T	c.(112-114)tCa>tTa	p.S38L	TMEM99_uc002hvj.1_Missense_Mutation_p.S38L|TMEM99_uc021txd.1_Missense_Mutation_p.S38L|TMEM99_uc021txe.1_Missense_Mutation_p.S38L	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	38						integral to membrane		p.S38L(2)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GTTCCTCATTCAGCTGGTCAC	0.522000														100			33		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6477418	6477418	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:6477418C>T	uc002mfe.3	-	6	510	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.G96R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	140	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCTGGGGCCCAGACAGGGAC	0.622000														28			9		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292766	62292767	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:62292766_62292767CC>TT	uc021wge.1	+	1	388_389	c.218_219CC>TT	c.(217-219)gcc>gTT	p.A73V	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.A73V|RTEL1_uc011abd.2_Missense_Mutation_p.A73V|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.A73V|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	73	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGCAAGATTGCCGAGAGGGCGC	0.639000														52			24		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602715	13602715	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:13602715T>A	uc003gmz.1	-	9	5926	c.5809A>T	c.(5809-5811)Aca>Tca	p.T1937S	BOD1L1_uc010idr.1_Missense_Mutation_p.T1274S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1937							DNA binding										CCTTTCTCTGTGCCACTCATG	0.468000														57			18		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228656	25228656	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:25228656C>T	uc002doc.3	+	1	232	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	50					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TCTTCATCTTCATCGGGTGCC	0.642000														193			61		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647693	179647693	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179647693G>A	uc021vsy.1	-	17	3165	c.2940C>T	c.(2938-2940)gaC>gaT	p.D980D	TTN_uc021vsz.1_Silent_p.D934D|TTN_uc021vta.1_Silent_p.D934D|TTN_uc021vtb.1_Silent_p.D934D|TTN_uc002unb.2_Silent_p.D980D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	980	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S979N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATTTGGTAGTCTTCCCTGT	0.468000														78			23		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000														463			79		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461236	5461236	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:5461236G>A	uc003jdm.4	+	12	2011	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	597										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAGGAAAAAGAAGATACTCA	0.398000														93			49		0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185229	56185229	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:56185229G>A	uc010rji.2	-	0	480	c.480C>T	c.(478-480)acC>acT	p.T160T	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAGTGATAACGGTGTGGAAGA	0.453000														65			32		0	0	1	0	0
CD68	968	broad.mit.edu	37	17	7483543	7483543	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7483543G>A	uc002ghv.3	+	1	656	c.465G>A	c.(463-465)gaG>gaA	p.E155E	CD68_uc002ghu.3_Silent_p.E128E	NM_001251	NP_001242	P34810	CD68_HUMAN	Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA.	155						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CCTCCAAGGAGACCATTGGAG	0.572000														21			8		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926236	88926236	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:88926236G>A	uc001tav.3	-	2	369	c.174C>T	c.(172-174)gtC>gtT	p.V58V	KITLG_uc001taw.3_Silent_p.V58V|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	58					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCATCCCGGGGACATATTTGA	0.323000									Testicular Cancer, Familial Clustering of					64			21		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755538	38755538	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38755538C>T	uc003ciq.3	-	20	3715	c.3715G>A	c.(3715-3717)Gaa>Aaa	p.E1239K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1239					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)	TCAGAATATTCCAGAATCTTC	0.522000														95			24		0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37139091	37139092	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:37139091_37139092CC>GT	uc003onk.3	+	3	861_862	c.431_432CC>GT	c.(430-432)gcc>gGT	p.A144G	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	235	Protein kinase.		Y -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GAGGAGCTGGCCCGCAGCTTCT	0.614000			T	BCL6	NHL									97			53		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307048	120307048	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:120307048G>A	uc001eid.3	-	1	394	c.306C>T	c.(304-306)atC>atT	p.I102I	HMGCS2_uc010oxj.2_Silent_p.I102I|HMGCS2_uc021osx.1_Silent_p.I10I	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ACAGGGAGTTGATGTCCTCTT	0.547000														98			63		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72641531	72641531	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:72641531G>A	uc002aun.4	-	7	1082	c.875C>T	c.(874-876)cCc>cTc	p.P292L	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P303L|HEXA_uc010bix.3_Missense_Mutation_p.P292L|HEXA_uc010biy.2_Missense_Mutation_p.P155L|HEXA_uc010uko.1_Missense_Mutation_p.P118L	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	292					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATTGAGACTGGGATTCACTGG	0.453000														42			24		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730676	37730676	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:37730676C>T	uc003xkm.2	-	3	1700	c.1644G>A	c.(1642-1644)gcG>gcA	p.A548A	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	548					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTGGGTTGCGCCTCTGGAG	0.502000														54			10		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496497	54496497	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:54496497C>T	uc004dtg.3	-	3	1787	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	FGD1_uc011moi.1_Silent_p.K109K	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	351					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTTCTCTGtccttctcttcct	0.602000														18			23		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120911478	120911478	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:120911478C>T	uc003vjq.4	+	21	3309	c.2862C>T	c.(2860-2862)ttC>ttT	p.F954F		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	954						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GATGTCATTTCCATGAGGTAT	0.338000														117			10		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692398	135692398	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:135692398C>T	uc003lbn.2	-	1	900	c.678G>A	c.(676-678)gcG>gcA	p.A226A	TRPC7_uc010jef.2_Silent_p.A217A|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.A226A|TRPC7_uc010jei.2_Silent_p.A226A	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	226					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCAGCACTCGCCAGTCCTT	0.557000														15			11		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7351964	7351964	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7351964G>A	uc002ghb.3	+	6	718	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CHRNB1_uc010vty.2_Missense_Mutation_p.G154E|CHRNB1_uc010vtz.1_Missense_Mutation_p.G60E	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	226					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GATCCTAGGGGAGGGAGGGAA	0.567000														41			20		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112648052	112648052	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:112648052G>A	uc021reb.1	-	49	7628	c.7232C>T	c.(7231-7233)aCc>aTc	p.T2411I	C12orf51_uc001ttr.1_Missense_Mutation_p.T298I	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TCGGGTTTTGGTGTTCTGGAA	0.512000														104			36		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166559	21166559	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:21166559G>A	uc003zom.2	-	0	101	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	18					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAACAGATGGATTTGTAGCT	0.502000														65			15		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115319105	115319105	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:115319105C>T	uc003kro.3	+	1	981	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	AQPEP_uc003krp.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	273					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTATGTGGCCCTTTCCAACAT	0.368000														24			20		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:57143616G>A	uc003dil.3	-	4	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_uc003dik.3_Missense_Mutation_p.P143S|IL17RD_uc010hna.3_Missense_Mutation_p.P23S|IL17RD_uc011bex.1_Missense_Mutation_p.P23S	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000														61			21		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212607	50212607	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:50212607C>T	uc001zxu.3	-	18	1901	c.1759_splice	c.e18-1	p.E587_splice	ATP8B4_uc010ber.3_Splice_Site_p.E460_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E397_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	587					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTGCAAATTCCTGCCAGAGA	0.403000														27			11		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175577921	175577921	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:175577921C>T	uc003ity.1	-	8	1592	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	GLRA3_uc003itz.1_Intron	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	363					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AAAACTTCTCCAGTGCAAAAG	0.353000														44			7		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425410	74425410	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:74425410C>T	uc010vmt.1	+	5	582	c.581C>T	c.(580-582)tCt>tTt	p.S194F				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	255										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						CAACAACATTCTATAACTGAT	0.502000														130			20		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265424	140265424	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:140265424C>T	uc003etn.3	+	9	1765	c.1575C>T	c.(1573-1575)cgC>cgT	p.R525R	CLSTN2_uc003etm.2_Silent_p.R525R	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	525					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCACCATCCGCCCTGGCAAAA	0.502000										HNSCC(16;0.037)				35			17		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38813728	38813728	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38813728C>T	uc002hvc.2	-	4	600	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	KRT222_uc002hvb.2_Missense_Mutation_p.E139K|KRT222_uc010cxc.3_3'UTR	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	179						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AAAGATATTTCATTTATAATG	0.269000														15			4		0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:67591097A>G	uc003jva.3	+	12	2270	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_uc003jvc.3_Missense_Mutation_p.N264D|PIK3R1_uc003jvd.3_Missense_Mutation_p.N294D|PIK3R1_uc003jve.3_Missense_Mutation_p.N243D|PIK3R1_uc021xzn.1_Missense_Mutation_p.N201D|PIK3R1_uc011crb.2_Missense_Mutation_p.N234D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	564					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				84			26		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43496189	43496189	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:43496189T>C	uc002zag.1	+	1	152	c.152T>C	c.(151-153)gTg>gCg	p.V51A	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51A|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	51	EMI.					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						GTGGAGGCCGTGCAGACGTCC	0.592000														116			53		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175241	193175241	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:193175241G>T	uc003ftd.3	-	14	1796	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ATP13A4_uc003fte.1_Missense_Mutation_p.S563Y|ATP13A4_uc011bsr.1_Missense_Mutation_p.S34Y|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	563					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATCGTCCCCAGAAAAAGCCAT	0.473000														71			40		1.49673e-21	1.54698e-21	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118223062	118223062	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:118223062C>T	uc004era.4	-	10	2131	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	711										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTTGTAAATCAAAGCTGAAA	0.433000														49			13		0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207534	135207534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:135207534C>T	uc003laz.1	+	4	978	c.806C>T	c.(805-807)tCt>tTt	p.S269F	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCCAACAATTCTTTGTTAGGT	0.562000														12			14		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130130907	130130907	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:130130907G>A	uc001qga.3	-	1	1256	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ZBTB44_uc001qgb.4_Missense_Mutation_p.R288W|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.R288W|ZBTB44_uc001qfz.3_Missense_Mutation_p.R288W	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACTTTGACCCGGACATCTTCT	0.478000														91			46		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461997	5461997	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:5461997G>A	uc002gci.3	-	3	2574	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	NLRP1_uc002gcg.1_Silent_p.F673F|NLRP1_uc002gch.4_Silent_p.F673F|NLRP1_uc002gck.3_Silent_p.F673F|NLRP1_uc002gcj.3_Silent_p.F673F|NLRP1_uc002gcl.3_Silent_p.F673F|NLRP1_uc010clh.3_Silent_p.F673F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	673					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCCCAATAGGAAACGTGTGG	0.498000														137			38		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51138511	51138512	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:51138511_51138512GG>AA	uc001rwv.3	+	37	4776_4777	c.4620_4621GG>AA	c.(4618-4623)gtggac>gtAAac	p.D1541N	DIP2B_uc009zlt.3_Missense_Mutation_p.D971N	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1541						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGTTGTGGTGGACCCAGGTGT	0.545000														53			10		0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663456	86663456	+	Silent	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:86663456A>G	uc001pce.3	-	1	655	c.342T>C	c.(340-342)atT>atC	p.I114I	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	114	FZ.		I -> T (in EVR1).		Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCATGGGCCAATGGGGATGT	0.448000														65			37		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202572213	202572213	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:202572213C>T	uc001gye.3	-	3	572	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	SYT2_uc010pqb.2_Missense_Mutation_p.G127R|SYT2_uc009xaf.3_5'UTR	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	127					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCACCTTCCCCCTCAGTCAGG	0.552000														120			34		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39931233	39931233	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:39931233G>A	uc002rrt.3	+	1	493	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Missense_Mutation_p.R138Q	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	138						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				ATTGCGCAGCGATGCACGGCC	0.448000														29			23		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780994	39780994	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:39780994C>T	uc003xnm.3	+	6	658	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	182					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TTAGGTAATTCCTACTGTATT	0.378000														18			3		0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249517	119249517	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:119249517C>T	uc004esk.1	-	0	331	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	86					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCCGGCTCCTCCGGCGGGGGC	0.692000														57			34		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7441758	7441758	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:7441758C>T	uc001mfe.3	+	5	1596	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	453	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGAGATCATCGGCGTGTGTC	0.443000														69			15		0	0	1	0	0
COX6B2	125965	broad.mit.edu	37	19	55865856	55865856	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55865856C>T	uc002qkn.3	-	1	498	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	COX6B2_uc002qkm.3_Non-coding_Transcript|COX6B2_uc002qko.3_Non-coding_Transcript|COX6B2_uc002qkp.1_Missense_Mutation_p.G12R	NM_144613	NP_653214	Q6YFQ2	CX6B2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIb polypeptide 2 (testis) (COX6B2), mRNA.	12						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GACCATTTCCCCTTGGGGGGC	0.657000														147			58		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49701251	49701251	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:49701251G>A	uc003cxe.4	+	7	11654	c.11540G>A	c.(11539-11541)gGg>gAg	p.G3847E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3847					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCTCTAAAGGGACAGCCAAA	0.582000														63			31		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68942864	68942864	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:68942864G>A	uc003xxv.1	+	5	703	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	PREX2_uc003xxu.1_Missense_Mutation_p.E226K|PREX2_uc011lez.1_Missense_Mutation_p.E161K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	226					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTTTTAGAGGAATGGCAGTC	0.458000														123			14		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990214	56990214	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:56990214C>T	uc001cyj.2	-	2	878	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	104					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGTAGAATTCCCCCGTGATG	0.473000														37			14		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025445	16025445	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:16025445G>A	uc002nbu.2	-	10	1317	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	CYP4F11_uc010eab.1_Intron|CYP4F11_uc002nbt.2_Silent_p.I427I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	427					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGTTGTAATGGATCCCGATAA	0.567000														78			25		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110865019	110865019	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:110865019G>A	uc003hzy.4	+	3	983	c.531G>A	c.(529-531)gaG>gaA	p.E177E	EGF_uc011cfu.2_Silent_p.E177E|EGF_uc011cfv.2_Silent_p.E177E	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	177					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGTCTTCAGAGGTGGCTGGAA	0.433000														50			13		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937851	12937851	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:12937851A>G	uc004cvd.3	+	2	916	c.746A>G	c.(745-747)aAc>aGc	p.N249S	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.N231S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	231					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.N249K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTCTGAGCAACACCCAGATC	0.413000														163			8		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30897927	30897927	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:30897927G>A	uc002wxq.3	+	1	527	c.347G>A	c.(346-348)aGa>aAa	p.R116K	KIF3B_uc010ztv.2_Missense_Mutation_p.R116K|KIF3B_uc010ztw.2_Missense_Mutation_p.R116K	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	116	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGAAAAAAGAGGAGTCATT	0.448000														45			27		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875638	46875638	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:46875638C>T	uc002zhi.3	+	0	215	c.194C>T	c.(193-195)aCc>aTc	p.T65I	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	65					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACACACGTGACCCCCCGGAAT	0.637000														129			53		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494344	7494344	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:7494344C>T	uc003bqm.2	+	5	1499	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.Q409*|GRM7_uc003bql.2_Nonsense_Mutation_p.Q409*|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	409					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGTAAAGTCCAGTTCGTGAT	0.483000														38			24		0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564933	39564933	+	RNA	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:39564933C>A	uc021txj.1	+	1		c.354C>A								Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA.																		TCAGGGACTCCAGCTGGGCCT	0.582000														22			19		2.39556e-15	2.45538e-15	1	1	0
TRDMT1	1787	broad.mit.edu	37	10	17201180	17201180	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:17201180G>A	uc001iop.3	-	6	945	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	TRDMT1_uc001ios.3_Nonsense_Mutation_p.Q99*|TRDMT1_uc009xjt.3_Nonsense_Mutation_p.Q89*|TRDMT1_uc010qcc.1_Nonsense_Mutation_p.Q99*|TRDMT1_uc010qcd.2_Intron|TRDMT1_uc021pnn.1_Non-coding_Transcript|TRDMT1_uc009xjs.1_Nonsense_Mutation_p.Q87*|TRDMT1_uc021pno.1_Non-coding_Transcript|TRDMT1_uc009xju.1_Non-coding_Transcript	NM_004412	NP_004403	O14717	TRDMT_HUMAN	Homo sapiens tRNA aspartic acid methyltransferase 1 (TRDMT1), mRNA.	170					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GGCTCTGACTGAAGCTTTGCA	0.328000														80			24		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059676	248059676	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248059676G>A	uc010pzb.2	+	0	788	c.788G>A	c.(787-789)gGa>gAa	p.G263E	OR2W3_uc001idp.1_Missense_Mutation_p.G263E	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGCAGCCAGGAGCCAGTTCT	0.527000														154			20		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678173	48678173	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:48678173C>T	uc002irk.1	+	17	4149	c.3777C>T	c.(3775-3777)ttC>ttT	p.F1259F	CACNA1G_uc002iri.1_Silent_p.F1259F|CACNA1G_uc002irj.1_Silent_p.F1236F|CACNA1G_uc002irl.1_Silent_p.F1236F|CACNA1G_uc002irm.1_Silent_p.F1236F|CACNA1G_uc002irn.1_Silent_p.F1236F|CACNA1G_uc002iro.1_Silent_p.F1236F|CACNA1G_uc002irp.1_Silent_p.F1259F|CACNA1G_uc002irq.1_Silent_p.F1236F|CACNA1G_uc002irr.1_Silent_p.F1259F|CACNA1G_uc002irs.1_Silent_p.F1259F|CACNA1G_uc002irt.1_Silent_p.F1259F|CACNA1G_uc002iru.1_Silent_p.F1236F|CACNA1G_uc002irv.1_Silent_p.F1259F|CACNA1G_uc002irw.1_Silent_p.F1236F|CACNA1G_uc002irx.1_Silent_p.F1172F|CACNA1G_uc002iry.1_Silent_p.F1172F|CACNA1G_uc002isg.1_Silent_p.F1172F|CACNA1G_uc002ish.1_Silent_p.F1172F|CACNA1G_uc002isi.1_Silent_p.F1149F|CACNA1G_uc002irz.1_Silent_p.F1172F|CACNA1G_uc002isa.1_Silent_p.F1172F|CACNA1G_uc002isd.1_Silent_p.F1172F|CACNA1G_uc002isb.1_Silent_p.F1172F|CACNA1G_uc002isc.1_Silent_p.F1172F|CACNA1G_uc002ise.1_Silent_p.F1172F|CACNA1G_uc002isf.1_Silent_p.F1172F|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1259					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTACATCTTCCCTCCTCAGT	0.592000														36			28		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222028	118222028	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:118222028G>A	uc004era.4	-	10	3165	c.3165C>T	c.(3163-3165)tcC>tcT	p.S1055S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1055										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCGAGGGCTGGGAAAGGCATC	0.532000														176			35		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801948	185801948	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:185801948G>A	uc002uph.3	+	3	2419	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	609						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCATCATATGGAGAAAACCAA	0.328000														80			23		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055985	29055985	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:29055985C>T	uc002kws.3	+	15	2871	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	DSG3_uc002kwt.3_Missense_Mutation_p.S203F	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	921					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S921Y(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGCTGTTTCCATCCCTGAC	0.502000														39			17		0	0	1	0	0
GINS1	9837	broad.mit.edu	37	20	25405940	25405940	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:25405940C>T	uc002wuv.1	+	4	558	c.424C>T	c.(424-426)Cca>Tca	p.P142S	GINS1_uc010zte.1_Non-coding_Transcript	NM_021067	NP_066545	Q14691	PSF1_HUMAN	Homo sapiens GINS complex subunit 1 (Psf1 homolog) (GINS1), mRNA.	142					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						GGATATGAAACCACCAAAAAG	0.318000														51			24		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106629	168106629	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168106629C>T	uc002udx.3	+	8	8816	c.8727C>T	c.(8725-8727)gtC>gtT	p.V2909V	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.V2734V|XIRP2_uc010fpq.3_Silent_p.V2687V|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2734					actin cytoskeleton organization	cell junction	actin binding	p.Q2908*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAACAAGTCTTCTCTAATA	0.388000														62			37		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211328	78211328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:78211328C>T	uc010bky.2	-	10	1203	c.439G>A	c.(439-441)Gag>Aag	p.E147K						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TGCAGCCTCTCACCCTGCTCC	0.592000														241			109		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25028503	25028503	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:25028503G>A	uc003grf.2	-	2	427	c.328C>T	c.(328-330)Cat>Tat	p.H110Y		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	110						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TATTCAAGATGAAAAAGTCCA	0.388000														60			20		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73470671	73470671	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:73470671G>C	uc002avm.4	+	6	1386	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	NEO1_uc010ukx.2_Missense_Mutation_p.L398F|NEO1_uc010uky.2_Missense_Mutation_p.L398F|NEO1_uc002avn.4_Missense_Mutation_p.L398F|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	398	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTCAAGTTTTGGGTCTGGTGA	0.328000														34			14		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081330	54081330	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:54081330G>A	uc021vhn.1	-	0	564	c.564C>T	c.(562-564)ctC>ctT	p.L188L	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.L188L	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	188						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGGAAGACAGAGGTGGGACT	0.532000														49			17		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133246	64133246	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:64133246G>A	uc003dmf.3	-	6	1506	c.920C>T	c.(919-921)tCa>tTa	p.S307L		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	307	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGGCCCGTGAGCAGAATAT	0.592000														110			33		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476556	120476556	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:120476556C>T	uc004bjz.3	+	2	2441	c.2150C>T	c.(2149-2151)gCc>gTc	p.A717V	TLR4_uc004bkb.3_Missense_Mutation_p.A517V|TLR4_uc004bka.3_Missense_Mutation_p.A677V	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	717	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A717D(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCCGGTGTGGCCATTGCTGCC	0.473000														56			30		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681407	44681407	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:44681407C>T	uc002oys.3	+	5	2172	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V	ZNF226_uc002oyp.3_Silent_p.V664V|ZNF226_uc002oyq.3_Silent_p.V547V|ZNF226_uc002oyr.3_Silent_p.V547V|ZNF226_uc002oyt.3_Silent_p.V664V	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATCAAAAAGTCCACACTGGAG	0.473000														111			8		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390355	197390355	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:197390355G>A	uc001gtz.3	+	5	1606	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	CRB1_uc010poz.2_Missense_Mutation_p.G397E|CRB1_uc009wza.3_Missense_Mutation_p.G354E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G466E|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G115E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	466	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGCCAGCATGGATTCAGCTGC	0.502000														67			81		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374458	240374458	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:240374458G>A	uc010pye.2	+	6	4225	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	FMN2_uc010pyd.2_Missense_Mutation_p.E1330K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1330	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAATTTGAGGAATTATTTTC	0.328000														108			22		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73749091	73749091	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:73749091C>T	uc004ebt.2	+	4	1602	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	405						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	ATGATGATTCCCCTGTGCCGG	0.562000														51			6		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058176	41058176	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:41058176G>A	uc003jmj.4	-	6	1235	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.H249Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	249							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGAGTGACATGGAAATCAATC	0.522000														49			9		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63223508	63223509	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:63223508_63223509CC>TT	uc002jfe.3	+	18	2211_2212	c.2008_2009CC>TT	c.(2008-2010)ccc>TTc	p.P670F	RGS9_uc002jfd.3_Missense_Mutation_p.P667F|RGS9_uc002jfg.3_Missense_Mutation_p.P441F	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	670					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGTCATCTGCCCCTGGGAGAGC	0.604000														17			9		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735360	109735360	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:109735360C>T	uc021orb.1	+	13	2032	c.1811C>T	c.(1810-1812)tCt>tTt	p.S604F	KIAA1324_uc009wex.2_Missense_Mutation_p.S554F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S502F|KIAA1324_uc009wey.3_Missense_Mutation_p.S517F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S254F	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	604					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCCTGCACCTCTTGTCCTGCT	0.527000														271			40		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251638	92251638	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:92251638C>T	uc001xzu.4	-	10	1421	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	TC2N_uc001xzt.4_Silent_p.L410L|TC2N_uc010auc.3_Silent_p.L346L|TC2N_uc001xzv.4_Silent_p.L410L	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	410	C2.					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)		TGGAGGCCTTCAGTAAGCGTG	0.343000														220			71		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:178585775C>T	uc003mjw.3	-	5	1183	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607000														100			27		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244640	100244640	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:100244640T>C	uc003uvy.3	-	9	997	c.890A>G	c.(889-891)gAg>gGg	p.E297G	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	297					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGAGTCGCTCGGCGCCGTA	0.612000														64			13		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150747973	150747973	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:150747973G>A	uc003wio.2	+	3	1310	c.942G>A	c.(940-942)ggG>ggA	p.G314G	ASIC3_uc003win.2_Silent_p.G314G|ASIC3_uc003wip.2_Silent_p.G314G|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	314					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCCTTATGGGGTGTCGCCTGG	0.632000														37			20		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245554	1245554	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:1245554C>T	uc002cks.3	+	3	782	c.534C>T	c.(532-534)atC>atT	p.I178I	CACNA1H_uc002ckt.3_Silent_p.I178I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	178					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATTTCTTCATCGTCGTGGCGG	0.607000														4			3		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:115998159G>A	uc003ibu.3	-	1	713	c.34C>T	c.(34-36)Cga>Tga	p.R12*	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	12			R -> Q (in dbSNP:rs35181627).			Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCAATGTTCGAAAACTTCTC	0.343000														10			16		0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29523699	29523699	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:29523699C>T	uc003nmo.3	-	1	680	c.456G>A	c.(454-456)aaG>aaA	p.K152K	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	152	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTAAGTTGCCCTTTCTGATGC	0.463000														80			27		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43515648	43515648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:43515648G>A	uc004dfy.3	+	0	240	c.59G>A	c.(58-60)gGa>gAa	p.G20E	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	20					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	p.G20E(2)		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)	GTCGTGATCGGAGGTGGCATT	0.602000														43			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280647	152280647	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152280647G>A	uc001ezu.1	-	2	6751	c.6715C>T	c.(6715-6717)Cgg>Tgg	p.R2239W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2239	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCCGGGGCCTGCTT	0.577000									Ichthyosis					596			41		0	0	1	0	0
C3orf19	51244	broad.mit.edu	37	3	14712409	14712409	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:14712409C>T	uc003byw.3	+	10	1203	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	C3orf19_uc010hej.3_Missense_Mutation_p.S200F	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.	371										endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						CCAGAATTTTCCTTTGGATAC	0.368000														49			7		0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39611933	39611933	+	Silent	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:39611933A>T	uc003thc.4	+	2	324	c.309A>T	c.(307-309)atA>atT	p.I103I		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	103																	TCAATAAAATAAACAATCTTC	0.368000														51			9		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261343	16261343	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:16261343G>A	uc001axk.1	+	10	8812	c.8608G>A	c.(8608-8610)Ggc>Agc	p.G2870S	SPEN_uc010obp.1_Missense_Mutation_p.G2829S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2870	Interaction with RBPSUH (By similarity).				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCATCCAAAGGCCCTCAAGC	0.542000														41			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:55537550C>T	uc003xsd.1	+	3	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	370					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.F369I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAGTTTTCCAGGAAGAAC	0.398000														47			23		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110389	98110389	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:98110389G>A	uc011bgw.2	+	0	880	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGAAATAAGGAAGTAATAAA	0.264000														45			19		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26346369	26346369	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:26346369C>T	uc003abz.1	+	36	6035	c.5785C>T	c.(5785-5787)Ctg>Ttg	p.L1929L	MYO18B_uc003aca.1_Silent_p.L1810L|MYO18B_uc010guy.1_Silent_p.L1811L|MYO18B_uc010guz.1_Silent_p.L1809L|MYO18B_uc011aka.1_Silent_p.L1083L|MYO18B_uc011akb.1_Silent_p.L1442L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1929	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAACTGCAGCTGCAGCTGGA	0.458000														7			5		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455411	19455411	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:19455411G>A	uc002dgc.4	+	3	1546	c.797G>A	c.(796-798)aGc>aAc	p.S266N	TMC5_uc010vaq.2_Missense_Mutation_p.S266N|TMC5_uc002dgb.4_Missense_Mutation_p.S266N|TMC5_uc010var.2_Missense_Mutation_p.S266N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	266						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGTGCTCAGCAGAACATCT	0.453000														70			23		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73562535	73562536	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:73562535_73562536CC>TT	uc002avm.4	+	16	2871_2872	c.2679_2680CC>TT	c.(2677-2682)gtccga>gtTTga	p.R894*	NEO1_uc010ukx.2_Nonsense_Mutation_p.R894*|NEO1_uc010uky.2_Nonsense_Mutation_p.R894*|NEO1_uc002avn.4_Nonsense_Mutation_p.R898*|NEO1_uc010ukz.2_Nonsense_Mutation_p.R318*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	894	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACTACACCGTCCGATGGAAAAC	0.450000														74			27		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254841	51254841	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:51254841A>C	uc021vhh.1	-	0	1492	c.571T>G	c.(571-573)Tcc>Gcc	p.S191A	NRXN1_uc021vhg.1_Missense_Mutation_p.S191A|NRXN1_uc021vhi.1_Missense_Mutation_p.S191A|NRXN1_uc021vhj.1_Missense_Mutation_p.S191A|NRXN1_uc021vhk.1_Missense_Mutation_p.S191A	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	191	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCTGCGAGGAGTTGACCCTC	0.716000														14			3		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882494	167882494	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:167882494C>T	uc003lzu.3	+	18	2885	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	WWC1_uc003lzv.3_Missense_Mutation_p.S931F|WWC1_uc011den.2_Missense_Mutation_p.S931F|WWC1_uc003lzw.3_Missense_Mutation_p.S730F|WWC1_uc010jjf.1_Missense_Mutation_p.S203F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	931	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.F930S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AAGACCTTCTCCCCAGGACCC	0.642000														151			25		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112298	248112298	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248112298C>T	uc001idt.1	+	0	139	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGATTCTTCTCATCTTCTT	0.413000														583			92		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765571	113765571	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:113765571G>A	uc010yxr.2	+	3	427	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	143					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTTACCCAAGAACTGGGGAA	0.498000														58			27		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48421035	48421035	+	Missense_Mutation	SNP	G	A	A	rs137962592		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:48421035G>A	uc003csr.3	+	6	947	c.761G>A	c.(760-762)cGt>cAt	p.R254H	FBXW12_uc010hjv.3_Missense_Mutation_p.R235H|FBXW12_uc003css.3_Missense_Mutation_p.R184H|FBXW12_uc010hjw.3_Missense_Mutation_p.R153H|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	254										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACATACAGTCGTACCTTGCCA	0.418000														173			15		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60754833	60754833	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:60754833C>T	uc002jad.3	+	11	2440	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	680	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CACCAAACTCCGGTATTGCTA	0.662000														23			3		0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35013211	35013211	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:35013211G>A	uc003tem.4	-	7	755	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	204						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CACATTACACGGGTACACTGA	0.303000														32			5		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602855	37602855	+	Silent	SNP	C	T	T	rs141312847		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:37602855C>T	uc002yvg.3	+	13	1852	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	DOPEY2_uc011aeb.2_Silent_p.I591I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	591					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAGTGGGATCGGGCTCAGTG	0.522000														94			56		0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3301182	3301182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:3301182G>A	uc002fvj.1	-	0	523	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AAAAAGTGGGGGATCACATTG	0.493000														27			13		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459984	107459984	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:107459984G>A	uc002tdq.3	-	1	569	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ST6GAL2_uc002tdr.3_Silent_p.F150F|ST6GAL2_uc002tds.3_Silent_p.F150F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	150					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGGGGAAGGGAATCCCAATG	0.612000														155			85		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438571	6438571	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:6438571G>A	uc001qnu.3	-	9	1578	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	TNFRSF1A_uc001qnt.3_Silent_p.L317L|TNFRSF1A_uc010sey.2_Silent_p.L193L|TNFRSF1A_uc010sez.2_Silent_p.L317L|TNFRSF1A_uc009zek.3_Silent_p.L382L	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	425	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCATGTCGCGGAGCACGCGTC	0.736000														3			3		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894589	166894589	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:166894589C>T	uc002udo.4	-	16	2870	c.2643G>A	c.(2641-2643)aaG>aaA	p.K881K	SCN1A_uc010fpk.3_Silent_p.K853K|SCN1A_uc021vsb.1_Silent_p.K870K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	881						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCGATGATCTTTATTAGCA	0.398000														65			23		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	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					47			27		0	0	1	0	0
TMEM163	81615	broad.mit.edu	37	2	135470881	135470881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:135470881C>T	uc002ttx.3	-	1	277	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	71						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTGCTGCTTTCTAGTAAGCCT	0.483000														74			33		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885163	88885163	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:88885163C>T	uc003ydz.3	-	0	1134	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	346										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGCAGGTGGCCATGACGGAG	0.607000														48			59		0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154003486	154003486	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:154003486G>A	uc004fmm.3	+	12	1486	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	DKC1_uc010nvf.3_Missense_Mutation_p.E421K	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	426					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCAAAAAAGAGGTGGTTGC	0.468000									Congenital Dyskeratosis					89			52		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084492	58084492	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:58084492C>T	uc003djj.2	+	7	1367	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I	FLNB_uc010hne.2_Missense_Mutation_p.T401I|FLNB_uc003djk.2_Missense_Mutation_p.T401I|FLNB_uc010hnf.2_Missense_Mutation_p.T401I|FLNB_uc003djl.2_Missense_Mutation_p.T232I|FLNB_uc003djm.2_Missense_Mutation_p.T232I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	401					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGAAGAACACCGTGGAGTTG	0.532000														73			30		0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34119268	34119268	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:34119268G>A	uc001mvh.1	+	17	2214	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K	CAPRIN1_uc001mvg.3_Silent_p.K675K|CAPRIN1_uc001mvi.2_Silent_p.K675K|CAPRIN1_uc001mvj.1_Silent_p.K594K	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	675					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGAATTTCAAGCGAGGCTCTG	0.443000														88			42		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848650	73848650	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:73848650T>A	uc003xzb.3	+	2	1648	c.1060T>A	c.(1060-1062)Ttt>Att	p.F354I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	354					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGCCTGGTATTTTTTGCTGA	0.463000														220			25		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314158	58314158	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:58314158G>A	uc002enf.3	-	6	1553	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	PRSS54_uc002eng.3_Silent_p.F386F|PRSS54_uc010vie.2_Silent_p.F287F|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	386					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAACAAGCACGAAGGAAACCA	0.468000														57			7		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84249096	84249096	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:84249096G>A	uc004alz.3	-	6	964	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	TLE1_uc004aly.3_Missense_Mutation_p.L165F|TLE1_uc011lsr.2_Missense_Mutation_p.L165F|TLE1_uc004ama.1_Missense_Mutation_p.L165F|TLE1_uc011lss.1_Intron	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	165	Gly/Pro-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GACAGCGCAAGAAGGCCGGCA	0.602000														7			4		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38640851	38640851	+	Silent	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38640851C>A	uc010cxb.3	-	5	1550	c.1386G>T	c.(1384-1386)ctG>ctT	p.L462L		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	462	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.E461K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCTTCCTCAGCAGCTCGATTG	0.592000														61			20		9.95505e-16	1.0228e-15	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99956599	99956599	+	Missense_Mutation	SNP	G	A	A	rs151147513		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:99956599G>A	uc004egd.4	-	4	537	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SYTL4_uc010nnc.3_Missense_Mutation_p.R61W|SYTL4_uc004ege.4_Missense_Mutation_p.R61W|SYTL4_uc004egf.4_Missense_Mutation_p.R61W|SYTL4_uc004egg.4_Missense_Mutation_p.R61W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	61	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCACAGGTCCGATCACTGTAG	0.537000														134			46		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602772	96602772	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:96602772C>T	uc010qnz.2	+	6	1140	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	CYP2C19_uc010qny.2_Silent_p.L358L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	380					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAACTACCTCATTCCCAAGG	0.468000														64			16		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197081790	197081790	+	Missense_Mutation	SNP	C	A	A	rs143511416		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:197081790C>A	uc002utm.1	-	26	4619	c.4436G>T	c.(4435-4437)cGg>cTg	p.R1479L	HECW2_uc002utl.1_Missense_Mutation_p.R1123L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1479	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.I1478V(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCAGAACCACCGAATTACAAT	0.358000														78			24		1.85244e-09	1.89195e-09	1	1	0
OR8S1	341568	broad.mit.edu	37	12	48920040	48920040	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:48920040G>A	uc010slu.2	+	0	626	c.626G>A	c.(625-627)gGa>gAa	p.G209E		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATGGGCTGGGAAACTTCCTT	0.522000														47			23		0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175704	79175704	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:79175704G>C	uc001vkv.3	-	1	1340	c.1106C>G	c.(1105-1107)tCc>tGc	p.S369C	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	369					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGCCTCGAGGGAGCGCTTCTC	0.652000														84			10		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026933	37026933	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:37026933G>A	uc004ddl.2	+	0	502	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	150										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TACAGGTACTGAAACCGCTGG	0.557000														76			27		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84255852	84255852	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:84255852C>T	uc010voc.2	-	2	1652	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	511						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AAGGCTGGGCCCTCCAGGATT	0.542000														113			55		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13186432	13186432	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:13186432C>T	uc010xmx.2	+	5	979	c.926C>T	c.(925-927)tCc>tTc	p.S309F	NFIX_uc002mwd.3_Missense_Mutation_p.S301F|NFIX_uc002mwe.3_Missense_Mutation_p.S293F|NFIX_uc002mwf.3_Missense_Mutation_p.S304F|NFIX_uc002mwg.2_Missense_Mutation_p.S300F			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	301					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACAGGCCGTTCCCCAGCAGCT	0.617000														27			7		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542545	12542545	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:12542545C>T	uc002mtu.3	-	3	639	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	147					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGAAGGCTTTCCCACGTTGTT	0.418000														81			45		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949552	7949552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:7949552G>A	uc010rbh.2	-	0	658	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACAGAACTCGAATGTAAGAC	0.433000														44			26		0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111935541	111935541	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:111935541C>T	uc001vrs.2	+	16	2094	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	ARHGEF7_uc001vrr.2_Missense_Mutation_p.P594L|ARHGEF7_uc001vrt.2_Missense_Mutation_p.P565L|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.P437L|ARHGEF7_uc001vrw.4_Missense_Mutation_p.P437L|ARHGEF7_uc001vrx.4_Missense_Mutation_p.P437L|ARHGEF7_uc010tjo.2_Missense_Mutation_p.P512L|ARHGEF7_uc010tjp.1_Missense_Mutation_p.P359L|ARHGEF7_uc001vry.1_Missense_Mutation_p.P31L|AX748212_uc001vrz.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	615					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AAGCCCGCGCCGCTGACGCCC	0.682000														6			3		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20153262	20153262	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:20153262C>T	uc003cbq.3	+	5	1472	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	342					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAACTCTAATCCTCACTCATT	0.423000														36			12		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098546	143098546	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:143098546G>A	uc003wcz.3	-	2	390	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	101						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCGCACGGTGAACTGCAGCT	0.612000														184			80		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437956	125437956	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:125437956C>T	uc011lzb.2	+	0	548	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATGTCAACCCTGTGCTGAAA	0.448000														232			21		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103053675	103053675	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:103053675G>A	uc002tbx.3	+	5	1067	c.583G>A	c.(583-585)Gga>Aga	p.G195R	IL18RAP_uc010fiz.3_Missense_Mutation_p.G53R	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	195	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATTAGAATGGAAAACTCCT	0.358000														52			17		0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700594	44700594	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:44700594G>A	uc003cnq.3	+	3	960	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ZNF35_uc003cnr.3_Missense_Mutation_p.E87K	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	247					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACACTGGAGAGAAACCCTT	0.463000														78			29		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66001661	66001661	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:66001661C>T	uc001oha.2	+	16	2186	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	PACS1_uc010rou.2_Silent_p.F220F	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	684					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTAGTTCCTTCCTGGATTCTG	0.537000														116			45		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115078973	115078973	+	RNA	SNP	C	T	T	rs148880169	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:115078973C>T	uc001eez.3	-	28		c.4670G>A				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTGAGATCCGAACTGGGCT	0.522000														41			9		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175716691	175716691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:175716691G>A	uc003mds.4	+	3	514	c.107G>A	c.(106-108)aGg>aAg	p.R36K	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R55K|C5orf25_uc003mdu.1_5'UTR			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	36												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		ACCAGACCAAGGACAAAAGAT	0.413000														23			6		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083068	1083068	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:1083068G>A	uc001lsx.1	+	15	1995	c.1968G>A	c.(1966-1968)aaG>aaA	p.K656K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	656						inner mucus layer|outer mucus layer	protein binding	p.N655Y(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCAGACAAGGATGTGGGCT	0.667000														11			5		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506687	37506687	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:37506687G>A	uc021ppc.1	+	32	3079	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E994K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1050						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAATTAGGGAAGAATTAGG	0.318000														37			14		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263943	34263944	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:34263943_34263944CC>TT	uc002nus.4	+	4	1755_1756	c.1250_1251CC>TT	c.(1249-1251)tcc>tTT	p.S417F	CHST8_uc002nut.4_Missense_Mutation_p.S417F|CHST8_uc002nuu.3_Missense_Mutation_p.S417F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	417					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCAACTATTCCAAGCCCTTTG	0.619000														24			13		0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201746	21201746	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:21201746A>G	uc002gys.3	+	1	336	c.71A>G	c.(70-72)gAt>gGt	p.D24G	MAP2K3_uc002gyt.3_5'UTR|MAP2K3_uc021tsq.1_5'UTR|MAP2K3_uc021tsr.1_5'UTR	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	24					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGGAAGAAGGATCTACGGATA	0.572000														261			46		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674371	71674371	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:71674371G>A	uc002fau.3	+	2	737	c.674G>A	c.(673-675)gGa>gAa	p.G225E	PHLPP2_uc002fav.3_Intron|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	225	MARVEL.					integral to membrane		p.A224A(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTCCTTGCCGGATTCAGTGCC	0.557000														63			24		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130476083	130476083	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:130476083C>T	uc003qbw.3	-	8	1238	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SAMD3_uc003qbx.3_Missense_Mutation_p.E304K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	304										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTGTCAATTTCTCTCCAGTCC	0.373000														37			26		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400231	89400231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:89400231C>T	uc010upo.1	+	11	4789	c.4415C>T	c.(4414-4416)tCt>tTt	p.S1472F	ACAN_uc010upp.1_Missense_Mutation_p.S1472F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1472					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGACTTCCTTCTGGAGGAGAA	0.517000														122			50		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586066	20586066	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20586066G>A	uc001vwo.1	+	0	501	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGACCATCATGAACAAGAAGG	0.458000														52			11		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78130913	78130913	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:78130913C>T	uc003ugx.3	-	4	1200	c.946G>A	c.(946-948)Ggc>Agc	p.G316S	MAGI2_uc003ugy.3_Missense_Mutation_p.G316S|MAGI2_uc011kgr.1_Missense_Mutation_p.G148S|MAGI2_uc011kgs.1_Missense_Mutation_p.G153S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	316	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGACTTCGCCCTTCTCTGTA	0.433000														59			32		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086245	175086245	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:175086245C>T	uc001gkl.1	+	9	2403	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	764	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TAGCACTGTCCTGACGGGCCT	0.637000														104			31		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723898	99723898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:99723898C>T	uc001yga.3	-	1	604	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	BCL11B_uc001ygb.3_Missense_Mutation_p.V113M	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	113						nucleus	zinc ion binding	p.P112L(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTCCACCGGCTCGGAC	0.612000			T	TLX3	T-ALL									82			9		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89655160	89655160	+	Silent	SNP	G	A	A	rs149655987	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:89655160G>A	uc002fnp.3	+	11	1360	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CPNE7_uc002fnq.3_Silent_p.P335P	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	410	VWFA.				lipid metabolic process		transporter activity	p.P410Q(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCTACCAGCCGAACGAGTACC	0.637000														34			7		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291004	141291004	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:141291004C>T	uc022cfj.1	-	0	770	c.770G>A	c.(769-771)gGg>gAg	p.G257E	MAGEC2_uc004fbu.2_Missense_Mutation_p.G257E	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	257	MAGE.					cytoplasm|nucleus		p.G257G(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATATACCCCTACTGCATT	0.527000										HNSCC(46;0.14)				200			39		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643310	31643311	+	Missense_Mutation	DNP	GG	AA	AA	rs149497264		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:31643310_31643311GG>AA	uc002wym.1	+	0	81_82	c.81_82GG>AA	c.(79-84)acggtg>acAAtg	p.V28M		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	28	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGCTAGAGACGGTGGGCACGCT	0.599000														61			34		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282176	168282176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:168282176C>T	uc001gfl.3	+	7	1334	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	TBX19_uc001gfj.4_Missense_Mutation_p.P296L|TBX19_uc001gfm.3_Missense_Mutation_p.P131L	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	428					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCGCATCCCTTCGCGGGC	0.622000														112			6		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160138668	160138668	+	Silent	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:160138668A>C	uc003fdh.3	+	12	2111	c.1998A>C	c.(1996-1998)gcA>gcC	p.A666A	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Silent_p.A430A|SMC4_uc003fdi.3_Silent_p.A641A|SMC4_uc003fdj.3_Silent_p.A666A|SMC4_uc010hwd.3_Silent_p.A666A|SMC4_uc003fdl.3_Silent_p.A369A	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	666	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGGAGTTGCAACCTTTATAG	0.363000														24			19		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432752	180432752	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:180432752C>T	uc003mmr.3	+	7	1465	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	BTNL3_uc010jlp.3_Silent_p.S212S	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	427	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ATGACCAGTCCCTTATTTATA	0.483000														60			11		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646267	71646267	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:71646267A>T	uc003xyq.3	+	4	1264	c.730A>T	c.(730-732)Ata>Tta	p.I244L	XKR9_uc010lzd.3_Missense_Mutation_p.I112L|XKR9_uc010lze.3_Missense_Mutation_p.I244L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	244						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTTAGGTATAATATGGGCATT	0.279000														65			16		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241099944	241099944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:241099944G>A	uc001hyv.2	-	4	619	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	RGS7_uc010pyh.2_Missense_Mutation_p.H71Y|RGS7_uc010pyj.1_Missense_Mutation_p.H13Y|RGS7_uc001hyu.2_Missense_Mutation_p.H97Y|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H97Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	97	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGAGGACATGATCTGAGATT	0.398000														78			51		0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204594378	204594378	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:204594378C>T	uc002vah.4	+	2	639	c.417C>T	c.(415-417)caC>caT	p.H139H	CD28_uc010zio.2_Silent_p.H42H|CD28_uc010ftx.3_Silent_p.H20H|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	139					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGGGAAACACCTTTGTCCAA	0.433000														100			51		0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95219762	95219762	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:95219762G>A	uc004ase.2	-	7	1251	c.951C>T	c.(949-951)atC>atT	p.I317I	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Missense_Mutation_p.L240F	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	317					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AATGAAGGAAGATTATCTGTT	0.338000														30			5		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27441414	27441414	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:27441414C>T	uc002dor.2	+	2	636	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	IL21R_uc002doq.2_Missense_Mutation_p.P8S|IL21R_uc002dos.2_Missense_Mutation_p.P8S	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	8					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGGGCCGCCCCCTTGCTCCT	0.721000			T	BCL6	NHL									22			6		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539567	56539567	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:56539567C>T	uc002qmj.3	+	6	1968	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NLRP5_uc002qmi.3_Silent_p.P637P	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	656						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGGCTGTCCCGTTCCCCTGG	0.592000														77			14		0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193023	102193023	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:102193023C>T	uc004ejs.3	+	0	824	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	259					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAGTGAAGATCGTCTGCCCAC	0.537000														117			45		0	0	1	0	0
MEIG1	644890	broad.mit.edu	37	10	15008489	15008489	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:15008489C>T	uc009xjk.1	+	1	170	c.22C>T	c.(22-24)Cca>Tca	p.P8S	DCLRE1C_uc021pni.1_Intron	NM_001080836	NP_001074305	Q5JSS6	MEIG1_HUMAN	Homo sapiens meiosis expressed gene 1 homolog (mouse) (MEIG1), mRNA.	8										kidney(1)|ovary(1)|prostate(1)	3						TGACGTAAAACCAAAATCAGT	0.328000														30			12		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036794	153036794	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:153036794C>T	uc010nuk.2	+	13	2623	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.L443L|PLXNB3_uc004fii.2_Silent_p.L761L|PLXNB3_uc011mzd.1_Silent_p.L400L	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	761					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGGAGCTCCCAGTGCCCA	0.632000														58			24		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182826	6182826	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:6182826G>T	uc002mef.1	+	8	1198	c.971G>T	c.(970-972)tGg>tTg	p.W324L	ACSBG2_uc002mee.1_Missense_Mutation_p.W137L|ACSBG2_uc002meg.1_Missense_Mutation_p.W324L|ACSBG2_uc002meh.1_Missense_Mutation_p.W324L|ACSBG2_uc002mei.1_Missense_Mutation_p.W274L|ACSBG2_uc010xiz.1_Missense_Mutation_p.W324L	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	324					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCAAATTTGGGAGAAGATA	0.463000														38			12		0.000151284	0.000152167	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48372385	48372385	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:48372385G>A	uc001rqu.3	-	41	3071	c.2890C>T	c.(2890-2892)Ccc>Tcc	p.P964S	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P895S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	964	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTACAGAGGGACCGTCATCT	0.667000														26			13		0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47065744	47065744	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:47065744C>T	uc004dhj.4	+	15	1990	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	UBA1_uc004dhk.4_Silent_p.F613F|UBA1_uc004dhm.3_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	613					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATCCCCTTCCTGACAGAGT	0.577000														23			14		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293208	33293208	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:33293208C>T	uc001wrq.3	+	12	6359	c.6189C>T	c.(6187-6189)atC>atT	p.I2063I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2063	PKA-RII subunit binding domain.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTAAGGAAATCATTGACATGG	0.408000														48			26		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133644	22133644	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22133644C>T	uc010tmd.2	+	0	348	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTGCTGATCATTGTGGCGT	0.453000														138			36		0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35707199	35707199	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:35707199C>T	uc003tes.4	-	5	999	c.340_splice	c.e5-1	p.S114_splice	HERPUD2_uc003tet.3_Splice_Site_p.S114_splice	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	114	Ser-rich.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GATCTGAACTCTACAAATAAA	0.358000														72			6		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92861654	92861654	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:92861654G>A	uc003umo.3	+	1	1	c.-127_splice	c.e1-1		CCDC132_uc003ump.3_Splice_Site|CCDC132_uc003umr.3_Splice_Site|CCDC132_uc011khz.2_Splice_Site|CCDC132_uc003umn.3_Splice_Site	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.											endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGAAAGACAGGATACCCTGG	0.572000														17			4		0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673167	90673167	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:90673167C>T	uc001kfk.3	+	5	1153	c.730C>T	c.(730-732)Cct>Tct	p.P244S	STAMBPL1_uc010qmx.1_Missense_Mutation_p.P244S|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.P244S|STAMBPL1_uc001kfn.3_Missense_Mutation_p.P78S	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	244							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCACTCTCCTCCTGTAAACAG	0.453000														49			47		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103380274	103380274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:103380274G>A	uc001dum.3	-	50	4264	c.3946C>T	c.(3946-3948)Cct>Tct	p.P1316S	COL11A1_uc001duk.3_Missense_Mutation_p.P500S|COL11A1_uc001dul.3_Missense_Mutation_p.P1304S|COL11A1_uc001dun.3_Missense_Mutation_p.P1265S|COL11A1_uc009weh.3_Missense_Mutation_p.P1188S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1304	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACCCTTAGGGCCATCATCA	0.512000														25			3		0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148594470	148594470	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:148594470C>T	uc001esb.2	+	21	3005	c.1843C>T	c.(1843-1845)Ccg>Tcg	p.P615S	NBPF15_uc001esc.2_Missense_Mutation_p.P615S	NM_001170755	NP_775909	Q8N660	NBPFF_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA.	615	NBPF 6.		P -> Q (in dbSNP:rs6695216).			cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TTATTCGACTCCGTCAATGTA	0.448000														344			326		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977842	71977842	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:71977842C>T	uc001swl.3	+	17	2100	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	LGR5_uc001swm.3_Silent_p.I660I|LGR5_uc021rar.1_Silent_p.I612I|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	684						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGAAAGTAATCATTTTGCTCT	0.522000														179			45		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640361	179640361	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179640361G>A	uc021vsy.1	-	27	6455	c.6230C>T	c.(6229-6231)gCt>gTt	p.A2077V	TTN_uc021vsz.1_Missense_Mutation_p.A2031V|TTN_uc021vta.1_Missense_Mutation_p.A2031V|TTN_uc021vtb.1_Missense_Mutation_p.A2031V|TTN_uc002unb.2_Missense_Mutation_p.A2077V|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2077							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)			GATTTTTGGAGCCTCCATACT	0.458000														58			31		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819244	43819245	+	Missense_Mutation	DNP	CC	TT	TT	rs145090986	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:43819244_43819245CC>TT	uc001zrt.3	+	3	6040_6041	c.5573_5574CC>TT	c.(5572-5574)tcc>tTT	p.S1858F		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1858						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.S1858S(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCACCCCTCTCCCCAGCTCCTG	0.629000														21			18		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001184	58001184	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:58001184C>T	uc002emt.2	-	1	72	c.7G>A	c.(7-9)Ggc>Agc	p.G3S	CNGB1_uc010cdh.2_Missense_Mutation_p.G3S|CNGB1_uc002emu.2_Missense_Mutation_p.G3S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	3					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGGACCCAGCCCAACATCCTG	0.582000														38			5		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104579460	104579461	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:104579460_104579461GG>AA	uc003hxe.1	-	1	789_790	c.648_649CC>TT	c.(646-651)ttccct>ttTTct	p.P217S		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	217						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGACACTGAGGGAAGGCAAGTA	0.426000														68			27		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71384103	71384103	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:71384103C>T	uc010dfm.3	-	29	4266	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	SDK2_uc002jjt.4_Nonsense_Mutation_p.W581*|SDK2_uc010dfn.2_Nonsense_Mutation_p.W1101*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1422	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCCTGGCTCCCAGGACAGCA	0.701000														4			2		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1243537	1243537	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:1243537C>T	uc002qwq.3	+	10	1006	c.877C>T	c.(877-879)Cct>Tct	p.P293S	SNTG2_uc010ewi.3_Missense_Mutation_p.P166S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	293					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGCTGCTCTCCTTCCGACCA	0.478000														10			9		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000														68			26		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650107	71650107	+	Missense_Mutation	SNP	A	C	C	rs144082774		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:71650107A>C	uc002shx.3	+	21	3786	c.3463A>C	c.(3463-3465)Aca>Cca	p.T1155P	ZNF638_uc010yqw.1_Missense_Mutation_p.T734P|ZNF638_uc002shz.3_Missense_Mutation_p.T1155P|ZNF638_uc002shy.3_Missense_Mutation_p.T1155P|ZNF638_uc002sia.3_Missense_Mutation_p.T1155P|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.T252P|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1155	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding	p.A1154fs*28(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAAAAGCAACATGTGATTC	0.413000														101			45		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150352	247150352	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:247150352C>G	uc009xgu.3	-	3	1650	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	489					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATGGTTTCTCTCTGGTATGA	0.413000														58			33		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59934624	59934624	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:59934624T>G	uc003jsh.3	-	6	924	c.851A>C	c.(850-852)gAg>gCg	p.E284A	DEPDC1B_uc011cqm.2_Missense_Mutation_p.E284A|DEPDC1B_uc011cqn.2_Missense_Mutation_p.E257A	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	284	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AAGTAGAGGCTCTTTCAAGTG	0.348000														53			9		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393182	164393182	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:164393182C>T	uc003iqp.4	-	0	1866	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	569						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCCACCTTCCCTGTAGTGA	0.532000														101			45		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106678	14106678	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:14106678C>T	uc001avi.3	+	7	3244	c.2388C>T	c.(2386-2388)agC>agT	p.S796S	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.S796S|PRDM2_uc021ogk.1_Silent_p.S559S|PRDM2_uc001avk.3_Silent_p.S595S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAACTGTGAGCCCTCCATGCT	0.473000														38			25		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963240	153963240	+	Splice_Site	SNP	T	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:153963240T>G	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTCGCTCCTTTCCGGCGGT	0.537000														100			18		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553689	19553689	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:19553689G>A	uc001vuz.1	+	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	91										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTCTGCTATGAAGACACTCA	0.622000														497			28		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21328842	21328842	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:21328842T>C	uc002ztj.2	+	6	757	c.539T>C	c.(538-540)gTg>gCg	p.V180A	LZTR1_uc002ztk.2_Missense_Mutation_p.V180A|LZTR1_uc002ztl.2_Missense_Mutation_p.V186A|LZTR1_uc011ahx.1_Missense_Mutation_p.V168A	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGACCAAGGTGATGGCCAAG	0.607000														47			4		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820439	35820439	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:35820439C>T	uc010ngt.1	+	1	405	c.126C>T	c.(124-126)tcC>tcT	p.S42S	MAGEB16_uc022bus.1_Silent_p.S42S	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	42										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTCCTCCTCCCATCCTCTAG	0.552000														22			21		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661935	40661935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:40661935C>T	uc001zlk.1	+	7	3711	c.3622C>T	c.(3622-3624)Cca>Tca	p.P1208S		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1208					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTCCCGGCCCCCACCAGCCCC	0.647000														68			30		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22293953	22293953	+	Silent	SNP	G	A	A	rs145164516	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22293953G>A	uc001wbw.2	+	1	66	c.57G>A	c.(55-57)ggG>ggA	p.G19G	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		GAATAGGGGGGAATGGCAAAA	0.443000														31			12		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058429	95058429	+	Silent	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:95058429G>T	uc001ydm.2	+	5	1284	c.1074G>T	c.(1072-1074)tcG>tcT	p.S358S	SERPINA3_uc001ydo.4_5'UTR	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	358					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGGACGAGTCGGGAACCAGAG	0.572000														248			31		2.08457e-15	2.13916e-15	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67305454	67305454	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:67305454G>A	uc002jif.2	-	2	1636	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	140					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGAAAAAAACGAAGTTCATAG	0.328000														47			14		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31489165	31489165	+	Silent	SNP	G	A	A	rs148671842	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:31489165G>A	uc002rnu.3	+	5	1811	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	EHD3_uc010ymt.2_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	401					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCCAGGAGGAGTCACAGCGGC	0.622000														59			4		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141636	114141636	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:114141636C>T	uc004epu.1	+	5	1763	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	HTR2C_uc010nqc.1_Silent_p.L345L|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	345					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAAAAGCTCATGGAAAAGC	0.383000														139			85		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:48318349G>A	uc003toq.2	+	17	7582	c.7558G>A	c.(7558-7560)Gac>Aac	p.D2520N	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2520					transport	integral to membrane	ATP binding|ATPase activity	p.D2465Y(2)|p.D2520Y(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACATCAATGGACTCCATTGT	0.428000														173			85		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:43826148C>T	uc010skx.2	-	20	3055	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E173K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E173K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1019	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGAAAATTCATTGCAATTC	0.403000														36			10		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155180844	155180844	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:155180844G>A	uc003inw.2	-	19	5277	c.5277C>T	c.(5275-5277)atC>atT	p.I1759I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1759	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCTAAAACGATGAGTTGAA	0.358000														56			33		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655959	117655959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:117655959C>T	uc001twn.2	-	28	4994	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	NOS1_uc021ren.1_Missense_Mutation_p.R1058Q|NOS1_uc021reo.1_Missense_Mutation_p.R1058Q|NOS1_uc001twm.2_Missense_Mutation_p.R1394Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1394					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.T1428T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCATGGTATCGGTTGTCATC	0.473000														199			71		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373155	126373155	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:126373155C>T	uc003ifj.4	+	8	10984	c.10984C>T	c.(10984-10986)Cca>Tca	p.P3662S	FAT4_uc011cgp.2_Missense_Mutation_p.P1960S|FAT4_uc003ifi.1_Missense_Mutation_p.P1140S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3662					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGTATTCCAGGGGGTAC	0.507000														99			11		0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690133	75690133	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:75690133T>A	uc002fet.2	+	2	970	c.824T>A	c.(823-825)aTa>aAa	p.I275K		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	275	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GATTTTGAAATACATATAACT	0.408000														57			10		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67679942	67679942	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:67679942C>T	uc002etn.3	+	3	328	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	RLTPR_uc010cel.1_Silent_p.L70L|RLTPR_uc010vjr.2_Silent_p.L70L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	70										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTTCAGCTACCTGGAGGTCCA	0.627000														52			15		0	0	1	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3146945	3146945	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:3146945G>A	uc002wia.1	-	1	1919	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ProSAPiP1_uc002wib.1_Missense_Mutation_p.S174F	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	174						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATTCTGCATGGAGTGGAAATT	0.607000														23			5		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011786	32011786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:32011786C>T	uc003nzl.2	-	33	11580	c.11378G>A	c.(11377-11379)gGa>gAa	p.G3793E	TNXB_uc003nzg.1_Missense_Mutation_p.G224E|TNXB_uc003nzh.1_Missense_Mutation_p.G262E	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3840					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCACCACCTCCGTCCGCCAG	0.617000														12			12		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128247	83128247	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:83128247C>T	uc004eei.1	+	3	552	c.531C>T	c.(529-531)tcC>tcT	p.S177S	CYLC1_uc004eeh.1_Silent_p.S176S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	177					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGTCAAAATCCAGTTCAGAAA	0.313000														38			9		0	0	1	0	0
FAM22G	441457	broad.mit.edu	37	9	99691319	99691319	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:99691319G>A	uc022bkp.1	+	0	34	c.13G>A	c.(13-15)Gga>Aga	p.G5R	FAM22G_uc004awq.2_Missense_Mutation_p.G5R	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	5										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				GGCTTCAAATGGAGGTGAGCC	0.537000														104			16		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170043353	170043353	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:170043353G>A	uc003isa.1	-	6	1579	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	SH3RF1_uc010irc.1_Intron	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	415						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGTGGCGCCTGGTGGTGTGGA	0.567000														26			11		0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978081	45978081	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:45978081G>T	uc002zfj.1	-	0	563	c.518C>A	c.(517-519)cCc>cAc	p.P173H	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	173	18 X 5 AA repeats of C-C-X(3).			Missing (in Ref. 3; AAI33678).		keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGAGGGGATGGGCACACAGCA	0.721000														124			17		8.00594e-06	8.12853e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21225802	21225802	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:21225802G>A	uc002red.3	-	28	12620	c.12492C>T	c.(12490-12492)ttC>ttT	p.F4164F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4164					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAGTCCCTGGAAACTGGCTT	0.473000														98			40		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205886448	205886448	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:205886448G>A	uc001hdp.3	-	19	2405	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	SLC26A9_uc001hdm.3_5'UTR|SLC26A9_uc001hdn.3_5'UTR|SLC26A9_uc001hdo.3_Missense_Mutation_p.S432L|SLC26A9_uc001hdq.3_Missense_Mutation_p.S764L	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	764						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTCCTCCTCTGAGTCGTACAA	0.587000														288			63		0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675792	21675792	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:21675792C>T	uc004czz.1	-	0	657	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	39	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCCGGGAATTCGCTGCCCTCG	0.662000														19			11		0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69370420	69370420	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:69370420G>A	uc002ewy.2	-	1	644	c.573C>T	c.(571-573)atC>atT	p.I191I	NIP7_uc002exa.3_5'Flank|NIP7_uc002exb.3_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	191					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGATGACAGGGATGGAAGAGT	0.483000														25			10		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41331087	41331087	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:41331087C>T	uc001uxm.4	-	3	737	c.662G>A	c.(661-663)aGa>aAa	p.R221K		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	221						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		AAGCTCTGGTCTTGAACGAAC	0.368000														46			25		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676362	52676362	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:52676362G>A	uc001vge.3	-	9	816	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	226	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P225S(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAACCCCGGAGATATTGGG	0.423000														130			51		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:58920677C>T	uc010rkp.2	+	4	1763	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_uc010rkq.2_Silent_p.V512V|FAM111A_uc010rkr.2_Silent_p.V512V|FAM111A_uc001nno.3_Silent_p.V512V|FAM111A_uc001nnp.3_Silent_p.V512V|FAM111A_uc001nnq.3_Silent_p.V512V	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	512					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428000														116			29		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	283916	283916	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:283916C>T	uc001qhw.2	+	13	3266	c.3266C>T	c.(3265-3267)aCc>aTc	p.T1089I		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	1089	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCCGGGCACCCTGGTGCAG	0.706000														16			6		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034682	16034682	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:16034682G>A	uc002nbu.2	-	6	894	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	286					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.F286S(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTTCTTGAGGAAATCATCAA	0.532000														133			48		0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115489079	115489079	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:115489079C>T	uc001lan.3	+	6	866	c.692C>T	c.(691-693)tCg>tTg	p.S231L	CASP7_uc001lam.3_Missense_Mutation_p.R220C|CASP7_uc001lao.3_Missense_Mutation_p.S264L|CASP7_uc001lap.3_Missense_Mutation_p.S231L|CASP7_uc001laq.3_Missense_Mutation_p.S231L|CASP7_uc010qsa.2_Missense_Mutation_p.S316L|CASP7_uc010qsb.2_Missense_Mutation_p.S206L	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	231					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GGCTATTACTCGTGGAGGAGC	0.507000														55			39		0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739436	21739436	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:21739436C>T	uc002kux.3	+	5	1651	c.1499_splice	c.e5-1		CABYR_uc021uig.1_Splice_Site_p.A163_splice|CABYR_uc010xbb.1_Splice_Site|CABYR_uc002kuy.3_Splice_Site_p.A181_splice|CABYR_uc002kuz.3_Intron|CABYR_uc002kva.3_Splice_Site|CABYR_uc002kvb.3_Splice_Site_p.A83_splice|CABYR_uc002kvc.3_Splice_Site_p.A181_splice|CABYR_uc010dlw.3_Intron	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.						ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TTTTTTATAGCAATGGCAACA	0.378000														76			15		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897421	175897421	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:175897421G>A	uc003iuc.3	+	4	1415	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ADAM29_uc003iud.3_Missense_Mutation_p.E249K|ADAM29_uc010irr.3_Missense_Mutation_p.E249K|ADAM29_uc011cki.2_Missense_Mutation_p.E249K|ADAM29_uc021xuo.1_Missense_Mutation_p.E249K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	249	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATTTGGTTTGGAGATCTGGAC	0.393000														126			47		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633608	69633608	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:69633608G>A	uc010lyz.3	+	9	1631	c.1340G>A	c.(1339-1341)gGg>gAg	p.G447E	C8orf34_uc003xyb.3_Missense_Mutation_p.G336E	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	361					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCCTTGCCTGGGACTGAAGAA	0.294000														52			7		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723129	58723129	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:58723129G>A	uc001nnh.2	+	6	681	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	GLYATL1_uc001nnf.3_Missense_Mutation_p.G180R|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.G180R|GLYATL1_uc001nnj.2_Missense_Mutation_p.G180R	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	180						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTCTTATTCTGGGCTGGTAAA	0.468000														46			22		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153038448	153038448	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:153038448C>T	uc010nuk.2	+	17	3223	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	PLXNB3_uc004fii.2_Silent_p.F961F|PLXNB3_uc011mzd.1_Silent_p.F600F|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	961	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGCCTTCGTGGGTGGCC	0.657000														18			8		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994209	140994209	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140994209T>C	uc004fbt.3	+	3	1343	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	340							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTCCAGATTCCTATGACC	0.468000										HNSCC(15;0.026)				452			23		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156848954	156848954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:156848954G>A	uc001fqh.1	+	14	1902	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	NTRK1_uc001fqf.1_Missense_Mutation_p.D580N|NTRK1_uc009wsi.1_Missense_Mutation_p.D315N|NTRK1_uc001fqi.1_Missense_Mutation_p.D610N|NTRK1_uc009wsk.1_Missense_Mutation_p.D613N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	616	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGTGGGGAGGATGTGGCTCC	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				48			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176651	8176651	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:8176651G>A	uc003wsh.4	-	4	3234	c.3234C>T	c.(3232-3234)ccC>ccT	p.P1078P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1078	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CCTGGGCAGGGGGGTGTGTGG	0.706000														73			43		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401925	136401925	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:136401925G>A	uc011mdl.2	+	2	647	c.90_splice	c.e2+1	p.T30_splice	ADAMTSL2_uc004cei.3_Splice_Site_p.T30_splice	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	30					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CGGGTCCACGGTGAGTGGGGT	0.607000														48			19		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542906	14542906	+	Silent	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:14542906C>A	uc010dln.3	-	0	694	c.240G>T	c.(238-240)gtG>gtT	p.V80V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	80										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGAAGTGCCCACGTTGCTCG	0.587000														375			18		5.01169e-05	5.07052e-05	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2806857	2806857	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:2806857C>A	uc022aqr.1	-	67	10756	c.10366G>T	c.(10366-10368)Gga>Tga	p.G3456*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.G2771*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.G1348*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3457						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTCTTTTCCATGAATGTCA	0.338000														34			4		0.00024832	0.000249478	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133119089	133119089	+	Silent	SNP	C	T	T	rs112142146	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:133119089C>T	uc003epn.1	+	0	300	c.162C>T	c.(160-162)ccC>ccT	p.P54P		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	54	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCCGAGCACCCGGGGTCTATG	0.662000														62			16		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265290	50265290	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:50265290G>A	uc002ppm.3	-	1	381	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	124							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCGTCATCCGGATCCCAGGGT	0.632000														72			40		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559510	140559510	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140559510G>A	uc011dai.2	+	0	2140	c.1895G>A	c.(1894-1896)aGc>aAc	p.S632N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	632	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTGCTGAGCGAGCGCGAC	0.687000														127			12		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48375094	48375094	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:48375094C>T	uc003toq.2	+	27	10099	c.10075C>T	c.(10075-10077)Cag>Tag	p.Q3359*	ABCA13_uc010kys.1_Nonsense_Mutation_p.Q433*|ABCA13_uc003tos.1_Nonsense_Mutation_p.Q185*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3359					transport	integral to membrane	ATP binding|ATPase activity	p.A3359T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCCTTTTCCAGAGAAGTGG	0.453000														39			22		0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210016822	210016822	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:210016822T>C	uc001hhr.2	+	10	1905	c.1808T>C	c.(1807-1809)tTg>tCg	p.L603S	DIEXF_uc009xcu.2_Missense_Mutation_p.L318S	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	603					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AACAAGATTTTGCCACAGTAT	0.413000														30			5		0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49104003	49104003	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:49104003C>T	uc004dnd.2	+	7	1126	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	319										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCAGCCACCTCCCGGCGGCCT	0.667000														11			3		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002902	122002902	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:122002902C>T	uc003eew.4	+	6	2569	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	CASR_uc003eev.4_Missense_Mutation_p.R701C	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	701					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAAAACCAACCGTGTCCTCCT	0.602000														61			32		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526081	68526081	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:68526081C>T	uc009xpn.1	-	8	1345	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E408K|CTNNA3_uc001jmx.4_Missense_Mutation_p.E408K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	408					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATTTCCTTTTCCCGGCCATTC	0.433000														71			19		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183601455	183601455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:183601455G>A	uc003ivd.1	+	7	1667	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	ODZ3_uc003ive.1_5'UTR	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	531	EGF-like 1.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGCGTTTCTGGAACTTGCCAT	0.423000														31			5		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231643	24231643	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:24231643G>A	uc003ccz.4	-	5	725	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	THRB_uc010hfe.3_Missense_Mutation_p.H69Y|THRB_uc003ccy.4_Missense_Mutation_p.H69Y|THRB_uc003ccx.4_Missense_Mutation_p.H69Y|THRB_uc003cdc.3_Missense_Mutation_p.H64Y|THRB_uc003cdd.3_Missense_Mutation_p.H64Y|THRB_uc003cde.1_Missense_Mutation_p.H64Y|THRB_uc021wuc.1_Missense_Mutation_p.H64Y	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	69	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTCCAGATGGAATATTGAG	0.473000														95			25		0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68055781	68055781	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:68055781G>A	uc002evh.2	-	0	1990	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	442	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTTCTGGAAGGACTGGAAGAT	0.512000														34			31		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Silent	SNP	G	A	A	rs61749084	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:6794410G>A	uc003wqu.1	-	1	63	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622000														30			5		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896482	77896482	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:77896482C>T	uc002lnw.3	+	3	3641	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1062					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAGATTATTTCCATAAGAAAC	0.338000														49			23		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43002250	43002250	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:43002250A>G	uc009vwk.1	+	1	205	c.95A>G	c.(94-96)aAg>aGg	p.K32R	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Missense_Mutation_p.K32R	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	32										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACTGCAGAGAAGGCCTTGAAA	0.363000														119			12		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488180	63488180	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:63488180C>T	uc001nxq.3	+	2	2393	c.2206C>T	c.(2206-2208)Ctt>Ttt	p.L736F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.L624F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.L717F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	736					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGTAGCATCTCTTGACTTAGA	0.413000														52			14		0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749494	8749494	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:8749494C>T	uc003wsj.1	-	0	1638	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	359										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAAAGTGGTCGGGCAGCACC	0.612000														70			24		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169206021	169206021	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:169206021G>A	uc003irp.3	-	11	1803	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	504							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGGTTTATGAGAATGCCAGTG	0.368000														50			15		0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094051	72094051	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:72094051G>A	uc002fbr.4	+	6	527	c.483G>A	c.(481-483)cgG>cgA	p.R161R	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.R102R|HP_uc021tld.1_Silent_p.R102R|HP_uc002fbt.4_Silent_p.R102R	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	161					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CAGTGCAGCGGATCCTGGGTG	0.532000														25			6		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360568	175360568	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:175360568C>T	uc001gkp.1	-	4	1444	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	TNR_uc009wwu.1_Missense_Mutation_p.E455K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	455	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTCCCCCTTCATTGTTCTGG	0.468000														25			11		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:48346753C>T	uc010rhv.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000														115			10		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16010698	16010698	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:16010698T>G	uc001mme.3	-	13	1883	c.1850A>C	c.(1849-1851)gAa>gCa	p.E617A	SOX6_uc001mmd.3_Missense_Mutation_p.E580A|SOX6_uc001mmf.3_Missense_Mutation_p.E577A|SOX6_uc001mmg.3_Missense_Mutation_p.E584A	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	604					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GACTCGTGCTTCAGCCACAGT	0.522000											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			41		0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936125	57936125	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:57936125C>T	uc004dve.3	-	0	943	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	244					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCCTCCGCCTCCTCCTGGGGC	0.756000														12			4		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680100	43680100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:43680100C>T	uc002ovu.3	-	2	762	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E211K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	211	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTCCTGTTTCATTTCTCGTG	0.502000														175			68		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070472	106070472	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:106070472C>T	uc004emo.3	+	6	1273	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.R370C|TBC1D8B_uc004emn.3_Missense_Mutation_p.R370C	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	370						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACAGCTTTTCGCTTCCATGA	0.388000														134			33		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886864	227886864	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:227886864C>T	uc021vxr.1	-	42	4217	c.4116G>A	c.(4114-4116)gtG>gtA	p.V1372V	COL4A4_uc021vxs.1_Silent_p.V1369V	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1372	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACAGTCATCCACATCTGCAG	0.567000														248			47		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90103462	90103462	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:90103462C>T	uc003kju.3	+	72	14976	c.14880C>T	c.(14878-14880)ttC>ttT	p.F4960F	GPR98_uc003kjt.3_Silent_p.F2666F|GPR98_uc003kjw.3_Silent_p.F621F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4960					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAGTTTTCCTGTGGACGT	0.468000														22			9		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5112559	5112559	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:5112559G>A	uc010bud.3	-	1	462	c.225C>T	c.(223-225)gtC>gtT	p.V75V	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.V75V	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	75						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						ACTTCTCCCGGACACTTTTTA	0.537000														67			37		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805847	157805847	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:157805847C>T	uc001frk.4	-	2	297	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	52	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.G52C(2)|p.D51D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGTCCCAGCCGTCATCACAC	0.617000														144			161		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306718	54306718	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:54306718G>A	uc021smr.1	+	0	1618	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	UNC13C_uc021sms.1_Missense_Mutation_p.D540N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCACAGAGTGATTTTTTCAC	0.368000														48			16		0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22646955	22646955	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:22646955G>A	uc001mql.1	-	0	433	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.	134					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGGCAAGGCGGGCCAGGCTCT	0.647000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		164			76		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755571	39755571	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:39755571G>A	uc010gnw.3	-	11	1510	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.A398A|ERG_uc011aek.2_Silent_p.A306A|ERG_uc010gnv.3_Silent_p.A282A|ERG_uc010gnx.3_Silent_p.A381A|ERG_uc011ael.2_Silent_p.A405A|ERG_uc002yxb.3_Silent_p.A381A	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	405					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GGGGCTGGAGGGCCTGGGCGA	0.582000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									118			42		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95566470	95566471	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:95566470_95566471GG>AA	uc001tdp.4	-	2	2715_2716	c.2491_2492CC>TT	c.(2491-2493)ccc>TTc	p.P831F	FGD6_uc009zsx.3_5'UTR	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	831					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCATCAGAGGGAAGGTCACCA	0.441000														78			24		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196829	101196829	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:101196829T>C	uc001dti.3	+	5	1501	c.1280T>C	c.(1279-1281)gTt>gCt	p.V427A	VCAM1_uc010ouj.2_Missense_Mutation_p.V365A|VCAM1_uc001dtj.3_Missense_Mutation_p.V335A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	427	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTGCAAGGTTCCTAGCGTG	0.463000														63			11		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999725	72999725	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:72999725C>T	uc002lly.3	+	1	2791	c.2228C>T	c.(2227-2229)cCc>cTc	p.P743L	TSHZ1_uc021uln.1_Missense_Mutation_p.P743L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	788						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGGTGTACCCCGCCACCCCT	0.587000														32			24		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130130909	130130909	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:130130909A>G	uc001qga.3	-	1	1254	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZBTB44_uc001qgb.4_Missense_Mutation_p.V287A|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.V287A|ZBTB44_uc001qfz.3_Missense_Mutation_p.V287A	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TTTGACCCGGACATCTTCTTC	0.468000														92			45		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101351093	101351093	+	Silent	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:101351093C>A	uc010txj.1	-	0	92	c.33G>T	c.(31-33)acG>acT	p.T11T	MIR136_uc010txk.1_Non-coding_Transcript	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	11										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCTCCATCATCGTCTCAAATG	0.512000														32			5		0.184627	0.184627	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343404	248343404	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248343404C>T	uc010pzf.2	+	0	117	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TAGTGGCCTTCATGGGAAACT	0.522000														376			250		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111356938	111356938	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:111356938G>A	uc001try.4	-	1	134	c.63C>T	c.(61-63)ttC>ttT	p.F21F	MYL2_uc001trx.4_Silent_p.F2F	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	21					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGGTCTGTTCGAACATGGAGA	0.507000														36			5		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887257	98887257	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:98887257G>A	uc002syo.3	+	21	3220	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	VWA3B_uc002sym.3_Missense_Mutation_p.E986K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E643K|VWA3B_uc002syp.1_Missense_Mutation_p.E378K|VWA3B_uc002syq.1_Missense_Mutation_p.E262K|VWA3B_uc002syr.1_Missense_Mutation_p.E303K|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	986										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTGGAAAGTGAAATCCTAGC	0.473000														88			55		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120151077	120151077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:120151077C>T	uc001txj.2	-	34	4566	c.4510G>A	c.(4510-4512)Ggc>Agc	p.G1504S	CIT_uc001txh.2_Missense_Mutation_p.G981S|CIT_uc001txi.2_Missense_Mutation_p.G1462S	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1462	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTCCCAGCCTTGCTGTCCT	0.448000														185			56		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40604331	40604331	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:40604331T>C	uc002yxk.2	-	23	3155	c.2860A>G	c.(2860-2862)Aaa>Gaa	p.K954E	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.K954E|BRWD1_uc010god.1_5'Flank	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAAGGAGATTTTCTAAGTGTG	0.348000														38			30		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	361463	361463	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:361463G>A	uc003bot.3	+	2	646	c.4G>A	c.(4-6)Gag>Aag	p.E2K	CHL1_uc003bou.3_Missense_Mutation_p.E2K|CHL1_uc003bow.2_Missense_Mutation_p.E2K|CHL1_uc011asi.2_Missense_Mutation_p.E2K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	2					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGAGCAATGGAGCCGCTTTT	0.373000														27			8		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41155163	41155163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:41155163G>A	uc003jmk.2	-	13	2222	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	C6_uc003jml.1_Missense_Mutation_p.S671L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	671	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTAAGGCATGAAATTTCAAC	0.398000														99			21		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330037	138330037	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:138330037G>A	uc002tva.1	+	15	3244	c.3244G>A	c.(3244-3246)Gaa>Aaa	p.E1082K	THSD7B_uc010zbj.1_Intron	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)		CAACCAGGATGAAATTCCCCC	0.448000														28			12		0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127677213	127677213	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:127677213G>T	uc009yan.3	+	2	389	c.285G>T	c.(283-285)gaG>gaT	p.E95D	FANK1_uc010quk.1_Missense_Mutation_p.E89D|FANK1_uc001ljh.4_Missense_Mutation_p.E95D|FANK1_uc001lji.3_Missense_Mutation_p.E89D	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	95	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GGGAGTGTGAGTACAGCCCAC	0.488000														59			57		5.0973e-17	5.24955e-17	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163253416	163253416	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:163253416G>A	uc002uch.2	-	10	2676	c.2447C>T	c.(2446-2448)gCc>gTc	p.A816V		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	816					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCCAGGTTTGGCATAAAGATG	0.373000														34			21		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346324	37346324	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:37346324G>A	uc001caz.2	-	2	596	c.461C>T	c.(460-462)cCc>cTc	p.P154L	GRIK3_uc001cba.1_Missense_Mutation_p.P154L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	154					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCGTAGTCGGGGTAGAGGTT	0.607000														135			19		0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982761	55982761	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:55982761C>T	uc010zzj.2	+	3	763	c.579C>T	c.(577-579)gcC>gcT	p.A193A	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	193					3'-UTR-mediated mRNA stabilization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing	cytosol|nucleus	RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACCCATACGCCGCCTCGCCTG	0.701000														29			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55496482	55496482	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55496482G>A	uc021vbq.1	+	6	2209	c.2098G>A	c.(2098-2100)Gat>Aat	p.D700N	NLRP2_uc010yfp.2_Missense_Mutation_p.D677N|NLRP2_uc002qij.3_Missense_Mutation_p.D700N|NLRP2_uc010esp.3_Missense_Mutation_p.D678N|NLRP2_uc010esn.3_Missense_Mutation_p.D676N|NLRP2_uc010eso.3_Missense_Mutation_p.D697N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	700					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCAAATAAGGATCTGATGGG	0.443000														114			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307480	140307480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140307480G>A	uc003lih.2	+	0	1179	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.D335N	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	360	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGTGAACGATCATGCCCC	0.532000														89			87		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479772	86479772	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:86479772C>T	uc003uid.3	+	4	3577	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	GRM3_uc010lef.3_Missense_Mutation_p.P469S|GRM3_uc010leg.3_Silent_p.I698I|GRM3_uc010leh.3_Silent_p.I418I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	826					synaptic transmission	integral to plasma membrane		p.I826I(2)|p.L827V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCACATCATCCTGTTTCAAC	0.488000														63			13		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537824	55537824	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:55537824A>T	uc003xsd.1	+	3	1530	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	461					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACAAAAGAAATCTGTGATT	0.423000														56			49		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19118936	19118936	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:19118936G>A	uc002zow.2	+	0	616	c.24G>A	c.(22-24)agG>agA	p.R8R	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	8					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542000														59			57		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42393388	42393388	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:42393388A>C	uc001uyj.3	-	14	1905	c.1835T>G	c.(1834-1836)gTg>gGg	p.V612G	KIAA0564_uc001uyk.3_Missense_Mutation_p.V612G	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	612						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTCACTTTTCACAAGTGGTTT	0.388000														28			11		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063197	72063197	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:72063197C>T	uc021rkj.1	-	6	2083	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S	DACH1_uc021rkk.1_Missense_Mutation_p.G406S|DACH1_uc021rkl.1_Missense_Mutation_p.G352S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	604					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GATGGAAAACCTGGAGGCAGT	0.468000														136			37		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6860208	6860208	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:6860208C>T	uc003gjr.4	+	5	956	c.493C>T	c.(493-495)Cct>Tct	p.P165S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P165S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	165							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAATTATCCCCTCCAGCAAA	0.353000														34			6		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26073252	26073252	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:26073252G>A	uc001bkm.2	+	2	1061	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MAN1C1_uc009vry.1_Missense_Mutation_p.G64E	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	244					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCCTGGGTGGGAGAGAGCTTC	0.642000														18			11		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074319	32074319	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:32074319G>A	uc003jhl.3	+	17	3495	c.3107G>A	c.(3106-3108)gGt>gAt	p.G1036D	PDZD2_uc003jhm.3_Missense_Mutation_p.G1036D|PDZD2_uc011cnx.1_Missense_Mutation_p.G862D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1036					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCTTCTTGGTAGCTCAGTG	0.577000														71			82		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279738	152279738	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152279738C>T	uc001ezu.1	-	2	7660	c.7624G>A	c.(7624-7626)Gac>Aac	p.D2542N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2542	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGCTGTCGGCCCGAGAG	0.582000									Ichthyosis					637			137		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304015	47304015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:47304015G>A	uc001ner.1	+	8	1744	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	MADD_uc001neq.2_Missense_Mutation_p.R518Q|MADD_uc001nev.1_Missense_Mutation_p.R518Q|MADD_uc001nes.1_Missense_Mutation_p.R518Q|MADD_uc001net.1_Missense_Mutation_p.R518Q|MADD_uc009yln.1_Missense_Mutation_p.R518Q|MADD_uc001neu.1_Missense_Mutation_p.R518Q|MADD_uc001nez.2_Missense_Mutation_p.R518Q|MADD_uc001new.2_Missense_Mutation_p.R518Q|MADD_uc001nex.2_Missense_Mutation_p.R518Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	518	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTTTCCTCGGCCTGTGGTA	0.557000														80			19		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558462	113558462	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:113558462G>A	uc010ljy.1	-	0	621	c.590C>T	c.(589-591)cCt>cTt	p.P197L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	197	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTTGATAAGGAGGAACCAA	0.333000														66			16		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995342	140995342	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140995342G>A	uc004fbt.3	+	3	2476	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E377K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	718							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGAGTGGGAGGACTCCCT	0.557000										HNSCC(15;0.026)				190			44		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183664465	183664465	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:183664465C>T	uc003ivd.1	+	17	3597	c.3522C>T	c.(3520-3522)gcC>gcT	p.A1174A	ODZ3_uc003ive.1_Silent_p.A580A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1174					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTTACTGGCCCCAGTGGCGC	0.527000														39			19		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139918661	139918661	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:139918661C>T	uc003lfs.2	+	32	7716	c.7562C>T	c.(7561-7563)gCc>gTc	p.A2521V	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.A2521V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.A1277V|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.A1176V|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.A897V|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.A666V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2521						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTGATGCCCAGCAGGTA	0.368000														38			6		0	0	1	0	0
EIF3IP1	442720	broad.mit.edu	37	7	109599922	109599922	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:109599922G>C	uc003vfp.1	-	0	349	c.176C>G	c.(175-177)aCg>aGg	p.T59R						Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																		CATGGAGAACGTGATGATATT	0.473000														10			11		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640335	104640335	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:104640335G>A	uc003hxe.1	-	0	639	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	166						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACACAGCTGTGATAGGAAAGA	0.522000														39			17		0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223085957	223085957	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:223085957G>A	uc010fwo.3	-	5	1323	c.942C>T	c.(940-942)ccC>ccT	p.P314P	PAX3_uc002vmt.2_Silent_p.P314P|PAX3_uc002vmy.2_Silent_p.P313P|PAX3_uc002vmv.2_Silent_p.P314P|PAX3_uc002vmw.2_Silent_p.P314P|PAX3_uc002vmx.2_Silent_p.P314P	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	314					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATAGATGTGGGCTGGTAAG	0.498000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							227			108		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52723474	52723474	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:52723474C>T	uc002pyp.3	+	10	1630	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	PPP2R1A_uc010ydk.2_Silent_p.S390S|PPP2R1A_uc002pyq.3_Silent_p.S266S	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	445	PP2A subunit C binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AACTTAACTCCTTGTGCATGG	0.537000			Mis		clear cell ovarian carcinoma									110			29		0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156085021	156085021	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:156085021G>A	uc001fni.2	+	0	561	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LMNA_uc001fnf.1_Silent_p.L104L|LMNA_uc001fng.2_Silent_p.L104L|LMNA_uc001fnh.2_Silent_p.L104L|LMNA_uc009wro.1_Silent_p.L104L	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	104	Coil 1B.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCCTGCAGCTGGAGCTGAGCA	0.687000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					38			8		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452175	138452175	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:138452175G>A	uc003ihe.4	-	0	1455	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	PCDH18_uc003ihf.4_Silent_p.I349I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I136I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	356					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACATGAGGTTGATGTTAATTT	0.363000														33			15		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408896	141408896	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:141408896C>T	uc003vwn.2	+	0	744	c.338C>T	c.(337-339)cCc>cTc	p.P113L	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	113					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCTCTACTCCCAAAGTAAGT	0.522000														102			26		0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516850	192516850	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:192516850G>A	uc011bsp.2	-	1	1122	c.801C>T	c.(799-801)gtC>gtT	p.V267V		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	267										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACCCACTGATGACCTCTTCCT	0.507000														31			14		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73559030	73559030	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:73559030C>T	uc001jrx.4	+	48	7598	c.7208C>T	c.(7207-7209)tCc>tTc	p.S2403F	CDH23_uc001jsg.4_Missense_Mutation_p.S166F|CDH23_uc001jsh.4_Missense_Mutation_p.S166F|CDH23_uc001jsi.4_Missense_Mutation_p.S166F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2406	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCAGCCCTCCTACCAGGTG	0.622000														19			24		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010709	86010709	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:86010709C>T	uc003dql.3	+	6	861	c.861C>T	c.(859-861)ttC>ttT	p.F287F	CADM2_uc003dqj.3_Silent_p.F285F|CADM2_uc003dqk.3_Silent_p.F294F|CADM2_uc003dqm.2_Silent_p.F177F|CADM2_uc021xay.1_Silent_p.F177F|CADM2_uc021xaz.1_Silent_p.F177F|CADM2_uc021xba.1_Silent_p.F177F	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	285	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.L286I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACATTCTTTTCCTGAACAAAA	0.433000														92			17		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437169	120437169	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:120437169G>A	uc001eij.3	-	0	1979	c.1791C>T	c.(1789-1791)ccC>ccT	p.P597P		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTATTCCCATGGGTTTCATGG	0.443000														127			16		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345115	20345115	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20345115C>T	uc001vwh.1	+	0	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCATTCTTCCAGAGGATCA	0.383000														350			20		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692070	49692070	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:49692070G>A	uc003cxe.4	+	4	5195	c.5081G>A	c.(5080-5082)aGg>aAg	p.R1694K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1694					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGGAAGCGAGGAAGTATGGT	0.582000														86			37		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897468	21897468	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:21897468G>A	uc001war.2	-	1	935	c.870C>T	c.(868-870)gtC>gtT	p.V290V	CHD8_uc001was.2_Silent_p.V11V	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	290					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGCTGGAGGACCAGGGTGA	0.478000														37			5		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123051503	123051503	+	Nonsense_Mutation	SNP	C	A	A	rs79462429	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:123051503C>A	uc003egh.2	-	3	1426	c.1426G>T	c.(1426-1428)Gag>Tag	p.E476*	ADCY5_uc021xdd.1_Nonsense_Mutation_p.E126*|ADCY5_uc003egg.2_Nonsense_Mutation_p.E109*|ADCY5_uc003egi.1_Nonsense_Mutation_p.E35*	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	476	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.I475M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGAAGCCCTCGATGTCAGCA	0.532000														22			9		7.48243e-07	7.60596e-07	1	1	0
NR3C2	4306	broad.mit.edu	37	4	149356521	149356521	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:149356521C>T	uc003ilj.4	-	1	1855	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	NR3C2_uc003ilk.4_Missense_Mutation_p.D498N|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	498	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTCCCATCATCTGGTTCTTGT	0.493000														86			36		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117250629	117250629	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:117250629C>T	uc003vjd.3	+	18	3177	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	CFTR_uc011knq.2_Silent_p.I421I	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1015	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACCCTACATCTTTGTTGCAA	0.373000									Cystic Fibrosis					49			27		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986936	166986937	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:166986936_166986937CC>TT	uc003irh.2	+	15	2756_2757	c.2109_2110CC>TT	c.(2107-2112)tcccag>tcTTag	p.Q704*	TLL1_uc011cjn.2_Nonsense_Mutation_p.Q727*|TLL1_uc011cjo.2_Nonsense_Mutation_p.Q528*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	704	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGATCACATCCCAGTTCAACAA	0.391000														91			24		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800972	21800972	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:21800972C>T	uc002zur.4	+	2	2018	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G	HIC2_uc002zus.4_Silent_p.G596G	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	596					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGCGGGGGCAAGTTCACCC	0.647000														126			9		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814775	106814775	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:106814775C>T	uc003ymd.3	+	7	2488	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S553F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	822					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)			TCCAGTGTTTCCTGCCTAGAG	0.453000														6			6		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933628	44933628	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:44933628C>T	uc002oze.1	-	5	1762	c.1328G>A	c.(1327-1329)tGt>tAt	p.C443Y	ZNF229_uc010ejk.1_Missense_Mutation_p.C97Y|ZNF229_uc010ejl.1_Missense_Mutation_p.C437Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGACTTGGCACAGAAGCCTTT	0.562000														47			12		0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583901	118583901	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:118583901C>T	uc002tlh.1	+	10	1677	c.1578C>T	c.(1576-1578)gcC>gcT	p.A526A		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	526	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGGCATGCCTTGCTCATTT	0.443000														30			20		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41010021	41010021	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:41010021C>T	uc002ony.3	+	11	1733	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	SPTBN4_uc002onx.3_Silent_p.D549D|SPTBN4_uc002onz.3_Silent_p.D549D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	549					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACATGGTGGACTGGATGGAGG	0.632000														47			12		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062001	194062001	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:194062001G>A	uc003fts.3	-	1	1521	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	CPN2_uc021xix.1_Silent_p.A477A	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	477					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ACTGGCTCCGGGCTGCCCTTT	0.667000														73			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106484	90106484	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:90106484C>T	uc003kju.3	+	73	15503	c.15407C>T	c.(15406-15408)tCc>tTc	p.S5136F	GPR98_uc003kjt.3_Missense_Mutation_p.S2842F|GPR98_uc003kjw.3_Missense_Mutation_p.S797F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5136					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S5136F(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGATATTTCCTTCCCCGAG	0.433000														192			20		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876829	139876829	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:139876829G>A	uc003lfs.2	+	14	3124	c.2970G>A	c.(2968-2970)caG>caA	p.Q990Q	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.Q1009Q|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.Q990Q|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.Q470Q|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	990						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCTCAGACGCTTACCG	0.418000														117			20		0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	T	T	rs1055042	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000														35			4		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228163401	228163401	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:228163401C>T	uc002vom.2	+	42	3917	c.3755C>T	c.(3754-3756)gCg>gTg	p.A1252V	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1252	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AATTCAGGTGCGCCTGGTCCC	0.483000														53			7		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807096	143807096	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:143807096A>T	uc011ktz.2	+	0	421	c.421A>T	c.(421-423)Acg>Tcg	p.T141S		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T141T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGAGTGTGCACGATCCTGGT	0.517000														115			41		0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225594435	225594435	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:225594435C>T	uc001hoy.3	-	10	1588	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	LBR_uc001hoz.3_Missense_Mutation_p.A472T	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	472					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAATAAAAGGCTTGGAAGCTG	0.398000														42			16		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115932877	115932877	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:115932877G>A	uc004bgs.2	-	24	2844	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	FKBP15_uc004bgr.2_Silent_p.S334S|FKBP15_uc011lxc.1_Silent_p.S478S|FKBP15_uc011lxd.1_Silent_p.S829S	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	897					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCTCCGTAAGGACTGGAACA	0.443000														96			30		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821284	5821284	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:5821284C>T	uc010ndi.3	-	5	2010	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	NLGN4X_uc004crp.3_Missense_Mutation_p.E499K|NLGN4X_uc010ndh.3_Missense_Mutation_p.E479K|NLGN4X_uc004crq.3_Missense_Mutation_p.E479K|NLGN4X_uc004crr.3_Missense_Mutation_p.E479K|NLGN4X_uc010ndj.3_Missense_Mutation_p.E479K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	479					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTTCATTTCGCTTTGGCAG	0.602000														107			24		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176857236	176857236	+	Silent	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:176857236G>T	uc001glc.3	-	17	3257	c.3045C>A	c.(3043-3045)ctC>ctA	p.L1015L	ASTN1_uc001glb.1_Silent_p.L1015L|ASTN1_uc001gld.1_Silent_p.L1015L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1023					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGTGGGGAGTCCATCAG	0.507000														46			5		0.014758	0.0147923	1	1	0
POMT2	29954	broad.mit.edu	37	14	77762534	77762534	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:77762534G>A	uc001xti.2	-	8	1290	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	POMT2_uc001xth.1_Silent_p.P61P	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	363	MIR 1.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAATGCCCTCGGGGTAGAGGT	0.577000														8			4		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168201	115168201	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:115168201C>T	uc001efd.1	-	3	1107	c.405G>A	c.(403-405)gaG>gaA	p.E135E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.E135E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	135										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATGAAGTCTCTGGATCTA	0.363000														50			10		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15886035	15886035	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:15886035G>A	uc001aws.3	+	7	1158	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	DNAJC16_uc001awr.1_Silent_p.K346K|DNAJC16_uc001awt.3_Silent_p.K34K|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	346					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGTATGAAGAAGCAAATCA	0.423000														131			16		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157920882	157920882	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:157920882C>T	uc003fbt.3	+	3	453	c.342C>T	c.(340-342)ctC>ctT	p.L114L	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Silent_p.L114L|RSRC1_uc003fbv.3_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	114	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GACCTCGTCTCCGTTCTCATA	0.403000														28			3		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158597458	158597458	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158597458C>T	uc001fst.1	-	39	5820	c.5621G>A	c.(5620-5622)cGa>cAa	p.R1874Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1874					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTTTGTACTCGGGTCTCATG	0.428000														89			83		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58131696	58131696	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:58131696C>T	uc003djj.2	+	32	5639	c.5474C>T	c.(5473-5475)tCt>tTt	p.S1825F	FLNB_uc010hne.2_Missense_Mutation_p.S1856F|FLNB_uc003djk.2_Missense_Mutation_p.S1814F|FLNB_uc010hnf.2_Missense_Mutation_p.S1801F|FLNB_uc003djl.2_Missense_Mutation_p.S1645F|FLNB_uc003djm.2_Missense_Mutation_p.S1632F	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1825					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGTGTTTCTGCATACGGT	0.502000														96			52		0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54981663	54981663	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:54981663C>T	uc002iut.3	-	2	940	c.880G>A	c.(880-882)Gag>Aag	p.E294K	TRIM25_uc010dcj.3_Missense_Mutation_p.E86K	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	294	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGTTCAATCTCCTCCTTCAAG	0.428000														156			71		0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172571559	172571559	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:172571559C>T	uc003mci.4	+	0	115	c.11C>T	c.(10-12)cCc>cTc	p.P4L	BNIP1_uc003mcj.4_Missense_Mutation_p.P4L|BNIP1_uc003mck.4_Missense_Mutation_p.P4L|BNIP1_uc003mcl.4_Missense_Mutation_p.P4L|BNIP1_uc021yhw.1_5'Flank	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	4					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGGCGGCTCCCCAAGACGTC	0.612000											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			12		0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61727429	61727429	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:61727429G>A	uc001nsr.2	+	7	1406	c.834G>A	c.(832-834)tgG>tgA	p.W278*	BEST1_uc010rlq.1_Missense_Mutation_p.G346E|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Nonsense_Mutation_p.W338*|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Nonsense_Mutation_p.W278*|BEST1_uc001nst.3_Nonsense_Mutation_p.W251*|BEST1_uc010rlu.1_Missense_Mutation_p.G300E|BEST1_uc010rlv.2_Nonsense_Mutation_p.W232*	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	338					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACATGTACTGGAATAAGCCCG	0.597000														11			5		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391529	61391529	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:61391529G>A	uc002ydf.3	+	3	1538	c.1167G>A	c.(1165-1167)agG>agA	p.R389R		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	389						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGCGGCGCAGGAGGAAGAGGC	0.642000														157			19		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058501	53058501	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:53058501C>T	uc010epq.1	+	4	2509	c.2332C>T	c.(2332-2334)Ctt>Ttt	p.L778F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTGGTCATCCCTTGTATACCA	0.438000														236			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811819	13811819	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:13811819C>T	uc003jfd.2	-	43	7386	c.7344G>A	c.(7342-7344)gaG>gaA	p.E2448E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2448					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)					CCTCCAGCACCTCCATCTTGT	0.433000									Kartagener syndrome					76			36		0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97319244	97319244	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:97319244C>T	uc001yft.3	+	5	557	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	151	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AAGGTTTTCTCGGAAAACTGT	0.338000														37			4		0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275399	58275399	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:58275399G>A	uc010rki.2	-	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	60					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)				GGTTACTGAGGAAAAAGTACA	0.502000														51			26		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635183	32635183	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:32635183G>A	uc003zrg.1	-	0	485	c.395C>T	c.(394-396)cCc>cTc	p.P132L	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	132					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTGGTAAAGGGGCTGCAAGCT	0.483000														50			63		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94083625	94083625	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:94083625A>G	uc001ybv.1	+	25	3817	c.3734A>G	c.(3733-3735)aAg>aGg	p.K1245R	UNC79_uc001ybs.1_Missense_Mutation_p.K1223R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1400						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGTGGTTGAAGGCCTTGCTT	0.498000														67			9		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343103	40343104	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:40343103_40343104GG>AA	uc002hzd.3	-	4	1498_1499	c.1014_1015CC>TT	c.(1012-1017)ctcctt>ctTTtt	p.L339F	GHDC_uc002hzg.2_Missense_Mutation_p.L339F|GHDC_uc010wgg.2_Missense_Mutation_p.L300F|GHDC_uc002hze.4_Missense_Mutation_p.L339F|GHDC_uc002hzf.4_Missense_Mutation_p.L339F	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	339						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCGGCCAAAAGGAGGGTGGAGG	0.658000														83			15		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578849	9578849	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9578849G>A	uc002mlp.1	-	9	984	c.774C>T	c.(772-774)acC>acT	p.T258T	ZNF560_uc010dwr.1_Silent_p.T152T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTATGGTAGAGGTTTTATTGT	0.373000														83			22		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055936	58055936	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:58055936G>A	uc021rtp.1	-	2	631	c.582C>T	c.(580-582)ttC>ttT	p.F194F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F72F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAACCTACCTGAATTTTTTCA	0.338000														30			14		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54403620	54403620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:54403620G>A	uc002iun.1	+	2	136	c.101G>A	c.(100-102)aGc>aAc	p.S34N		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	34										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGAGGCTGAGCCACAGGAGA	0.438000														76			33		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818843	101818843	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:101818843C>T	uc001pgm.3	+	3	746	c.476C>T	c.(475-477)cCc>cTc	p.P159L	KIAA1377_uc001pgn.3_Missense_Mutation_p.P115L|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	159							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GTAAACCTTCCCTTTTCCCGT	0.343000														25			11		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540752	28540752	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:28540752C>A	uc003nlo.3	-	3	3532	c.2914G>T	c.(2914-2916)Ggt>Tgt	p.G972C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	972					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaagctgcaccatcagaacat	0.358000														111			9		7.48243e-07	7.60596e-07	1	1	0
OR51A4	401666	broad.mit.edu	37	11	4967551	4967551	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:4967551G>A	uc010qys.2	-	0	780	c.780C>T	c.(778-780)gcC>gcT	p.A260A		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGGACAACGGCCAGGTTGA	0.468000														75			11		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103438659	103438659	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:103438659G>C	uc001vpq.4	-	8	1798	c.1414C>G	c.(1414-1416)Caa>Gaa	p.Q472E	KDELC1_uc001vpr.4_Missense_Mutation_p.Q253E	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	472						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCGGATTTGGGGCTCACTC	0.423000														88			46		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419273	179419273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179419273C>T	uc021vsy.1	-	280	81322	c.81097G>A	c.(81097-81099)Gga>Aga	p.G27033R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20728R|TTN_uc021vta.1_Missense_Mutation_p.G20661R|TTN_uc021vtb.1_Missense_Mutation_p.G20536R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27960	Fibronectin type-III 97.						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)			TATTCATTTCCTTTGATAATT	0.453000														49			9		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73641371	73641371	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:73641371G>A	uc004ebt.2	+	0	287	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	0						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	cagcggcagcggcagcagcag	0.706000														5			2		0	0	1	0	0
C10orf111	221060	broad.mit.edu	37	10	15138530	15138530	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:15138530C>T	uc001inw.3	-	1	568	c.294G>A	c.(292-294)ttG>ttA	p.L98L	C10orf111_uc021pnj.1_Silent_p.L98L|RPP38_uc001iny.4_5'Flank|RPP38_uc009xjm.3_5'Flank|RPP38_uc001inx.4_5'Flank	NM_153244	NP_694976	Q8N326	CJ111_HUMAN	Homo sapiens chromosome 10 open reading frame 111 (C10orf111), mRNA.	98						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						AAGGGTAGATCAACAGATCCA	0.527000														62			20		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43280578	43280578	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:43280578A>T	uc003jno.3	+	3	1939	c.1058A>T	c.(1057-1059)gAa>gTa	p.E353V		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	353							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTCAAGGAAGAAGAAAATGAG	0.448000														143			26		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444290	75444290	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:75444290G>T	uc001sxg.1	-	2	2039	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T	KCNC2_uc009zry.3_Missense_Mutation_p.P499T|KCNC2_uc001sxe.3_Missense_Mutation_p.P499T|KCNC2_uc001sxf.3_Missense_Mutation_p.P499T|KCNC2_uc010stw.1_Missense_Mutation_p.P499T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	499					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGAGGAGCAGGAGGGATGTGC	0.443000														69			11		3.86212e-05	3.91204e-05	1	1	0
RXFP2	122042	broad.mit.edu	37	13	32365998	32365998	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:32365998C>T	uc001utt.3	+	14	1272	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	RXFP2_uc010aba.3_Missense_Mutation_p.P377S	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	401						integral to membrane|plasma membrane		p.P401S(2)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATATGTATGCCCTTGACGGA	0.393000														72			28		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170066148	170066148	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:170066148C>T	uc002ues.3	-	37	6497	c.6284G>A	c.(6283-6285)cGa>cAa	p.R2095Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R2095Q(4)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTGCGTTTCGTCCTGGAAG	0.413000														44			19		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445153	150445153	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:150445153C>T	uc009wlr.3	+	10	3930	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.P1217P	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1243	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTCGAACCCCTTCACAAAGG	0.597000														203			10		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077473	79077474	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:79077473_79077474CC>TT	uc002jzg.2	+	7	922_923	c.814_815CC>TT	c.(814-816)ccg>TTg	p.P272L	BAIAP2_uc002jyz.4_Missense_Mutation_p.P272L|BAIAP2_uc002jza.2_Missense_Mutation_p.P272L|BAIAP2_uc002jzc.2_Missense_Mutation_p.P272L|BAIAP2_uc002jzb.2_Missense_Mutation_p.P29L|BAIAP2_uc010wuh.1_Missense_Mutation_p.P194L|BAIAP2_uc002jzd.2_Missense_Mutation_p.P272L|BAIAP2_uc002jzf.2_Missense_Mutation_p.P272L|BAIAP2_uc002jze.2_Missense_Mutation_p.P305L|BAIAP2_uc002jzh.2_Missense_Mutation_p.P273L|BAIAP2_uc010wui.2_Missense_Mutation_p.P135L	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	272					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGACCCCATTCCGGGGGCCAAG	0.698000														42			18		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66620283	66620283	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:66620283G>A	uc001ojn.1	-	11	1587	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I	PC_uc001ojo.1_Missense_Mutation_p.T513I|PC_uc001ojp.1_Missense_Mutation_p.T513I	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	513					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AATCGGGGTGGTTGGACCGTT	0.637000														41			11		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606572	21606572	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:21606572C>T	uc002npw.3	+	3	1230	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	ZNF493_uc002npx.3_Missense_Mutation_p.H243Y|ZNF493_uc002npy.3_Missense_Mutation_p.H243Y|ZNF493_uc021urq.1_Missense_Mutation_p.H243Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAAAGAATTCATACTGGAGA	0.343000														56			7		0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37076681	37076681	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:37076681G>A	uc002rpn.3	-	17	2270	c.2261C>T	c.(2260-2262)tCg>tTg	p.S754L	STRN_uc010ezx.3_Missense_Mutation_p.S717L	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	754					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATCATGAATCGATTCTTCAAA	0.393000														65			23		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241700	36241700	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:36241700C>T	uc021rid.1	+	55	9125	c.8591C>T	c.(8590-8592)tCa>tTa	p.S2864L	NBEA_uc021ric.1_Missense_Mutation_p.S2861L|NBEA_uc010abi.3_Missense_Mutation_p.S1522L|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.S657L|NBEA_uc001uvd.3_Missense_Mutation_p.S442L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2864						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATCAATGATTCAACACGGGTA	0.373000														113			39		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127898	72127898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:72127898C>T	uc003xyu.3	-	14	2066	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	EYA1_uc003xyt.4_Missense_Mutation_p.D443N|EYA1_uc003xyr.4_Missense_Mutation_p.D441N|EYA1_uc010lzf.3_Missense_Mutation_p.D403N|EYA1_uc003xys.4_Missense_Mutation_p.D476N|EYA1_uc011lfe.2_Missense_Mutation_p.D470N|EYA1_uc003xyv.3_Missense_Mutation_p.D354N	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	476					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AACCAGGAGTCGGTCAGGGCT	0.547000														48			50		0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72120625	72120625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:72120625G>A	uc002fca.3	-	3	672	c.361C>T	c.(361-363)Cga>Tga	p.R121*	TXNL4B_uc010cgl.2_Intron|TXNL4B_uc010vmn.2_Nonsense_Mutation_p.R121*|TXNL4B_uc010vmo.2_Nonsense_Mutation_p.R121*	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	Homo sapiens thioredoxin-like 4B (TXNL4B), transcript variant 1, mRNA.	121					RNA splicing|mRNA processing|mitosis	spliceosomal complex		p.R121*(2)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						ATTGCTCCTCGATAGATTACT	0.368000														41			5		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:137928454G>A	uc002tva.1	+	5	1576	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G526R(1)|p.G557R(1)		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)		CCCTGATCATGGAAAATGTGG	0.522000														21			13		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446526	107446526	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:107446526G>A	uc002tdq.3	-	4	1433	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	ST6GAL2_uc002tdr.3_Silent_p.F438F|ST6GAL2_uc002tds.3_Silent_p.F438F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	438					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCTACCAATGAAACCAGAAG	0.348000														100			35		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431523	72431523	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:72431523C>T	uc001xna.4	+	1	538	c.15C>T	c.(13-15)tcC>tcT	p.S5S	RGS6_uc021rvv.1_Intron|RGS6_uc010ttn.2_Silent_p.S5S|RGS6_uc021rvw.1_Silent_p.S5S|RGS6_uc021rvx.1_Silent_p.S5S|RGS6_uc021rvy.1_Silent_p.S5S|RGS6_uc021rvz.1_Silent_p.S5S|RGS6_uc001xmy.4_Silent_p.S5S|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.S5S|RGS6_uc021rwa.1_Silent_p.S5S|RGS6_uc021rwb.1_Silent_p.S5S	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	5					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.G4R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTCAAGGATCCGGGGATCAAA	0.463000														45			29		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9801249	9801249	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:9801249C>T	uc001aqh.3	-	9	2181	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	CLSTN1_uc001aqi.3_Silent_p.V464V|CLSTN1_uc010oag.2_Silent_p.V474V	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	474			V -> A (in dbSNP:rs17853245).		homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ACGTGCCATCCACATAGAGAG	0.542000														50			17		0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119054534	119054534	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:119054534C>T	uc004ese.3	+	6	696	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AKAP14_uc004esf.3_Silent_p.F126F	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	186						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AATATAGTTTCATGGAGTCAT	0.353000														43			16		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274469	74274469	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:74274469G>A	uc003hgs.4	+	3	502	c.429G>A	c.(427-429)gaG>gaA	p.E143E	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.E33E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	143	Albumin 1.		E -> K (in Nagoya).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAGACCAGAGGTTGATGTGA	0.383000														47			19		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611986	17611986	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:17611986G>A	uc003wxv.3	-	1	1805	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P444L|MTUS1_uc010lsz.3_Missense_Mutation_p.P444L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	444						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGCTTCAATCGGTGAAACAGA	0.448000														141			45		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396990	71396990	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:71396990G>A	uc003hfk.1	+	7	681	c.592G>A	c.(592-594)Gag>Aag	p.E198K	AMTN_uc010ihy.1_Missense_Mutation_p.E197K	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	198					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		p.I197I(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ACATGCCATCGAGGAAGCCAC	0.517000														34			9		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13121775	13121775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:13121775G>A	uc010mia.1	-	36	5251	c.5194C>T	c.(5194-5196)Ccg>Tcg	p.P1732S	MPDZ_uc003zkx.4_5'Flank|MPDZ_uc003zky.4_Missense_Mutation_p.P266S|MPDZ_uc010mib.3_Missense_Mutation_p.P437S|MPDZ_uc010mhx.3_Missense_Mutation_p.P554S|MPDZ_uc011lmm.2_Missense_Mutation_p.P591S|MPDZ_uc003zkz.4_Missense_Mutation_p.P425S|MPDZ_uc010mhz.3_Missense_Mutation_p.P1699S|MPDZ_uc011lmn.2_Missense_Mutation_p.P1699S|MPDZ_uc010mhy.3_Missense_Mutation_p.P1732S|MPDZ_uc003zlb.4_Missense_Mutation_p.P1732S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1732	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTCCCGGCTTCTTCTGC	0.468000														25			20		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978543	38978543	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38978543C>T	uc002hvi.3	-	0	321	c.295G>A	c.(295-297)Gga>Aga	p.G99R	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	99	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AAGATGCCTCCATAACTCCCA	0.572000														92			35		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42605941	42605941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:42605941G>A	uc003bcj.1	-	0	5505	c.5371C>T	c.(5371-5373)Cgc>Tgc	p.R1791C	TCF20_uc003bck.1_Missense_Mutation_p.R1791C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTCCGAGCGGTGGCGCCGC	0.597000														254			48		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830807	61830807	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:61830807C>T	uc001jky.3	-	36	10170	c.9832G>A	c.(9832-9834)Gag>Aag	p.E3278K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3278					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTCAACCTCTTTTTCTGGG	0.463000														76			60		0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613933	27613933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:27613933C>T	uc002hdy.4	-	1	1168	c.1079G>A	c.(1078-1080)aGc>aAc	p.S360N	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	360						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTTAACTTTGCTTGCATAACT	0.413000														113			43		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343052	40343053	+	Missense_Mutation	DNP	GG	AA	AA	rs140891551	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:40343052_40343053GG>AA	uc002hzd.3	-	4	1549_1550	c.1065_1066CC>TT	c.(1063-1068)gaccgc>gaTTgc	p.R356C	GHDC_uc002hzg.2_Missense_Mutation_p.R356C|GHDC_uc010wgg.2_Missense_Mutation_p.R317C|GHDC_uc002hze.4_Missense_Mutation_p.R356C|GHDC_uc002hzf.4_Missense_Mutation_p.R356C	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	356						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGGCTGGCGCGGTCCGTCAGCA	0.658000														68			15		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404102	404102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:404102G>A	uc021qbk.1	+	11	2311	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q	PKP3_uc001lpc.3_Missense_Mutation_p.R746Q	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	746					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGGACTCCGAAAGCTCATC	0.612000														68			37		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835492	247835492	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:247835492C>T	uc001idi.1	-	0	852	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438000														145			27		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020129	56020129	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:56020129C>T	uc010rjd.2	+	0	454	c.454C>T	c.(454-456)Cac>Tac	p.H152Y		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCTTATGATCACTATGTAGC	0.408000														132			59		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	86996214	86996214	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:86996214A>C	uc003dqn.3	-	3	1305	c.941T>G	c.(940-942)cTa>cGa	p.L314R		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	314					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)		TTGATGCTGTAGACCTGGAAC	0.363000														70			7		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64212974	64212974	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:64212974G>A	uc002jfn.4	-	5	775	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	239	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCCATCCAGAGAATATCCATC	0.433000														87			42		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507821	1507821	+	Missense_Mutation	SNP	G	A	A	rs145974595		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:1507821G>A	uc002qwr.3	+	13	2574	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.E830K|TPO_uc002qwx.3_Missense_Mutation_p.E773K|TPO_uc002qwu.3_Missense_Mutation_p.E773K|TPO_uc010yio.2_Missense_Mutation_p.E657K|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.	830	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			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)	GGACCCCTACGAGTTAGGAGA	0.562000														44			30		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155005966	155005966	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:155005966C>T	uc001fgm.3	-	0	292	c.212G>A	c.(211-213)gGa>gAa	p.G71E	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	71						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCGAGAGAATCCCATGCCCAG	0.657000														62			80		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032166	213032166	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:213032166G>A	uc001hjt.3	+	0	570	c.372G>A	c.(370-372)caG>caA	p.Q124Q	FLVCR1-AS1_uc001hjr.4_5'Flank|FLVCR1-AS1_uc001hjs.4_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	124					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		ACGCCTTTCAGTGGATCCAGT	0.612000														34			20		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112646400	112646400	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:112646400G>A	uc021reb.1	-	50	7896	c.7500C>T	c.(7498-7500)gtC>gtT	p.V2500V	C12orf51_uc001ttr.1_Silent_p.V387V	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGCTGAGCTCGACTTTATAAT	0.453000														46			21		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584309	7584309	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:7584309C>T	uc003mxp.1	+	23	7093	c.6814C>T	c.(6814-6816)Ctt>Ttt	p.L2272F	DSP_uc003mxq.1_Missense_Mutation_p.L1673F|DSP_uc021yle.1_Missense_Mutation_p.L1829F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2272	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAACAGAAGCTTGGCATTTA	0.468000														68			39		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158549154	158549154	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:158549154G>A	uc003qrc.2	-	9	1143	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	SERAC1_uc003qrb.2_Missense_Mutation_p.S62F	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	334					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCGAACTATAGAAGAATGAAG	0.358000														54			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720260	140720260	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140720260C>T	uc003ljk.2	+	0	1907	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.G574G	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	576	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G574G(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACTGGCGTGGAGCTGG	0.627000														236			35		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637533	142637533	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:142637533G>A	uc003wca.2	+	1	344	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	76						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AAGAAGACCAGTCGTCCAAGA	0.542000														108			33		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578242	124578242	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:124578242G>A	uc003eho.3	-	2	505	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	70	PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTTTTGACAAGGTTTGCCCTC	0.587000														71			19		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131206240	131206240	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:131206240C>T	uc003qch.2	-	11	2011	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc010kfl.2_Missense_Mutation_p.G610E|EPB41L2_uc003qcg.1_Missense_Mutation_p.G610E|EPB41L2_uc003qci.3_Missense_Mutation_p.G610E|EPB41L2_uc011eby.2_Missense_Mutation_p.G610E|EPB41L2_uc010kfk.2_Missense_Mutation_p.G610E	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	610	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCATACCTTTCCTTCAATGAG	0.408000											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			52		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367371	107367371	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:107367371C>T	uc011lvq.2	-	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAATTTCACAGGTGAAA	0.418000														132			24		0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18499390	18499390	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:18499390G>A	uc002niv.2	+	1	604	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	191					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GCCGCCAGGGGGCGCCGCAGA	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			5		0	0	1	0	0
ASCC1	51008	broad.mit.edu	37	10	73956612	73956612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:73956612C>T	uc001jst.2	-	5	798	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jsr.2_Missense_Mutation_p.G64E|ASCC1_uc001jss.2_Missense_Mutation_p.G149E|ASCC1_uc021pso.1_Missense_Mutation_p.G149E|ASCC1_uc001jsu.2_Missense_Mutation_p.G149E|ASCC1_uc010qju.2_Missense_Mutation_p.G170E	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCTCAGGAATCCTTCCTGAAC	0.408000														13			17		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765452	124765453	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:124765452_124765453GG>AA	uc001qbg.3	-	5	1076_1077	c.936_937CC>TT	c.(934-939)ggcctc>ggTTtc	p.L313F	ROBO4_uc010sas.2_Missense_Mutation_p.L168F|ROBO4_uc001qbh.2_Missense_Mutation_p.L203F|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	313	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCCAGTGGAGGCCTCCAAGCT	0.653000														36			22		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729389	62729389	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:62729389C>T	uc002yic.3	+	3	887	c.468C>T	c.(466-468)atC>atT	p.I156I	OPRL1_uc002yid.3_Silent_p.I156I|OPRL1_uc021wgs.1_Silent_p.I156I|OPRL1_uc002yif.4_Silent_p.I151I	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	156					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCACCCCATCCGTGCCCTCG	0.572000														94			46		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384738	108384738	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:108384738G>A	uc001pkk.3	-	5	1607	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	EXPH5_uc010rvz.2_Missense_Mutation_p.S343L|EXPH5_uc010rvy.2_Missense_Mutation_p.S311L	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	499					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGAACTGAATGATTTCCTGCT	0.423000														46			25		0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44524593	44524593	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:44524593G>A	uc003tkz.3	-	1	669	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	161										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GTTCCCTAGGGACTTCAGCAG	0.498000														36			11		0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96036835	96036835	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:96036835G>A	uc003htm.4	+	6	521	c.247_splice	c.e6-1	p.D83_splice	BMPR1B_uc010ilb.3_Splice_Site_p.D83_splice|BMPR1B_uc003htn.4_Splice_Site_p.D83_splice	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	83					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTCGATTATAGGACACTCCCA	0.338000														48			20		0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845809	49845809	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:49845809G>A	uc002pnh.3	-	11	1234	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	AK097351_uc002pnb.1_5'Flank|TEAD2_uc002png.3_Silent_p.Y375Y|TEAD2_uc002pni.3_Silent_p.Y375Y|TEAD2_uc002pnj.3_Silent_p.Y372Y|TEAD2_uc010yao.2_Silent_p.Y244Y|TEAD2_uc010emw.3_Silent_p.Y375Y	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	372	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GCAGCAGGCGGTACACAAATC	0.582000														46			19		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542749	133542749	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:133542749G>A	uc002ttp.3	-	13	2009	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	545							protein binding	p.C544Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATCTCTAAGGGACAGCTGC	0.562000														104			47		0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065774	2065774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:2065774G>A	uc003geq.2	+	2	829	c.829G>A	c.(829-831)Ggc>Agc	p.G277S		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.	277	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CGTGCTGCCGGGCATGACCCT	0.697000														15			7		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071669	240071669	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:240071669G>A	uc021plc.1	+	0	918	c.918G>A	c.(916-918)agG>agA	p.R306R	CHRM3_uc001hyp.3_Silent_p.R306R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	306					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCAACAGGAGGAAGTATGGCC	0.532000														39			28		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869868	174869868	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:174869868G>A	uc003mcz.3	-	1	1180	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	DRD1_uc021yia.1_Missense_Mutation_p.P79S	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	79					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCCTTCCAGGGCATGACCAGG	0.552000														50			17		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542443	28542443	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:28542443G>A	uc003nlo.3	-	2	2657	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	680					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.S680L(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTGTCTGGTGAAAATGGTGT	0.408000														145			63		0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23002101	23002101	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:23002101C>T	uc003xcz.1	-	6	908	c.816G>A	c.(814-816)gaG>gaA	p.E272E		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	272					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GGGCATTGTCCTCCGCCCCAG	0.587000														46			29		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156879582	156879582	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:156879582G>A	uc001fqj.1	+	11	1567	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	PEAR1_uc001fqk.1_Missense_Mutation_p.G109E	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	484						integral to membrane		p.G484E(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCCACCCGGAACCTGGGGC	0.627000														69			17		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670677	55670677	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55670677G>T	uc002qjl.1	-	11	1582	c.1580C>A	c.(1579-1581)tCa>tAa	p.S527*	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Nonsense_Mutation_p.S275*|DNAAF3_uc002qji.1_Nonsense_Mutation_p.S460*|DNAAF3_uc002qjj.1_Nonsense_Mutation_p.S507*|DNAAF3_uc002qjk.1_Nonsense_Mutation_p.S406*	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	460																	GCCCAGAGCTGATTCCTGGGA	0.622000														32			11		3.86212e-05	3.91204e-05	1	1	0
WRAP53	55135	broad.mit.edu	37	17	7605013	7605013	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7605013G>A	uc010vuh.2	+	6	1016	c.861G>A	c.(859-861)ccG>ccA	p.P287P	WRAP53_uc010vui.2_Silent_p.P287P|WRAP53_uc002gip.3_Silent_p.P287P|WRAP53_uc002gir.3_Silent_p.P287P|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.P254P|WRAP53_uc010vuj.2_Silent_p.P68P	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	287					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCTTCTCCCCGGATGGCTCCC	0.602000														60			23		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905675	2905675	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:2905675G>A	uc002cry.1	-	3	525	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	153	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CCCGCTCTGAGAACTGTATGG	0.602000														62			20		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031966	33031966	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:33031966C>T	uc001rlj.4	-	2	339	c.224_splice	c.e2-1	p.G75_splice	PKP2_uc001rlk.4_Splice_Site_p.G75_splice|PKP2_uc010skj.2_Splice_Site_p.G75_splice	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	75					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGAAGATTTCCTGCAATCAA	0.333000														36			6		0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220111842	220111842	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:220111842C>G	uc002vko.2	+	3	471	c.314C>G	c.(313-315)aCg>aGg	p.T105R	GLB1L_uc002vkm.3_5'Flank|GLB1L_uc002vkn.3_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.2_Missense_Mutation_p.T105R|STK16_uc010fwf.3_Missense_Mutation_p.T105R|STK16_uc002vkp.2_Missense_Mutation_p.T105R	NM_001008910	NP_001008910	O75716	STK16_HUMAN	Homo sapiens serine/threonine kinase 16 (STK16), transcript variant 1, mRNA.	105	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGAGGTACGCTGTGGAAT	0.517000														27			19		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860722	45860722	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:45860722C>T	uc010gpt.1	+	31	4570	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	TRPM2_uc002zet.1_Silent_p.I1440I|TRPM2_uc002zeu.1_Silent_p.I1440I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1440I|TRPM2_uc002zex.1_Silent_p.I1226I|TRPM2_uc002zey.1_Silent_p.I919I|TRPM2_uc011aff.1_Silent_p.I121I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1440	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATGCCTGGATCGAGACGGTGG	0.617000														95			43		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922683	150922683	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:150922683G>A	uc003lue.4	-	8	8018	c.8005C>T	c.(8005-8007)Cct>Tct	p.P2669S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2669	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCAGTGAGGAGGGCCTCCA	0.463000														91			7		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123471262	123471262	+	Missense_Mutation	SNP	G	A	A	rs111422191		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:123471262G>A	uc003ego.3	-	4	571	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	MYLK_uc011bjw.2_Missense_Mutation_p.H97Y|MYLK_uc003egp.3_Missense_Mutation_p.H97Y|MYLK_uc003egq.3_Missense_Mutation_p.H97Y|MYLK_uc003egr.3_Missense_Mutation_p.H97Y|MYLK_uc003egs.3_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.H97Y|MYLK_uc003egu.1_Missense_Mutation_p.H107Y	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTCCTCATGGACAGCATGA	0.587000														66			38		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891655	18891655	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:18891655G>A	uc001rdy.3	+	0	611	c.453G>A	c.(451-453)ttG>ttA	p.L151L	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	151					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGGAGTACTTGATAGCTTGCA	0.388000														65			10		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46944857	46944857	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:46944857C>T	uc003cqm.3	+	15	1696	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	PTH1R_uc021wxg.1_Missense_Mutation_p.P498L	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	498						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						AGCTACGGCCCCATGGTGTCC	0.622000														34			10		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149245817	149245817	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:149245817C>T	uc003lrg.4	-	20	2395	c.2275_splice	c.e20-1	p.P759_splice	PDE6A_uc021yfs.1_Splice_Site_p.P678_splice	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	759					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCATCATGGGCTGTCATGGGG	0.428000														63			5		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263892	111263893	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:111263892_111263893GG>AA	uc003dxw.3	+	2	232	c.62_splice	c.e2-1	p.G21_splice	CD96_uc003dxv.3_Splice_Site_p.G21_splice|CD96_uc003dxx.3_Splice_Site_p.G21_splice|CD96_uc010hpy.1_Splice_Site_p.G21_splice	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	21					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTTCTTTTCAGGAGTTTGGGAA	0.406000									Opitz Trigonocephaly syndrome					102			36		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:121980842C>T	uc003eew.4	+	3	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_uc003eev.4_Silent_p.F320F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	320					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577000														50			20		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294555	29294555	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:29294555G>A	uc002rmt.2	-	0	2573	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	858					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCTTGGGGGAGTTCTCTGT	0.607000														85			25		0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9843463	9843464	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:9843463_9843464GG>AA	uc002gmg.1	-	7	946_947	c.785_786CC>TT	c.(784-786)tcc>tTT	p.S262F	GAS7_uc010vvc.1_Missense_Mutation_p.S76F|GAS7_uc002gmh.1_Missense_Mutation_p.S122F|GAS7_uc010vvd.1_Missense_Mutation_p.S214F|GAS7_uc002gmi.2_Missense_Mutation_p.S198F|GAS7_uc002gmj.1_Missense_Mutation_p.S202F|GAS7_uc010coh.1_Missense_Mutation_p.S202F	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	262	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTGAAGCCAAGGAGTTCTGAGA	0.505000			T	MLL	AML*									141			74		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922177	24922177	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:24922177C>T	uc001ywo.3	+	0	1637	c.1163C>T	c.(1162-1164)aCc>aTc	p.T388I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	388	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.E387D(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAAACAGAGACCATGACAAAC	0.527000														38			28		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374683	39374683	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:39374683C>T	uc010hhr.2	+	1	999	c.861C>T	c.(859-861)atC>atT	p.I287I	CCR8_uc003cjm.2_Silent_p.I204I|CCR8_uc021wwe.1_Silent_p.I287I	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	287					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.I287I(2)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCACAGAAATCATTTCCTTTA	0.428000														47			11		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71410883	71410883	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:71410883G>A	uc010dfm.3	-	17	2384	c.2384C>T	c.(2383-2385)cCg>cTg	p.P795L	SDK2_uc010dfn.2_Missense_Mutation_p.P474L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	795	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACATTGCCCGGAGGGACCGT	0.612000														56			6		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40976884	40976884	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:40976884C>T	uc003jmh.3	+	15	2221	c.2107C>T	c.(2107-2109)Cag>Tag	p.Q703*	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	703	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCCTAAATGTCAGCGCTGGGA	0.388000														10			10		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217822300	217822300	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:217822300C>T	uc001hlh.1	+	1	171	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	49	IQ 1.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATGTCAAGTTCGGGCATATAT	0.308000														42			20		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143749	56143749	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:56143749C>T	uc001nit.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GTCTTTGTCTCCTACATGTTC	0.488000														84			28		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283227	52283227	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:52283227G>A	uc001rzd.3	+	3	776	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.G65R|ANKRD33_uc001rze.3_Missense_Mutation_p.G65R|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_Missense_Mutation_p.G65R	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	65										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGACCAGCGGGGGCTCACGGC	0.657000														35			15		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123907182	123907182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:123907182G>A	uc004bkx.1	+	18	3144	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	CNTRL_uc004bky.1_Missense_Mutation_p.R642Q|CNTRL_uc004bla.1_Missense_Mutation_p.R486Q|CNTRL_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1038					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GATCTCACCCGAGCAGAAGCT	0.527000														82			24		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151023931	151023931	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:151023931C>T	uc003ilo.4	+	1	1477	c.723C>T	c.(721-723)gtC>gtT	p.V241V	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.V241V|DCLK2_uc003iln.4_Silent_p.V241V	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	241	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTCAGGAGTCGTCAAGAGGC	0.463000														45			10		0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179323290	179323291	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179323290_179323291CC>TT	uc002umi.4	+	4	959_960	c.603_604CC>TT	c.(601-606)ttccca>ttTTca	p.P202S	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.P202S	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	202					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTATTGTTTTCCCAGCACATAC	0.342000														86			26		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54624244	54624244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:54624244G>A	uc021smr.1	+	12	4423	c.4423G>A	c.(4423-4425)Gaa>Aaa	p.E1475K	UNC13C_uc021sms.1_Missense_Mutation_p.E1477K|UNC13C_uc002acl.3_Missense_Mutation_p.E307K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1477					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTACAGAGGGAAAAATTCAT	0.318000														0			2		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456969	25456969	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:25456969C>T	uc002wux.1	-	16	3032	c.2958G>A	c.(2956-2958)tgG>tgA	p.W986*	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	986					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGCCCCTGCTCCAGCTTCGTG	0.692000														65			33		0	0	1	0	0
PIN4	5303	broad.mit.edu	37	X	71417227	71417227	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:71417227G>T	uc004eam.3	+	3	357	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	PIN4_uc004eao.2_Intron|PIN4_uc022byu.1_Non-coding_Transcript	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN	Homo sapiens protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) (PIN4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83	PpiC.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle	DNA binding|bent DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity			large_intestine(1)|lung(2)	3	Renal(35;0.156)					GGGTGACTTGGGTTGGATGAC	0.468000														27			7		1.06961e-07	1.08984e-07	1	1	0
SLC9A7	84679	broad.mit.edu	37	X	46466593	46466593	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:46466593C>T	uc004dgu.1	-	16	1980	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	658					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGTCGCCTTCGGTCAGGATG	0.517000														36			14		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138426007	138426007	+	Silent	SNP	G	A	A	rs61755418		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:138426007G>A	uc011bmq.2	-	8	1524	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	PIK3CB_uc011bmn.2_Silent_p.F37F|PIK3CB_uc011bmo.2_Intron|PIK3CB_uc011bmp.2_Silent_p.F112F	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	508					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P507S(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTACCTTATCGAAGGGAGGGT	0.328000														50			18		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161123	132161123	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:132161123G>A	uc011mvf.2	-	0	1178	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	USP26_uc010nrm.1_Missense_Mutation_p.H376Y	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	376					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)					GCATTGCCATGGAATATCTCT	0.363000														153			22		0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69489535	69489535	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:69489535A>T	uc004dyb.2	+	2	100	c.32A>T	c.(31-33)aAt>aTt	p.N11I	ARR3_uc004dya.3_Missense_Mutation_p.N11I	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	11					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACCAGCTCCAATGGGAAGGTG	0.527000														17			6		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205636	36205636	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:36205636G>A	uc002oay.3	+	1	318	c.108G>A	c.(106-108)ggG>ggA	p.G36G	ZBTB32_uc002oaz.3_Non-coding_Transcript	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	36	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACCGTAGGGAGCCAGGAGT	0.642000														71			38		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228758521	228758521	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:228758521G>A	uc002vpn.1	+	4	407	c.328G>A	c.(328-330)Gga>Aga	p.G110R	WDR69_uc010zlw.1_Missense_Mutation_p.G95R|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	110								p.T109I(1)|p.G110V(1)		breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTTTATCACAGGAAGCTATGA	0.443000														37			19		0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99848959	99848959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:99848959C>T	uc004efy.4	+	2	474	c.248C>T	c.(247-249)cCt>cTt	p.P83L	TNMD_uc004efz.2_Missense_Mutation_p.P83L	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	83						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAAATTGATCCTGTGACCAGA	0.408000														85			12		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75102049	75102049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:75102049G>A	uc001dgg.3	-	5	737	c.518C>T	c.(517-519)cCt>cTt	p.P173L	C1orf173_uc001dgi.4_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	173										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTACTGCAGGATTACTGGG	0.418000														242			30		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494303	7494303	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:7494303G>A	uc003bqm.2	+	5	1458	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R395K|GRM7_uc003bql.2_Missense_Mutation_p.R395K|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	395					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGACAGGAGAGAATTGGAAAA	0.418000														37			23		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235414	3235414	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:3235414G>A	uc004crg.4	-	5	6465	c.6308C>T	c.(6307-6309)cCc>cTc	p.P2103L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2103	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTCCCGTTGGGGAAAACAAA	0.677000														21			5		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997885	115997885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:115997885C>T	uc003ibu.3	-	1	987	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	103	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTACTGAAATCGGCTGGACTC	0.408000														53			28		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004063	187004063	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:187004063C>T	uc003iyq.3	+	3	1324	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	TLR3_uc011ckz.2_Missense_Mutation_p.P131L|TLR3_uc003iyr.3_Missense_Mutation_p.P131L	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	408					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|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-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCTCATTCTCCCTTACACATA	0.373000														28			12		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574334	28574334	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:28574334C>T	uc003xgz.1	+	2	1351	c.758C>T	c.(757-759)cCt>cTt	p.P253L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	253						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GTGCTGCGGCCTGCTGAGCTG	0.522000														57			15		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	T	T	rs150965727		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:113518303C>T	uc010ljy.1	-	3	2875	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	948					glycogen metabolic process	integral to membrane		p.T948T(6)|p.T948M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000														77			14		0	0	1	0	0
SAA2-SAA4	100528017	broad.mit.edu	37	11	18267499	18267499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:18267499G>A	uc021qel.1	-	2	264	c.188C>T	c.(187-189)gCc>gTc	p.A63V	SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.A63V|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.A63V	NM_001199744	NP_001186673			Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA.																		TCCCCTTTTGGCAGCATCATA	0.572000														58			7		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872299	189872299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:189872299G>A	uc002uqj.1	+	44	3446	c.3329G>A	c.(3328-3330)gGa>gAa	p.G1110E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1110	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGACATCGAGGATTCCCTGGT	0.428000														15			5		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878833	5878833	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:5878833C>T	uc010qzr.2	-	0	100	c.100G>A	c.(100-102)Gga>Aga	p.G34R	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGGACTCCAATCCAAATG	0.458000														70			51		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58496393	58496393	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:58496393A>G	uc002yaz.3	-	2	279	c.140T>C	c.(139-141)tTc>tCc	p.F47S	SYCP2_uc010gju.1_5'Flank	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	47					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CACCTTGTGGAAAAACTGTTT	0.303000														11			9		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598265	81598265	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:81598265G>A	uc003uhr.1	-	28	2589	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	790						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAATGCCCGATTCATAGGC	0.279000														120			18		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90745472	90745472	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:90745472G>A	uc001xyi.2	-	12	3536	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	C14orf102_uc010atp.1_Silent_p.S606S|C14orf102_uc001xyj.2_Silent_p.S870S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	1101							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TATTTCCTAAGGAAACCTGAG	0.468000														146			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069347	9069347	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9069347G>A	uc002mkp.3	-	2	18303	c.18099C>T	c.(18097-18099)tcC>tcT	p.S6033S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6035	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						CGGATGGCTGGGAGTGGATTG	0.438000														123			39		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174417	67174417	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:67174417C>T	uc001ola.3	+	7	797	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	256	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCGAGTGGTTCCTGTGCCTCT	0.682000														181			53		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31625434	31625434	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:31625434C>T	uc010zuc.2	+	7	736	c.736C>T	c.(736-738)Cct>Tct	p.P246S	BPIFB6_uc010zud.2_Missense_Mutation_p.P185S	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	246						extracellular region	lipid binding										CCTCACGTTCCCTGAGGGTTA	0.577000														74			27		0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457974	20457974	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:20457974C>A	uc002zsd.4	-	0	3813	c.3328G>T	c.(3328-3330)Gtg>Ttg	p.V1110L	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)			TCAATGGTCACAGGGAGCCAG	0.602000														52			6		2.5808e-16	2.65471e-16	1	1	0
ASB14	142686	broad.mit.edu	37	3	57310699	57310699	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:57310699C>T	uc021wzs.1	-	8	1714	c.1643G>A	c.(1642-1644)cGg>cAg	p.R548Q	ASB14_uc003dip.1_Missense_Mutation_p.R263Q|ASB14_uc003diq.3_Missense_Mutation_p.R384Q	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 14 (ASB14), transcript variant 1, mRNA.	548	SOCS box.				intracellular signal transduction					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAAATGTAACCGTCCCATGCA	0.408000														43			18		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805253	7805253	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:7805253C>T	uc001qtb.3	-	2	257	c.223G>A	c.(223-225)Gat>Aat	p.D75N	APOBEC1_uc001qtc.3_Missense_Mutation_p.D30N	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	75					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding	p.R74T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGGTGAAAATCTCTTTCTGAC	0.478000														26			11		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044242	119044242	+	Missense_Mutation	SNP	G	A	A	rs144665491	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:119044242G>A	uc001lde.1	-	4	2201	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	668					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCTTAGTAGGGCAGGAAGTT	0.428000														61			6		0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99157137	99157137	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:99157137G>A	uc004awf.3	-	2	1014	c.659C>T	c.(658-660)aCc>aTc	p.T220I	ZNF367_uc004awg.3_Missense_Mutation_p.T220I	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	220					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TTTCTCTCCGGTGTGAAGACG	0.398000														34			14		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750003	30750003	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:30750003C>T	uc002dze.1	+	33	9027	c.8642C>T	c.(8641-8643)cCc>cTc	p.P2881L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2676L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2881	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGCACCCTCATCCACC	0.582000														41			15		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431339	69431339	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:69431339A>G	uc021xov.1	-	1	867	c.824T>C	c.(823-825)gTt>gCt	p.V275A		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	275					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACAAAATCAACATTTGGTAA	0.403000														113			54		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966697	25966697	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:25966697C>T	uc002rgs.2	-	11	2730	c.2509G>A	c.(2509-2511)Ggt>Agt	p.G837S	ASXL2_uc002rgt.1_Splice_Site_p.G577_splice	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCAGGACCTGTTGGAGAA	0.517000														171			49		0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440152	135440152	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:135440152T>C	uc010qvg.2	-	0	148	c.95A>G	c.(94-96)aAg>aGg	p.K32R		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	32						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATCTGAGCCCTTTTCTGTAAA	0.502000														102			6		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22362919	22362919	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22362919G>A	uc021rpj.1	+	1	221	c.50G>A	c.(49-51)gGa>gAa	p.G17E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		GTTGCAGGAGGAACCAGAGCC	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			13		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325344	9325344	+	Missense_Mutation	SNP	G	A	A	rs149523827		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9325344G>A	uc002mla.2	-	0	204	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GTACATGGGGGTGTGGAGGTG	0.557000														79			48		0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109840	20109840	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:20109840G>A	uc003ncx.1	-	11	1555	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	MBOAT1_uc011dji.1_Silent_p.I301I	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	450			I -> V (in dbSNP:rs2065649).		phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGTATAAGCTGATGGTCGGTT	0.468000														116			10		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872803	130872803	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:130872803C>T	uc010fmh.2	-	3	1020	c.620G>A	c.(619-621)aGg>aAg	p.R207K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	207						cell cortex	ATP binding	p.K206R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGAGCTGTCCTCTTTTTGTT	0.398000														76			8		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572424	169572424	+	Silent	SNP	G	A	A	rs145585796		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:169572424G>A	uc001ggi.4	-	9	1610	c.1545C>T	c.(1543-1545)agC>agT	p.S515S	SELP_uc001ggh.3_Silent_p.S350S|SELP_uc009wvr.3_Silent_p.S515S	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	515	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATTCTGAGGGCTTAGCAAAG	0.428000														149			27		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178203	223178203	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:223178203C>T	uc001hnu.2	+	9	3790	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1155					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTGCCTTTTCCCATGCCTTG	0.473000														48			29		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226890	2226890	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:2226890C>T	uc002lvc.1	+	12	3019	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F	DOT1L_uc002lvb.4_Missense_Mutation_p.S1457F	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1457						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGTCCTCCGCCCAGACG	0.766000														12			10		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411442	210411442	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:210411442C>T	uc001hhy.3	+	1	316	c.137C>T	c.(136-138)cCt>cTt	p.P46L	SERTAD4_uc009xcw.3_Missense_Mutation_p.P46L	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	46							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GCACAAGCTCCTTTGCAGGGA	0.642000														56			40		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456251	5456251	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:5456251C>A	uc002mca.4	+	0	826	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	250						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCTGTCACCCCGTGCTGACC	0.687000														72			16		2.62699e-14	2.68939e-14	1	1	0
THRB	7068	broad.mit.edu	37	3	24169111	24169111	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:24169111C>T	uc003ccz.4	-	10	1543	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	THRB_uc010hfe.3_Silent_p.L341L|THRB_uc003ccy.4_Silent_p.L341L|THRB_uc003ccx.4_Silent_p.L341L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	341	Interaction with NR2F6.|Ligand-binding.		L -> P (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCCATTTTTCAGCTGGCCCC	0.537000														166			19		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528218	121528218	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:121528218T>A	uc003ypc.1	+	17	2078	c.2033T>A	c.(2032-2034)cTt>cAt	p.L678H		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	678	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTCTGAACTTCAGTCTCGT	0.403000														55			55		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306773	41306773	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:41306773C>T	uc002xkg.3	-	6	1070	c.886G>A	c.(886-888)Gag>Aag	p.E296K	PTPRT_uc010ggj.3_Missense_Mutation_p.E296K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	296	Fibronectin type-III 1.				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)				GCCAGCAGCTCTGGGGGAGCA	0.517000														31			11		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200789	132200790	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:132200789_132200790GG>AA	uc002tst.2	-	0	1678_1679	c.1212_1213CC>TT	c.(1210-1215)ctccgg>ctTTgg	p.R405W						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TTGCACTCCCGGAGGAACGACT	0.634000														14			9		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049603	69049603	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:69049603C>T	uc010fdg.3	+	9	1751	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	ARHGAP25_uc010yql.2_Silent_p.L404L|ARHGAP25_uc002sew.3_Silent_p.L436L|ARHGAP25_uc002sex.3_Silent_p.L437L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L444F(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTCAAACACTCCCTAACCGGA	0.483000														111			50		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1511669	1511669	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:1511669C>T	uc002clv.2	-	2	330	c.220G>A	c.(220-222)Gac>Aac	p.D74N	CLCN7_uc002clw.2_Missense_Mutation_p.D50N	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	74						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGTGGAGGGTCCATATCCTGT	0.567000														20			15		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616546	43616546	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:43616546T>A	uc003bdt.2	-	13	1724	c.1597A>T	c.(1597-1599)Aag>Tag	p.K533*		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	533					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGGCGCCTCTTCTTGGAGGAG	0.582000														182			20		0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211847733	211847733	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:211847733C>T	uc001hir.2	-	1	370	c.219G>A	c.(217-219)cgG>cgA	p.R73R	NEK2_uc021piq.1_Silent_p.R73R|NEK2_uc001his.4_Silent_p.R73R|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	73	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GGTCAATAATCCGATCATAGT	0.408000														33			23		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5286426	5286426	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:5286426G>A	uc002gbm.4	+	17	2721	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	RABEP1_uc010vsw.1_Missense_Mutation_p.E790K|RABEP1_uc002gbl.4_Missense_Mutation_p.E800K|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	833					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGTGCAGTTAGAGCGGATCCG	0.463000														39			19		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66048603	66048603	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:66048603A>T	uc002api.3	-	2	571	c.186T>A	c.(184-186)gaT>gaA	p.D62E	DENND4A_uc002aph.3_Missense_Mutation_p.D62E|DENND4A_uc002apj.3_Missense_Mutation_p.D62E|DENND4A_uc010ujj.1_Missense_Mutation_p.D62E	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	62	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACAGATATAATCCTGTGGGA	0.383000														19			3		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365660	46365660	+	Missense_Mutation	SNP	G	A	A	rs116489181	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:46365660G>A	uc002xto.3	-	2	532	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	SULF2_uc002xtr.3_Missense_Mutation_p.R68W|SULF2_uc002xtq.3_Missense_Mutation_p.R68W|SULF2_uc010ghv.1_Missense_Mutation_p.R68W	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	68					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGATGCGCCGGGTCTTGTTC	0.637000														56			25		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405404	47405405	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:47405404_47405405CC>TT	uc002leb.2	-	23	3474_3475	c.3186_3187GG>AA	c.(3184-3189)gaggag>gaAAag	p.E1063K	MYO5B_uc002lea.2_Missense_Mutation_p.E204K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1063					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGGGATCGCTCCTCCTCCAGTT	0.470000														39			29		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237272523	237272523	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:237272523G>A	uc002vwb.2	-	14	1827	c.1793C>T	c.(1792-1794)aCc>aTc	p.T598I	IQCA1_uc002vvz.1_Missense_Mutation_p.T590I|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.T549I	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	590							ATP binding	p.T598T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCCGTTTCGGTGCAGATGGC	0.517000														70			31		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910085	57910085	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:57910085C>T	uc002qon.3	+	3	716	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	ZNF548_uc002qom.3_Missense_Mutation_p.H144Y|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGAAGAACCACAGAGTTCA	0.488000														62			18		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914872	61914872	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:61914872G>A	uc010deb.1	-	1	647	c.330C>T	c.(328-330)acC>acT	p.T110T	SMARCD2_uc010wpt.1_Silent_p.T62T|SMARCD2_uc010dea.1_Silent_p.T35T	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	110	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GATCCATCATGGTGGGTGGCA	0.647000														116			6		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955511	215955511	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:215955511C>T	uc001hku.1	-	53	11000	c.10613G>A	c.(10612-10614)cGa>cAa	p.R3538Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3538	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTCCATTTCGAAGAAGGAT	0.348000										HNSCC(13;0.011)				40			5		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12638571	12638571	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:12638571G>A	uc002mty.3	-	3	561	c.351C>T	c.(349-351)tcC>tcT	p.S117S	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCCTACTAAGGGATGAATGAT	0.383000														65			25		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9351884	9351884	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:9351884G>A	uc021wam.1	+	6	542	c.527G>A	c.(526-528)gGa>gAa	p.G176E	PLCB4_uc010gbw.1_Missense_Mutation_p.G176E|PLCB4_uc010gbx.3_Missense_Mutation_p.G176E|PLCB4_uc021wal.1_Missense_Mutation_p.G176E|PLCB4_uc002wnh.3_Missense_Mutation_p.G23E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	176					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.G176E(2)|p.S175S(1)		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						TTTGCATCGGGAAAAACAGAA	0.353000														93			24		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32097668	32097668	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:32097668G>A	uc003alp.4	-	6	6274	c.6081C>T	c.(6079-6081)acC>acT	p.T2027T	PRR14L_uc003alo.2_Silent_p.T1826T|PRR14L_uc010gwj.1_Intron	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	2027										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGCCCATGGGGGTAAGATTAG	0.423000														17			27		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223165399	223165399	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:223165399A>G	uc001hnu.2	+	7	1162	c.836A>G	c.(835-837)aAa>aGa	p.K279R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	279					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAAAGAGAGAAAAGAGAAGTT	0.403000														40			5		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100116928	100116928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:100116928G>A	uc011lut.2	+	36	4635	c.3629G>A	c.(3628-3630)cGg>cAg	p.R1210Q	C9orf174_uc004axe.2_Missense_Mutation_p.R1042Q|C9orf174_uc011lus.2_Missense_Mutation_p.R860Q|C9orf174_uc004axg.2_Missense_Mutation_p.R1071Q|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1201						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GAAGCTGCCCGGATAGAGTTG	0.483000														66			30		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741442	48741442	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:48741442G>A	uc002isl.3	+	9	1388	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	ABCC3_uc002isk.4_Silent_p.Q436Q|ABCC3_uc002ism.3_Missense_Mutation_p.D149N	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	436	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CACCCCTGCAGATCATCCTGG	0.557000														95			48		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121441	62121441	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:62121441G>A	uc002jdz.2	-	21	2954	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A	DQ572107_uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	947	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAGCTCCATGGCCCGGTAGG	0.657000														72			31		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216833	78216833	+	Silent	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:78216833C>A	uc022bzl.1	+	0	816	c.816C>A	c.(814-816)acC>acA	p.T272T	P2RY10_uc004ede.3_Silent_p.T272T|P2RY10_uc004edf.3_Silent_p.T272T	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	272						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TAAAGGAAACCATCATTAGCA	0.428000														252			45		5.20006e-24	5.3811e-24	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32632525	32632525	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:32632525G>A	uc003zrg.1	-	0	3143	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1018					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTTTTCAGGGAAAGGCGACG	0.458000														131			107		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198274577	198274577	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:198274577G>A	uc002uue.3	-	6	869	c.821C>T	c.(820-822)cCa>cTa	p.P274L		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	274	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCATGGCCTGGTGTATCACC	0.547000			Mis		myelodysplastic syndrome									175			79		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995620	140995620	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140995620C>T	uc004fbt.3	+	3	2754	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L469L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	810							protein binding	p.P809A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTCCTCTCCAGAGTCCTG	0.552000										HNSCC(15;0.026)				317			120		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169951956	169951956	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:169951956A>T	uc001ggv.3	-	13	1830	c.1559T>A	c.(1558-1560)tTt>tAt	p.F520Y	KIFAP3_uc021pep.1_Missense_Mutation_p.F480Y|KIFAP3_uc010ply.2_Missense_Mutation_p.F442Y|KIFAP3_uc001ggw.2_Missense_Mutation_p.F476Y|KIFAP3_uc010plx.2_Missense_Mutation_p.F222Y	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	520					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAATCACAAACTCCTCTTC	0.323000														59			73		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589591	140589591	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140589591G>A	uc003liz.3	+	0	1301	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	PCDHB12_uc011dak.2_Missense_Mutation_p.R34Q	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	371	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R371Q(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGATACGAGACAGAGAC	0.433000														82			19		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064434	78064435	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:78064434_78064435CC>TT	uc002ffh.4	+	2	371_372	c.290_291CC>TT	c.(289-291)tcc>tTT	p.S97F	CLEC3A_uc021tlr.1_Missense_Mutation_p.S45F	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTGCATTTCCAAAGGAGGAA	0.475000														56			15		0	0	1	0	0
C8orf73	642475	broad.mit.edu	37	8	144650795	144650795	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:144650795A>T	uc010mff.3	-	9	1615	c.1571T>A	c.(1570-1572)cTg>cAg	p.L524Q	C8orf73_uc010mfg.1_Silent_p.P536P	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA.	524	Leu-rich.						binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGCTTCCGCAgggggccgcg	0.736000														2			2		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101707749	101707749	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:101707749G>A	uc001vox.1	-	43	5304	c.5115C>T	c.(5113-5115)ccC>ccT	p.P1705P		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1705						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGTCAGTCATGGGGTTCATTT	0.502000														132			30		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328601	152328601	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152328601G>A	uc001ezw.4	-	2	1734	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	554	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATAGCCAGATGATTGACT	0.498000														642			146		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295927	120295927	+	Nonsense_Mutation	SNP	G	A	A	rs137852637		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:120295927G>A	uc001eid.3	-	6	1358	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HMGCS2_uc010oxj.2_Nonsense_Mutation_p.R382*|HMGCS2_uc021osw.1_Nonsense_Mutation_p.R190*	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	424					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R424L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGGATACTCGAAATGAAAAG	0.478000														15			14		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409736	111409736	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:111409736G>A	uc003iab.4	+	1	1026	c.684G>A	c.(682-684)agG>agA	p.R228R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	228					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGATGCCAGGAAATCTTTTC	0.423000														31			10		0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581330	99581330	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:99581330G>A	uc004awp.1	-	5	1256	c.975C>T	c.(973-975)ctC>ctT	p.L325L	ZNF782_uc011lup.1_Silent_p.L193L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGCACTGGGAGGGTTGAAT	0.398000														96			42		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40937767	40937767	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:40937767G>A	uc003jmh.3	+	5	656	c.542G>A	c.(541-543)gGa>gAa	p.G181E	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	181	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGCTGAGTGGAAATGTCCTG	0.378000														18			4		0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146575266	146575266	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:146575266C>A	uc003ikh.4	+	5	1025	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	314						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAATTACTCCGCAAACGTTC	0.428000														109			45		2.00842e-17	2.07088e-17	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10370631	10370631	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:10370631G>A	uc003bvt.3	-	22	4038	c.3599C>T	c.(3598-3600)tCg>tTg	p.S1200L	ATP2B2_uc003bvv.3_Missense_Mutation_p.S1155L|ATP2B2_uc003bvw.3_Missense_Mutation_p.S1155L|ATP2B2_uc003bvs.3_Non-coding_Transcript|ATP2B2_uc010hdo.3_Missense_Mutation_p.S905L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1200					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCGGGCTCGAGTTCTGCTT	0.552000														57			22		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036430	39036430	+	Silent	SNP	G	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:39036430G>T	uc002hvl.3	-	3	772	c.714C>A	c.(712-714)atC>atA	p.I238I		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	238	Linker 12.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTTCATTCATGATGACGCCAA	0.463000														129			12		6.40141e-05	6.46138e-05	1	1	0
DNASE1L3	1776	broad.mit.edu	37	3	58196588	58196588	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:58196588G>A	uc003djo.1	-	0	143	c.46C>T	c.(46-48)Cac>Tac	p.H16Y	DNASE1L3_uc011bfd.1_Missense_Mutation_p.H16Y|DNASE1L3_uc003djp.1_Missense_Mutation_p.H16Y|DNASE1L3_uc003djq.1_Missense_Mutation_p.H16Y	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	16					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.H16Y(2)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		AGGGCGCTGTGGATGGAGAGG	0.567000														77			43		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456735	48456735	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:48456735G>A	uc003csw.2	-	19	4086	c.3816C>T	c.(3814-3816)gtC>gtT	p.V1272V	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Silent_p.V1089V|PLXNB1_uc003csx.2_Silent_p.V1272V|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'UTR	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1272	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGCCACGGACGCATATCT	0.587000														27			13		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949143	37949143	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:37949143C>T	uc002hsu.3	-	3	269	c.207G>A	c.(205-207)gaG>gaA	p.E69E	IKZF3_uc002htd.3_Silent_p.E35E|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.E35E|IKZF3_uc010cwe.3_Silent_p.E69E|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.E69E|IKZF3_uc002hsx.3_Silent_p.E69E|IKZF3_uc002hsy.3_Silent_p.E69E|IKZF3_uc002hsz.3_Silent_p.E69E|IKZF3_uc002hta.3_Silent_p.E69E|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	69					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTAAAACATTCTCATCTCTTT	0.348000														50			24		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737001	4737001	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:4737001G>A	uc001qnb.4	-	3	1311	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	356					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTTCACAGCCGAGACAAACTG	0.473000														60			23		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236440	33236440	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:33236440C>T	uc001bvu.1	+	5	1704	c.1660C>T	c.(1660-1662)Cca>Tca	p.P554S	KIAA1522_uc010ohm.1_Missense_Mutation_p.P506S|KIAA1522_uc001bvv.2_Missense_Mutation_p.P495S|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	495	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCACCCAACCCAGCCAACAG	0.677000														15			3		0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20979418	20979419	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:20979418_20979419GG>AA	uc001bdo.1	-	8	1182_1183	c.1039_1040CC>TT	c.(1039-1041)ccc>TTc	p.P347F	DDOST_uc010odd.1_Missense_Mutation_p.P146F|DDOST_uc010ode.1_Missense_Mutation_p.P310F	NM_005216	NP_005207	P39656	OST48_HUMAN	Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA.	347					T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCATCAAAGGGGACCCATTTG	0.515000														45			30		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220586	118220586	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:118220586G>A	uc004era.4	-	10	4607	c.4607C>T	c.(4606-4608)tCt>tTt	p.S1536F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1536										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGCAACGTAAGATATTTTGGT	0.512000														48			36		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514565	161514565	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:161514565C>T	uc001gar.3	-	3	795	c.611G>A	c.(610-612)gGc>gAc	p.G204D	FCGR3A_uc001gas.3_Missense_Mutation_p.G203D|FCGR3A_uc001gat.4_Missense_Mutation_p.G168D|FCGR3A_uc009wuh.3_Missense_Mutation_p.G167D|FCGR3A_uc009wui.3_Missense_Mutation_p.G168D	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	168					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAGTAGGAGCCGCTGTCTTT	0.448000														80			62		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18971692	18971692	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:18971692G>A	uc002nkg.3	+	16	2666	c.2391G>A	c.(2389-2391)aaG>aaA	p.K797K	UPF1_uc002nkf.3_Silent_p.K786K|UPF1_uc002nkh.3_Silent_p.K41K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	797					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGGCGCCAAGCCGGACCAGA	0.607000														11			8		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139311	178139311	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:178139311C>T	uc003mjj.3	-	4	1766	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	523					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTCCTCACATCGATATGGTTT	0.388000														105			28		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9516192	9516192	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:9516192G>A	uc003brt.3	+	20	3992	c.3557G>A	c.(3556-3558)cGa>cAa	p.R1186Q	SETD5_uc003bru.3_Missense_Mutation_p.R1088Q|SETD5_uc003brv.3_Missense_Mutation_p.R1075Q|SETD5_uc010hck.3_Missense_Mutation_p.R668Q|SETD5_uc003brx.3_Missense_Mutation_p.R855Q	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1186	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAGGTCCTCCGAAGCAGCGTG	0.562000														90			37		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419615	30419615	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:30419615G>A	uc002wwq.2	+	10	1636	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	MYLK2_uc002wws.2_Missense_Mutation_p.E129K|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	512	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.E512K(2)|p.D511D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGTATCAGACGAGGCCAAAGA	0.512000														66			28		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502327	20502327	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20502327G>A	uc010tkz.2	-	0	591	c.591C>T	c.(589-591)ctC>ctT	p.L197L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAATGACCAGGAGCTGTAGGA	0.483000														69			16		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461835	79461835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:79461835G>A	uc003hlb.2	+	73	12036	c.11596G>A	c.(11596-11598)Gat>Aat	p.D3866N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3861					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCCTTGATGATTCCCTCAT	0.552000														22			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002676	122002676	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:122002676C>T	uc003eew.4	+	6	2343	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CASR_uc003eev.4_Silent_p.F625F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	625					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGCATTTTCCTGACAGCCT	0.552000														77			11		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493230	6493230	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:6493230G>A	uc002gde.4	-	17	3014	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	KIAA0753_uc010vtd.2_Silent_p.G341G|KIAA0753_uc010clo.3_Silent_p.G586G|KIAA0753_uc010vte.2_Silent_p.G586G	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	885						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGGGAGCTCGGCCTTCTTTCT	0.512000														48			11		0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044567	179044567	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:179044567G>A	uc021yjd.1	-	7	1036	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	HNRNPH1_uc011dgn.2_Silent_p.F65F|HNRNPH1_uc003mkf.4_Silent_p.F335F|HNRNPH1_uc003mkg.4_Silent_p.F243F|HNRNPH1_uc003mke.4_Silent_p.F335F|HNRNPH1_uc003mkh.4_Silent_p.F335F	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	335	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CATGAGTTGCGAACTCGACAT	0.438000														91			78		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647610	38647610	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38647610C>T	uc021wvo.1	-	8	1222	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SCN5A_uc021wvk.1_Missense_Mutation_p.M390I|SCN5A_uc021wvl.1_Missense_Mutation_p.M390I|SCN5A_uc021wvm.1_Missense_Mutation_p.M390I|SCN5A_uc021wvn.1_Missense_Mutation_p.M390I|SCN5A_uc021wvp.1_Missense_Mutation_p.M390I|SCN5A_uc021wvq.1_Missense_Mutation_p.M390I|SCN5A_uc021wvr.1_Missense_Mutation_p.M390I|SCN5A_uc021wvs.1_Missense_Mutation_p.M390I|SCN5A_uc021wvt.1_Missense_Mutation_p.M390I|SCN5A_uc021wvu.1_Missense_Mutation_p.M390I|SCN5A_uc021wvv.1_Missense_Mutation_p.M390I|SCN5A_uc021wvj.1_Missense_Mutation_p.M256I|SCN5A_uc021wvi.1_Missense_Mutation_p.M256I|SCN5A_uc021wvw.1_Missense_Mutation_p.M1I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	390					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGAAGAAGATCATGTAGATCT	0.567000														43			19		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976164	4976164	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:4976164G>A	uc010qyt.2	-	0	780	c.780C>T	c.(778-780)gcC>gcT	p.A260A		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGGACAACGGCCAGGTTGA	0.468000														78			10		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580499	140580499	+	Silent	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140580499C>A	uc003liy.3	+	0	1152	c.1152C>A	c.(1150-1152)tcC>tcA	p.S384S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	384	Cadherin 4.				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)			TTGTTTGTTCCATTCCGGAAG	0.448000														104			37		9.8876e-21	1.02073e-20	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168100111G>A	uc002udx.3	+	8	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E562K|XIRP2_uc010fpq.3_Missense_Mutation_p.E515K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	562					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373000														53			21		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37004998	37004998	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:37004998G>A	uc002oee.2	-	3	2065	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	ZNF260_uc010eey.2_Silent_p.I381I|ZNF260_uc002oef.2_Silent_p.I381I|ZNF260_uc002oed.2_Silent_p.I381I|ZNF260_uc021uti.1_Silent_p.I381I	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	381					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CACCAGTATGGATTCTCATGT	0.408000														91			22		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960280	33960280	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:33960280C>T	uc001bxj.4	+	7	2503	c.2336C>T	c.(2335-2337)tCt>tTt	p.S779F	ZSCAN20_uc009vui.3_Missense_Mutation_p.S778F	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	779					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGTGACCATTCTAATCTCATC	0.428000														110			18		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227963492	227963492	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:227963492G>A	uc021vxr.1	-	17	1223	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	COL4A4_uc021vxs.1_Silent_p.F374F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	374	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCGGCCAGGGAACCCTGGGT	0.502000														44			22		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025619	203025619	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:203025619C>T	uc009xaj.3	+	22	2598	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	PPFIA4_uc010pqf.2_Silent_p.S448S|PPFIA4_uc001gyz.3_Silent_p.S235S|PPFIA4_uc001gza.3_Silent_p.S235S|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	235					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGCCCTGAGCCAGGAAGAAG	0.572000														49			10		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685744	248685744	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248685744G>A	uc001ien.1	+	0	797	c.797G>A	c.(796-798)aGa>aAa	p.R266K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265K(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAATAGGAGATCCAAAAAC	0.443000														67			76		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874828	117874828	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:117874828T>C	uc003vji.3	+	2	541	c.368T>C	c.(367-369)aTt>aCt	p.I123T		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	123					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CTGAGGGATATTCGTTATAAT	0.373000														88			20		0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379570	133379570	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:133379570A>G	uc011mvj.2	+	1	1061	c.740A>G	c.(739-741)aAg>aGg	p.K247R		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA.	247										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCTGTTAGGAAGTTAAAGCAT	0.378000														15			5		0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55359008	55359008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:55359008C>T	uc002ehy.3	+	0	538	c.5C>T	c.(4-6)tCc>tTc	p.S2F	IRX6_uc002ehx.3_Missense_Mutation_p.S2F|IRX6_uc010ccb.1_5'Flank	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCACCATGTCCTTCCCACAC	0.627000														38			7		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39880099	39880099	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:39880099A>C	uc003opb.3	-	6	1028	c.890T>G	c.(889-891)tTc>tGc	p.F297C	MOCS1_uc003opa.3_Missense_Mutation_p.F297C|MOCS1_uc003opd.3_Missense_Mutation_p.F297C|MOCS1_uc003ope.3_Missense_Mutation_p.F210C	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	297	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGGCCTTGGAAGCCAGGGAT	0.547000														91			46		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398436	47398436	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:47398436G>A	uc001cqp.4	-	10	1412	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	CYP4A11_uc001cqq.2_Missense_Mutation_p.S454L	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	454					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTCTCACCTTGATCCTCCTGA	0.512000														310			54		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250615	177250615	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:177250615C>T	uc001glf.3	+	7	2615	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	FAM5B_uc001glg.3_Missense_Mutation_p.S663F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	768						extracellular region				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						GCTTTCAATTCTAAGCTGCCA	0.547000														89			7		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805245	7805245	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:7805245G>A	uc001qtb.3	-	2	265	c.231C>T	c.(229-231)caC>caT	p.H77H	APOBEC1_uc001qtc.3_Silent_p.H32H	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	77					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATGGATGGGTGAAAATCTC	0.488000														33			9		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31545314	31545314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:31545314G>A	uc001rkh.1	-	20	3609	c.3458C>T	c.(3457-3459)aCc>aTc	p.T1153I	DENND5B_uc001rki.1_Missense_Mutation_p.T1118I	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1118	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGCAACACGGTGAGGCTTCC	0.468000														50			7		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394406	10394406	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:10394406C>T	uc002mnq.2	+	2	900	c.581C>T	c.(580-582)cCc>cTc	p.P194L	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	194					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GACCTGCGGCCCCAAGGGCTG	0.622000														23			3		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950360	27950360	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:27950360G>A	uc003zqv.1	-	6	960	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	LINGO2_uc010mjf.1_Missense_Mutation_p.L104F|LINGO2_uc003zqu.1_Missense_Mutation_p.L104F|LINGO2_uc022bfc.1_Missense_Mutation_p.L104F	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	104						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGTTAAAGAGATTGTTGAAT	0.458000														64			60		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564875	46564875	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:46564875G>A	uc001ncv.2	-	6	1006	c.692C>T	c.(691-693)tCa>tTa	p.S231L	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.S231L|AMBRA1_uc001ncu.1_Missense_Mutation_p.S231L|AMBRA1_uc010rgu.1_Missense_Mutation_p.S231L|AMBRA1_uc001ncw.2_Missense_Mutation_p.S231L|AMBRA1_uc001ncx.2_Missense_Mutation_p.S231L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	231					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACTGGCTGTGATTGCAGGAG	0.572000														38			25		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133950552	133950552	+	Silent	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:133950552C>A	uc001lkx.4	+	5	1146	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TACGGAGACCCAGTTCCTTGA	0.498000														27			11		6.40141e-05	6.46138e-05	1	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:24259437C>T	uc003xdz.2	+	11	1372	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ADAMDEC1_uc010lub.2_Silent_p.F305F|ADAMDEC1_uc011lab.1_Silent_p.F305F	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTTCAAAATTCCCAAAGGATT	0.363000														49			5		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224719	158224719	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:158224719C>T	uc003ipm.4	+	2	704	c.245C>T	c.(244-246)tCg>tTg	p.S82L	GRIA2_uc011cit.2_Missense_Mutation_p.S35L|GRIA2_uc021xtr.1_Missense_Mutation_p.S82L|GRIA2_uc003ipl.4_Missense_Mutation_p.S82L|GRIA2_uc003ipk.4_Missense_Mutation_p.S35L|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	82					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	p.S82L(2)|p.S82S(1)		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)	TCCCAGTTTTCGAGAGGAGTC	0.368000														59			17		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092216	56092216	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:56092216G>A	uc001shh.3	-	6	1375	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	ITGA7_uc001shg.3_Silent_p.F381F|ITGA7_uc010sps.2_Silent_p.F288F|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.F268F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	425					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTGATCCCGAACATGGAGT	0.622000														25			15		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904307	74904307	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:74904307C>T	uc001owb.3	+	8	1515	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SLCO2B1_uc010rrq.2_Silent_p.L119L|SLCO2B1_uc010rrr.2_Silent_p.L230L|SLCO2B1_uc010rrs.2_Silent_p.L258L|SLCO2B1_uc001owc.3_Silent_p.L147L|SLCO2B1_uc001owd.3_Silent_p.L352L	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	374					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCCATCTTCCTGCTGGTGGT	0.627000														60			33		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328097	80328097	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:80328097G>A	uc003hlu.3	-	0	1276	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	420					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.R420C(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGCAAATGACGAAGTGGAATT	0.393000														82			40		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100200661	100200661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:100200661G>A	uc003hur.2	-	7	1139	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	342					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCATCCAATGAAAACTTCTT	0.333000														100			17		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455650	5455650	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:5455650A>T	uc002mca.4	+	0	225	c.148A>T	c.(148-150)Aag>Tag	p.K50*		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	50						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGATGCCCAAAGGCCTCATG	0.692000														34			18		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474245	73474245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:73474245G>A	uc003tzw.3	+	22	1553	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R	ELN_uc003tzn.3_Missense_Mutation_p.G482R|ELN_uc003tzy.3_Missense_Mutation_p.G458R|ELN_uc003tzz.3_Missense_Mutation_p.G401R|ELN_uc003tzo.3_Missense_Mutation_p.G449R|ELN_uc003tzp.3_Missense_Mutation_p.G393R|ELN_uc003tzq.3_Missense_Mutation_p.G346R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G463R|ELN_uc003tzt.3_Missense_Mutation_p.G487R|ELN_uc003tzu.3_Missense_Mutation_p.G468R|ELN_uc003tzv.3_Missense_Mutation_p.G453R|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Missense_Mutation_p.G472R|ELN_uc011kff.2_Missense_Mutation_p.G482R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	511	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGTGGCTCCTGGAGTTGGCGT	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							208			79		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258430	9258430	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:9258430C>T	uc002knv.3	+	8	5429	c.5165C>T	c.(5164-5166)gCc>gTc	p.A1722V	ANKRD12_uc002knw.3_Missense_Mutation_p.A1699V|ANKRD12_uc002knx.3_Missense_Mutation_p.A1699V|ANKRD12_uc010dkx.1_Missense_Mutation_p.A1429V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1722						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAGAAAATGCCGAAGATGAT	0.343000														18			9		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245961	166245961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:166245961G>A	uc002udc.3	+	26	5935	c.5645G>A	c.(5644-5646)cGa>cAa	p.R1882Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1882Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1882Q|SCN2A_uc021vry.1_Missense_Mutation_p.R382Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1882					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGGAAGAGCGATTCATGGCA	0.468000														62			8		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427903	135427903	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:135427903G>A	uc004ezu.1	+	5	2329	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	GPR112_uc010nsb.1_Missense_Mutation_p.E475K|GPR112_uc010nsc.1_Missense_Mutation_p.E447K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTGCCTAATGAAAATTTTAC	0.433000														98			18		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595325	2595325	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:2595325C>T	uc009zdu.1	+	5	1126	c.813C>T	c.(811-813)atC>atT	p.I271I	CACNA1C_uc001qkc.2_Silent_p.I271I|CACNA1C_uc001qjz.2_Silent_p.I271I|CACNA1C_uc001qkd.2_Silent_p.I271I|CACNA1C_uc001qke.2_Silent_p.I271I|CACNA1C_uc001qkf.2_Silent_p.I271I|CACNA1C_uc009zdw.1_Silent_p.I271I|CACNA1C_uc001qkg.2_Silent_p.I271I|CACNA1C_uc001qkh.2_Silent_p.I271I|CACNA1C_uc001qkl.2_Silent_p.I271I|CACNA1C_uc001qkj.2_Silent_p.I271I|CACNA1C_uc001qkk.2_Silent_p.I271I|CACNA1C_uc001qkn.2_Silent_p.I271I|CACNA1C_uc001qkm.2_Silent_p.I271I|CACNA1C_uc001qko.2_Silent_p.I271I|CACNA1C_uc001qkp.2_Silent_p.I271I|CACNA1C_uc001qkq.2_Silent_p.I271I|CACNA1C_uc001qku.2_Silent_p.I271I|CACNA1C_uc001qkr.2_Silent_p.I271I|CACNA1C_uc001qks.2_Silent_p.I271I|CACNA1C_uc001qkt.2_Silent_p.I271I|CACNA1C_uc009zdv.1_Silent_p.I271I|CACNA1C_uc001qkb.2_Silent_p.I271I|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.I7I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	271					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGCACATCGCCCTGCTTG	0.562000														18			11		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651317	38651317	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38651317A>G	uc021wvo.1	-	5	894	c.842T>C	c.(841-843)gTg>gCg	p.V281A	SCN5A_uc021wvk.1_Missense_Mutation_p.V281A|SCN5A_uc021wvl.1_Missense_Mutation_p.V281A|SCN5A_uc021wvm.1_Missense_Mutation_p.V281A|SCN5A_uc021wvn.1_Missense_Mutation_p.V281A|SCN5A_uc021wvp.1_Missense_Mutation_p.V281A|SCN5A_uc021wvq.1_Missense_Mutation_p.V281A|SCN5A_uc021wvr.1_Missense_Mutation_p.V281A|SCN5A_uc021wvs.1_Missense_Mutation_p.V281A|SCN5A_uc021wvt.1_Missense_Mutation_p.V281A|SCN5A_uc021wvu.1_Missense_Mutation_p.V281A|SCN5A_uc021wvv.1_Missense_Mutation_p.V281A|SCN5A_uc021wvj.1_Missense_Mutation_p.V147A|SCN5A_uc021wvi.1_Missense_Mutation_p.V147A|SCN5A_uc010hhl.1_Missense_Mutation_p.V104A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	281					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAAGTTGCGCACGCACTTGTG	0.587000														79			21		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14862651	14862651	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:14862651G>A	uc004cwg.1	-	8	2407	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	FANCB_uc004cwh.1_Silent_p.F713F	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	713					DNA repair	nucleoplasm		p.F713F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAATCCCTTCGAATGGTGTTC	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					76			35		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709152	91709152	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:91709152A>G	uc003ulg.3	+	30	7930	c.7705A>G	c.(7705-7707)Aaa>Gaa	p.K2569E	AKAP9_uc003ulf.3_Missense_Mutation_p.K2561E|AKAP9_uc003uli.3_Missense_Mutation_p.K2192E|AKAP9_uc003ulj.3_Missense_Mutation_p.K339E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2581	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGAATATGCAAAATTCTGTCA	0.343000			T	BRAF	papillary thyroid									44			24		0	0	1	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61976141	61976141	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:61976141C>T	uc001nta.2	+	1	1	c.-63_splice	c.e1-1			NM_002407	NP_002398	O75556	SG2A1_HUMAN	Homo sapiens secretoglobin, family 2A, member 1 (SCGB2A1), mRNA.							extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GGGTACTCACCTCCACAGCAA	0.582000														79			34		0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98703285	98703285	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:98703285C>T	uc003yhz.3	+	5	1245	c.917C>T	c.(916-918)tCc>tTc	p.S306F	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	306					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S306S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAGTGGAACTCCGTTTCACCT	0.468000														74			15		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130318625	130318625	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:130318625C>T	uc010htl.3	+	18	4655	c.4624C>T	c.(4624-4626)Ccc>Tcc	p.P1542S	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1542	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCAGGCCCCCCCGGGACACC	0.493000														39			14		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2827652	2827652	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:2827652C>T	uc002lwm.2	+	2	362	c.164C>T	c.(163-165)tCc>tTc	p.S55F	ZNF554_uc002lwl.2_Missense_Mutation_p.S4F	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGACTTCTCCCAGGAGGAG	0.537000														69			17		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:41729807C>G	uc003thq.3	-	1	957	c.722G>C	c.(721-723)cGg>cCg	p.R241P	INHBA_uc003thr.3_Missense_Mutation_p.R241P	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	241					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R241W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572000										TSP Lung(11;0.080)				59			4		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958619	26958620	+	Silent	DNP	GG	AA	AA	rs76379991		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:26958619_26958620GG>AA	uc002hbu.3	-	22	4279_4280	c.4176_4177CC>TT	c.(4174-4179)cacctg>caTTtg	p.1392_1393HL>HL		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1392						extracellular region		p.V1391I(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGGCCATCAGGTGAACGGTCA	0.530000														35			18		0	0	1	0	0
CTSL1	1514	broad.mit.edu	37	9	90343253	90343253	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:90343253A>C	uc004api.3	+	3	543	c.338A>C	c.(337-339)gAg>gCg	p.E113A	CTSL1_uc004aph.3_Missense_Mutation_p.E113A|CTSL1_uc010mqh.3_Intron|CTSL1_uc004apl.3_Missense_Mutation_p.E113A|CTSL1_uc004apk.3_Missense_Mutation_p.E113A	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	113					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	CTGTTTTATGAGGCCCCCAGA	0.488000														52			26		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839262	100839262	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:100839262C>T	uc003uyc.3	-	6	1158	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	MOGAT3_uc010lhr.3_Nonsense_Mutation_p.W263*	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	331					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGGGGACCCCACAGCTTTCC	0.642000														72			24		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597295	61597295	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:61597295C>T	uc010xev.2	+	5	597	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SERPINB2_uc010xew.2_Silent_p.L169L	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	184					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCAGAATCTCCTGCCTGATG	0.383000														31			26		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161840	142161840	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:142161840C>T	uc003yvy.3	+	6	1016	c.738C>T	c.(736-738)ttC>ttT	p.F246F	DENND3_uc010mep.3_Silent_p.F259F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	246	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCCCTTCGTGCCCATCC	0.582000														132			41		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549503	158549503	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158549503C>T	uc010pin.2	-	0	187	c.187G>A	c.(187-189)Ggt>Agt	p.G63S		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAAGTTAGACCCATGATGATC	0.473000														79			69		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882249	68882249	+	Silent	SNP	C	T	T	rs146411193		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:68882249C>T	uc010yqj.2	+	1	883	c.723C>T	c.(721-723)ttC>ttT	p.F241F	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	241						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCATAGAATTCGTGGGCCCCG	0.547000														109			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432962	47432962	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:47432962G>A	uc002leb.2	-	18	2529	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	747	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.I746N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGCTCGAAAGAAGATCTTGG	0.557000														38			10		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759222	121759222	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:121759222A>G	uc003ksw.1	+	3	996	c.790A>G	c.(790-792)Agt>Ggt	p.S264G	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S264G|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S311G|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S264G	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	264					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAGACATTTAGTGATCCTCA	0.473000														54			4		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220686	55220686	+	RNA	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55220686G>A	uc002qgs.1	+	0		c.1086G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGGACACTCAGGGGTCCCAGC	0.622000														27			10		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150398676	150398676	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:150398676G>A	uc003eyg.3	-	7	981	c.924C>T	c.(922-924)atC>atT	p.I308I	FAM194A_uc003eyh.3_Silent_p.I162I	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	308										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCCTCATAGATATAGTCAA	0.428000														50			25		0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248167	42248167	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:42248167G>A	uc002ifl.1	+	0	94	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ASB16_uc002ifm.1_Non-coding_Transcript	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	4					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGGCAAGAGAGACCTTCCC	0.682000														80			39		0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26405846	26405846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:26405846C>T	uc003nhv.3	+	1	423	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	BTN3A1_uc011dkj.2_Missense_Mutation_p.L19F|BTN3A1_uc010jqj.3_Missense_Mutation_p.L19F|BTN3A1_uc011dkk.2_Missense_Mutation_p.L19F	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	19					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGTCTGCCTCCTTTTGCTTCA	0.468000														94			23		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154145317	154145317	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:154145317C>T	uc003faa.3	-	1	1262	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	388						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTCCCATCGGACGCCACT	0.483000														47			18		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773732	145773732	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:145773732G>A	uc003zds.1	-	5	1293	c.738C>T	c.(736-738)tcC>tcT	p.S246S	ARHGAP39_uc011llk.1_Silent_p.S246S|ARHGAP39_uc003zdt.1_Silent_p.S246S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	246	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTGGCTGCCGGAGGGTCTGC	0.687000														15			24		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17039616	17039616	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:17039616C>T	uc002gqv.2	+	5	677	c.588C>T	c.(586-588)gtC>gtT	p.V196V	MPRIP_uc002gqu.2_Silent_p.V196V|MPRIP_uc002gqw.2_5'UTR	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	196	Interaction with F-actin (By similarity).|Ser-rich.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGAGAAAGTCCCCACCACCA	0.612000														21			10		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558206	159558206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:159558206G>A	uc001ftv.3	+	1	476	c.380G>A	c.(379-381)tGg>tAg	p.W127*		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	127	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GCTGAATTTTGGATCAATGGG	0.478000														99			21		0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155598993	155598993	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:155598993C>T	uc003wmk.1	-	1	710	c.559G>A	c.(559-561)Gca>Aca	p.A187T	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.A100T|SHH_uc003wmj.1_Missense_Mutation_p.A100T	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	187					CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTACCTGCTTTCACCGAG	0.627000														100			20		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80915356	80915356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:80915356G>A	uc002kgg.1	-	8	754	c.740C>T	c.(739-741)aCc>aTc	p.T247I	B3GNTL1_uc002kgf.1_Missense_Mutation_p.T136I|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	247							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GACGCGGTGGGTCCAGATGGT	0.647000														8			7		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116264184	116264184	+	Splice_Site	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:116264184A>C	uc003pwi.1	-	7	1753	c.1306_splice	c.e7+1	p.G436_splice		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	436	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ATTACTCACCACTGTAAGGCA	0.393000														18			14		0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20403822	20403822	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:20403822C>T	uc002rdo.1	-	2	678	c.379G>A	c.(379-381)Gag>Aag	p.E127K	SDC1_uc002rdp.1_Missense_Mutation_p.E127K|SDC1_uc010exv.3_Missense_Mutation_p.E127K|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	127					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGTGTGGTCTCCCTGGGTCGG	0.706000														62			26		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060866	44060866	+	Silent	SNP	C	T	T	rs147885393	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:44060866C>T	uc002ijr.4	+	5	1018	c.696C>T	c.(694-696)tcC>tcT	p.S232S	MAPT_uc010dau.3_Silent_p.S232S|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.S80S	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	232					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCAAGACTCCCCTCCCTCCA	0.692000														39			16		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129231	152129231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152129231C>T	uc001ezs.1	-	2	409	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	115	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTGTGTTTCCTGGGAACTT	0.527000														425			109		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66131683	66131683	+	RNA	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:66131683G>A	uc002jgq.3	+	5		c.10806G>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CAGCCCCTCCGACCTTCTCAC	0.597000														90			29		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224761	158224761	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:158224761C>T	uc003ipm.4	+	2	746	c.287C>T	c.(286-288)tCt>tTt	p.S96F	GRIA2_uc011cit.2_Missense_Mutation_p.S49F|GRIA2_uc021xtr.1_Missense_Mutation_p.S96F|GRIA2_uc003ipl.4_Missense_Mutation_p.S96F|GRIA2_uc003ipk.4_Missense_Mutation_p.S49F|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	96					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)	GACAAGAAGTCTGTAAATACC	0.393000														88			54		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322951	17322951	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:17322951C>T	uc010eak.3	+	39	6458	c.6306C>T	c.(6304-6306)cgC>cgT	p.R2102R	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2102	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CACCTGCCCGCCGCCCGGACC	0.726000														9			5		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862753	9862753	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:9862753C>T	uc010uym.2	-	12	2860	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	GRIN2A_uc002czo.4_Silent_p.T850T|GRIN2A_uc010uyn.2_Silent_p.T693T|GRIN2A_uc002czr.4_Silent_p.T850T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	850					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T850T(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCACACGCCCGTGAAACAGA	0.577000														88			47		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744754	17744754	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:17744754G>A	uc011mix.2	+	6	2866	c.2528G>A	c.(2527-2529)aGg>aAg	p.R843K	NHS_uc004cxx.3_Missense_Mutation_p.R822K|NHS_uc004cxy.3_Missense_Mutation_p.R666K|NHS_uc004cxz.3_Missense_Mutation_p.R645K|NHS_uc004cya.3_Missense_Mutation_p.R545K	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	822						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATCTCTTTCAGGAAACCAAAG	0.498000														167			27		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331219	17331219	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:17331219G>A	uc001baa.2	-	4	635	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	ATP13A2_uc001bac.2_Missense_Mutation_p.H149Y|ATP13A2_uc001bab.2_Missense_Mutation_p.H149Y	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	149					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCGCTCTTGTGGAGCTGGGCC	0.632000														113			13		0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58119549	58119549	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:58119549C>T	uc001jjx.1	-	3	359	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ZWINT_uc001jjy.1_Missense_Mutation_p.E108K|ZWINT_uc001jka.1_Missense_Mutation_p.E108K|ZWINT_uc009xoy.1_Non-coding_Transcript	NM_007057	NP_127490	O95229	ZWINT_HUMAN	Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA.	108	Interaction with NDC80 and ZW10.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TTGATGGCCTCTACGTGCTCC	0.537000														61			25		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749165	2749165	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:2749165C>T	uc003jda.3	-	3	898	c.656_splice	c.e3-1	p.G219_splice	IRX2_uc003jdb.3_Splice_Site_p.G219_splice	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGGCTGATCCCTGTGGGGG	0.741000														34			8		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597576	136597576	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:136597576T>C	uc004cep.4	-	2	613	c.479A>G	c.(478-480)cAg>cGg	p.Q160R	SARDH_uc004ceo.3_Missense_Mutation_p.Q160R|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Missense_Mutation_p.Q160R	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	160					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.R159R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCAGGCGCTGCCGGTTGGA	0.677000														186			17		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327860	80327860	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:80327860G>A	uc003hlu.3	-	0	1513	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	499				R -> C (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTGGCATAACGAATTTCACTT	0.478000														96			43		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575925	44575925	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:44575925G>A	uc003tlb.3	-	3	1840	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	NPC1L1_uc011kbw.2_Missense_Mutation_p.A595V|NPC1L1_uc003tlc.3_Missense_Mutation_p.A595V|NPC1L1_uc003tld.3_Missense_Mutation_p.A595V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	595					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTCTAAGAAGGCCTCCTCCCA	0.612000														99			21		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026056	64026056	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:64026056C>T	uc009ypi.3	+	10	1251	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	PLCB3_uc009ypg.2_Missense_Mutation_p.P375L|PLCB3_uc009yph.2_Missense_Mutation_p.P308L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	375	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAGGAGGAACCCTTCATTACC	0.647000														82			37		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56571847	56571847	+	Silent	SNP	G	C	C	rs142117181	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:56571847G>C	uc001skb.3	-	14	1447	c.1341C>G	c.(1339-1341)ccC>ccG	p.P447P	SMARCC2_uc001skd.3_Silent_p.P447P|SMARCC2_uc001ska.3_Silent_p.P447P|SMARCC2_uc001skc.3_Silent_p.P447P|SMARCC2_uc010sqf.2_Silent_p.P336P	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	447	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGAAGAACTCGGGGAGAGCCC	0.512000														21			7		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69673525	69673525	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:69673525G>A	uc004dyi.2	+	7	1531	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	DLG3_uc004dyj.2_Missense_Mutation_p.G58D|DLG3_uc011mpn.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	395	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGCTCCACAGGCCTGGGCTTC	0.567000														17			8		0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857859	131857859	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:131857859G>A	uc004bxh.3	-	13	1980	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	CRAT_uc004bxk.4_Silent_p.F545F	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	566					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCACGGGCCCGAAGAACATGA	0.622000														20			16		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399796	67399796	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:67399796C>T	uc001omp.3	-	6	949	c.861G>A	c.(859-861)agG>agA	p.R287R	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	287					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TACCTTTCTCCCTGTCTGTGG	0.622000														106			17		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917887	137917887	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:137917887G>A	uc002tva.1	+	4	1381	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.A351T	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P460T(1)		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)		TTCCTGGTCAGCCTGGGGCCT	0.512000														61			9		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71276536	71276536	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:71276536C>T	uc010ukf.2	+	10	1430	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	LRRC49_uc002asu.3_Missense_Mutation_p.S360F|LRRC49_uc002asx.3_Missense_Mutation_p.S326F|LRRC49_uc002asw.3_Missense_Mutation_p.S370F|LRRC49_uc002asy.3_Missense_Mutation_p.S76F|LRRC49_uc002asz.3_Missense_Mutation_p.S342F	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	370						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GATTCTGACTCTCCTCAGGAC	0.413000														60			31		0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110322028	110322028	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:110322028G>A	uc002tey.3	-	7	1322	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	SEPT10_uc010ywu.1_Missense_Mutation_p.H148Y|SEPT10_uc002tew.3_Missense_Mutation_p.H315Y|SEPT10_uc002tex.3_Missense_Mutation_p.H292Y|SEPT10_uc010ywv.2_Missense_Mutation_p.H181Y|SEPT10_uc002tev.1_Missense_Mutation_p.H122Y|SEPT10_uc010fjo.3_Non-coding_Transcript|SEPT10_uc002tez.1_Missense_Mutation_p.H90Y	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	315					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGCCTGGTATGGGTCTGCTCT	0.468000														65			42		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113169284	113169284	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:113169284G>A	uc003eag.4	-	14	2513	c.2222C>T	c.(2221-2223)gCt>gTt	p.A741V	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.A637V	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	741					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTTTCCACGAGCCTCCATACT	0.423000														55			40		0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2744117	2744117	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:2744117G>A	uc003gfg.2	-	5	1244	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	TNIP2_uc003gff.2_Missense_Mutation_p.P279L	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	386						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCTGCAGGGGGTTCTGGCTG	0.647000														15			7		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50375378	50375378	+	RNA	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:50375378T>C	uc001nhe.2	+	2		c.269T>C			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		ATGGGAGGACTTAACCAATTG	0.358000														28			17		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46486834	46486834	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:46486834C>T	uc003cpq.3	-	11	1692	c.1451G>A	c.(1450-1452)aGg>aAg	p.R484K	LTF_uc003fzr.3_Missense_Mutation_p.R440K|LTF_uc010hjh.3_Missense_Mutation_p.R482K|LTF_uc003cpr.3_Missense_Mutation_p.R471K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	484	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCCTGCAGTCCTGTCCACGGC	0.567000														65			25		0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114354840	114354840	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:114354840C>T	uc001edq.3	-	0	231	c.195G>A	c.(193-195)caG>caA	p.Q65Q	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	65						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGCTCCTCCTGCGCCGCCA	0.657000														163			20		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40777365	40777365	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:40777365G>A	uc001cfh.1	-	8	552	c.440C>T	c.(439-441)cCa>cTa	p.P147L	COL9A2_uc001cfi.1_5'UTR	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	147	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)			GGGCCCCGATGGTCCATCTGG	0.612000														86			9		0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18574378	18574378	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:18574378G>A	uc002wrf.4	+	1	208	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	16					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						TTTCTAGTTGGAGGAGAGCAG	0.413000														26			3		0	0	1	0	0
GPR89A	653519	broad.mit.edu	37	1	145811903	145811903	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:145811903G>A	uc001eot.2	-	3	480	c.306C>T	c.(304-306)atC>atT	p.I102I	GPR89A_uc010ozb.1_Silent_p.I77I|GPR89A_uc010ozc.1_Silent_p.I77I|GPR89A_uc001eos.2_5'UTR|GPR89A_uc010ozd.1_Silent_p.I49I|GPR89A_uc010oze.1_Silent_p.I102I	NM_001097612	NP_001091082	B7ZAQ6	GPHRA_HUMAN	Homo sapiens G protein-coupled receptor 89A (GPR89A), transcript variant 1, mRNA.	102					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TACGTAGTCGGATATTGCTCA	0.373000														188			35		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69250346	69250346	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:69250346A>C	uc001sup.3	-	8	1264	c.1203T>G	c.(1201-1203)gaT>gaG	p.D401E	CPM_uc001sur.3_Missense_Mutation_p.D401E|CPM_uc001suq.3_Missense_Mutation_p.D401E	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	401					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTGGGATAGAATCCAATTGCC	0.398000														80			51		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16703539	16703539	+	RNA	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:16703539G>A	uc010cpj.1	+	18		c.4650G>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		AGGACCATGAGGTAGCTTTGG	0.547000														77			18		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422069	53422069	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:53422069C>T	uc001vhi.3	-	0	707	c.503G>A	c.(502-504)gGg>gAg	p.G168E	PCDH8_uc001vhj.3_Missense_Mutation_p.G168E	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	168	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGTCTGCAGCCCGTTGGCGCC	0.716000														9			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689558	7689558	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7689558C>T	uc002giu.1	+	38	6260	c.6246C>T	c.(6244-6246)atC>atT	p.I2082I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2082	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACCATGATCGTGGGCTGCA	0.572000														50			19		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150902515	150902515	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:150902515C>T	uc001evu.2	+	2	523	c.333C>T	c.(331-333)agC>agT	p.S111S	SETDB1_uc001evw.4_Silent_p.S111S|SETDB1_uc009wmf.2_Silent_p.S111S|SETDB1_uc001evv.2_Silent_p.S111S|SETDB1_uc009wmg.2_Silent_p.S111S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGACAGTAGCTCTGAGGACG	0.438000														80			67		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57713204	57713204	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:57713204C>T	uc002emh.3	+	4	711	c.608C>T	c.(607-609)tCt>tTt	p.S203F	GPR97_uc010vhv.2_Missense_Mutation_p.S83F|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	203					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCGTCTTCTCTCACCAGCGA	0.637000														81			16		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394623	29394623	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:29394623C>A	uc003nmg.3	-	0	887	c.796G>T	c.(796-798)Gtc>Ttc	p.V266F		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGGAATGGACAGCAGAGGGT	0.517000														101			17		1.67942e-08	1.7132e-08	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10467416	10467416	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:10467416C>T	uc003wtc.3	-	3	4421	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1398					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGAAGTCCTTCCTCTTTG	0.557000														429			161		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224135	28224135	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:28224135C>T	uc009xky.3	-	15	2397	c.2299G>A	c.(2299-2301)Gat>Aat	p.D767N	ARMC4_uc010qds.2_Missense_Mutation_p.D292N|ARMC4_uc010qdt.2_Missense_Mutation_p.D459N|ARMC4_uc001itz.3_Missense_Mutation_p.D767N	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	767							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAGGCTGATCTGTTAGAAGT	0.428000														60			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047822	9047822	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9047822G>A	uc002mkp.3	-	4	34013	c.33809C>T	c.(33808-33810)cCt>cTt	p.P11270L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11272	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						ACTCTCTGCAGGATGGGTGAC	0.488000														27			3		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447804	135447804	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:135447804G>A	uc004cbn.3	+	6	918	c.870G>A	c.(868-870)acG>acA	p.T290T	C9orf171_uc004cbo.3_Silent_p.T254T	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	290								p.T290M(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGTTCCCCACGGAGGCCGATC	0.627000														75			12		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67159653	67159653	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:67159653C>T	uc001okr.3	+	1	149	c.56C>T	c.(55-57)tCc>tTc	p.S19F	RAD9A_uc021qmg.1_5'Flank	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	19					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding	p.S19F(2)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCGTCCACTCCCTGTCCCGC	0.716000								Other conserved DNA damage response genes						15			6		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53761859	53761859	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:53761859C>T	uc002qbi.2	+	0	315	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	77					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		actctcttgtctctgcacacg	0.473000														14			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725136	106725136	+	RNA	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:106725136T>C	uc021ser.1	-	928		c.22342A>G								Parts of antibodies, mostly variable regions.																		GCCGCTGATTTCCCCCCCATC	0.582000														101			8		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308294	72308294	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:72308294G>A	uc002jkf.3	+	11	1757	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	DNAI2_uc002jkg.3_Silent_p.E537E|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	549					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAAGGCCGAGGAGGAGTTCT	0.607000									Kartagener syndrome					25			19		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889240	18889240	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:18889240C>T	uc021qvx.1	-	2	241	c.50G>A	c.(49-51)gGa>gAa	p.G17E	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	17					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G16S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTTAATTTTTCCACCTCTGAA	0.308000														24			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215240	140215240	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140215240G>A	uc003lhq.2	+	0	1272	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	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_uc011dac.2_Silent_p.V424V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	438	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCTGGTGGTTACCGCGC	0.632000														111			76		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707690	96707690	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:96707690G>A	uc001kka.4	+	3	661	c.636G>A	c.(634-636)tgG>tgA	p.W212*	CYP2C9_uc009xut.3_Nonsense_Mutation_p.W212*	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	212					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCAGCCCCTGGATCCAGGTAA	0.348000														46			27		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450321	158450321	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158450321G>A	uc010pik.2	+	0	654	c.654G>A	c.(652-654)gtG>gtA	p.V218V	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V218V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACGAATTTGTGATATTCATTT	0.413000														221			63		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994197	140994197	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140994197C>G	uc004fbt.3	+	3	1331	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	336							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCCAGTCTCTTCTCCAG	0.463000										HNSCC(15;0.026)				465			23		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019948	20019948	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20019948C>T	uc001vwc.3	-	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	91										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAGT	0.632000														511			39		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350131	65350131	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:65350131T>C	uc001oeo.4	+	8	2253	c.1988T>C	c.(1987-1989)gTt>gCt	p.V663A		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	663	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTTCAGGAGTTTTGCAGACA	0.512000														55			5		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443860	150443860	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:150443860C>T	uc009wlr.3	+	10	2637	c.2436C>T	c.(2434-2436)tcC>tcT	p.S812S	RPRD2_uc010pcc.1_Silent_p.S786S|RPRD2_uc001eup.4_Silent_p.S786S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	812	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GACCATCTTCCCTGATGGACT	0.478000														44			14		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745120	73745120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:73745120G>A	uc002jpg.3	+	26	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1104					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617000														21			12		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990929	47990929	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:47990929C>T	uc002xur.1	-	1	1334	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	KCNB1_uc002xus.1_Missense_Mutation_p.G390R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	390					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACAATTTTCCCCAGGAGAGTC	0.507000														78			7		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113063098	113063099	+	Missense_Mutation	DNP	CC	TT	TT	rs145437043		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:113063098_113063099CC>TT	uc001ecb.3	+	4	1658_1659	c.1143_1144CC>TT	c.(1141-1146)gccccc>gcTTcc	p.P382S	WNT2B_uc001eca.3_Missense_Mutation_p.P363S|WNT2B_uc009wgg.3_Missense_Mutation_p.P290S	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	382					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAAAGCCCCCAAGAAGGC	0.505000														20			8		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750080	233750080	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:233750080G>A	uc010pxo.1	+	0	331	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	55						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GCTGCGCCAGGAGCTGCGCAA	0.632000														15			19		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52585569	52585569	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:52585569C>T	uc001rzx.3	-	0	216	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	KRT80_uc001rzy.3_Missense_Mutation_p.G40S	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	40	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GAGCTGAAGCCCGGCCCGGGG	0.677000														15			13		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74324368	74324368	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:74324368C>T	uc011lsa.1	-	16	3332	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	TMEM2_uc010mos.2_Missense_Mutation_p.G868E|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	931						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACCAGGCTTTCCAAAAAAGAC	0.448000														35			25		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159392	118159392	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:118159392G>A	uc003yoh.3	+	2	501	c.271_splice	c.e2+1	p.G91_splice	SLC30A8_uc010mcz.3_Splice_Site_p.G42_splice|SLC30A8_uc003yog.3_Splice_Site_p.G42_splice|SLC30A8_uc011lia.2_Splice_Site_p.G42_splice|SLC30A8_uc022bab.1_Splice_Site_p.G42_splice	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	91					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)			AGAGGTCGTGGGTGAGTCTTT	0.398000														44			53		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135469928	135469928	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:135469928G>A	uc004ezu.1	+	15	8097	c.7806G>A	c.(7804-7806)ggG>ggA	p.G2602G	GPR112_uc010nsb.1_Silent_p.G2397G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTGGGAGGGATTTTGGCTT	0.413000														134			77		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626486	44626486	+	Silent	SNP	C	G	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:44626486C>G	uc002ikn.1	+	8	3984	c.3981C>G	c.(3979-3981)gtC>gtG	p.V1327V	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Silent_p.V288V|LRRC37A2_uc010dax.2_Silent_p.V257V	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1327						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GTCCAAAGGTCAGAAAGAAAA	0.448000														402			76		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24466921	24466921	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:24466921C>T	uc003ned.1	-	9	919	c.808G>A	c.(808-810)Gag>Aag	p.E270K	GPLD1_uc010jpr.1_Missense_Mutation_p.E107K|GPLD1_uc010jps.1_Missense_Mutation_p.E270K	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	270						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTCCCATTCTCCAACATGAAG	0.403000														28			16		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82508686	82508686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:82508686C>T	uc003uhx.2	-	9	13910	c.13621G>A	c.(13621-13623)Gga>Aga	p.G4541R	PCLO_uc003uhv.2_Missense_Mutation_p.G4541R|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCGCACTTCCCCCAGGAAGA	0.358000														27			9		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166405617	166405617	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:166405617C>T	uc003irg.4	+	4	1111	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	278					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGCCATTTTCCAAAGCTTGG	0.493000														271			78		0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245390	40245390	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:40245390C>T	uc003guz.2	+	2	1108	c.384C>T	c.(382-384)gcC>gcT	p.A128A	RHOH_uc021xnp.1_Silent_p.A128A	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	128					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCCACAGGGCCTCCTGCGTCA	0.592000														47			20		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221765	142221765	+	Missense_Mutation	SNP	G	A	A	rs151336979		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:142221765G>A	uc003ywd.1	-	7	2481	c.2173C>T	c.(2173-2175)Cgt>Tgt	p.R725C	SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_Missense_Mutation_p.S725L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCAATGTGACGAGATCTGACA	0.363000														66			9		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334194	77334194	+	Silent	SNP	G	A	A	rs148705153		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:77334194G>A	uc002ffc.4	-	16	3059	c.2640C>T	c.(2638-2640)atC>atT	p.I880I	ADAMTS18_uc010chc.1_Silent_p.I468I|ADAMTS18_uc002ffe.1_Silent_p.I576I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	880					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGACTGCACGATACTCCAGG	0.478000														44			8		0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681359	125681359	+	Silent	SNP	C	T	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:125681359C>T	uc004bnk.3	-	1	929	c.855G>A	c.(853-855)ctG>ctA	p.L285L	ZBTB26_uc004bnj.3_Silent_p.L285L|ZBTB26_uc022bnc.1_Silent_p.L285L	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						CGTAGTTCTCCAGGTGACGAA	0.473000														120			39		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334325	35334325	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:35334325G>A	uc001byc.3	-	6	2366	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	789					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGGGCAGGGGGATGCGCGGCC	0.721000														24			28		0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278461	27278461	+	Silent	SNP	G	A	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:27278461G>A	uc001bni.2	-	1	504	c.411C>T	c.(409-411)agC>agT	p.S137S	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	137										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)		CACGATCAGGGCTGGGGGGCA	0.637000														36			5		0	0	1	0	0
C1orf201	90529	broad.mit.edu	37	1	24706253	24706253	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:24706253delA	uc001bjc.3	-	4	519	c.352delT	c.(352-354)tcgfs	p.S118fs	C1orf201_uc001bjb.3_Frame_Shift_Del_p.S26fs|C1orf201_uc001bja.3_Frame_Shift_Del_p.S71fs|C1orf201_uc001bjd.3_Frame_Shift_Del_p.S118fs|C1orf201_uc001bjf.3_5'UTR	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	118								p.N118Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		ATAAAATCCGATGGGATAGTG	0.423													---	62	---	---	40	---					
FAM9C	171484	broad.mit.edu	37	X	13061230	13061253	+	Splice_Site	DEL	GGACTTAAACACTTTACCCCGTGT	-	-			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:13061230_13061253delGGACTTAAACACTTTACCCCGTGT	uc004cvh.2	-	3	509	c.182_splice	c.e3+1	p.G61_splice	FAM9C_uc004cvg.3_Splice_Site_p.G61_splice	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA.	61						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CAGGCAAAAGGGACTTAAACACTTTACCCCGTGTGTTCATCTGT	0.411													---	173	---	---	11	---					
HUWE1	10075	broad.mit.edu	37	X	53576039	53576040	+	Frame_Shift_Ins	INS	-	ACGC	ACGC			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:53576039_53576040insACGC	uc004dsp.3	-	66	10317_10318	c.9915_9916insGCGT	c.(9913-9918)cgttcafs	p.R3305fs	HUWE1_uc004dsn.3_Frame_Shift_Ins_p.R2113fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3305					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGCCCCCCTGAACGCTGGATCT	0.525													---	78	---	---	18	---					
