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
PCDHGC5	56097	broad.mit.edu	37	5	140711777	140711777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140711777C>T	uc003lji.2	+	0	1526	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	PCDHGC5_uc011dan.2_Missense_Mutation_p.S509F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	511	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATCAACTCCGACACTGGG	0.562000														126			73		0	0	0.014410	0	0
ABCB11	8647	broad.mit.edu	37	2	169826677	169826677	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:169826677G>A	uc002ueo.1	-	14	1813	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	ABCB11_uc010zda.1_Nonsense_Mutation_p.Q5*|ABCB11_uc010zdb.1_Nonsense_Mutation_p.Q39*	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	563	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTGTTTCTGGCCACCACTC	0.498000														10			19		0	0	0.007413	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130825	52130825	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52130825C>T	uc002pxe.3	-	5	1311	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	391					cell adhesion	integral to membrane	sugar binding	p.P390L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTGTTGGCCCAGGGCCCAGC	0.657000														26			14		0	0	0.003163	0	0
ATP8B1	5205	broad.mit.edu	37	18	55334335	55334335	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:55334335C>T	uc002lgw.3	-	19	2394	c.2274G>A	c.(2272-2274)ggG>ggA	p.G758G	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	758					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAATATCCTCCCCATAGCAGA	0.353000														32			18		0	0	0.012319	0	0
COL4A1	1282	broad.mit.edu	37	13	110827604	110827604	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:110827604G>A	uc001vqw.4	-	36	3281	c.3159C>T	c.(3157-3159)ggC>ggT	p.G1053G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1053	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCCAGGTGGGCCTGCCTGCC	0.592000														88			35		0	0	0.007835	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695858	148695858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:148695858C>T	uc003lqh.3	+	10	1390	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	AFAP1L1_uc010jgy.3_Missense_Mutation_p.P420L|AFAP1L1_uc003lqi.2_Missense_Mutation_p.P35L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	420	PH 2.						protein binding	p.V419I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGGTTCCCTGCTGTGGT	0.642000														60			28		0	0	0.008361	0	0
MCTP1	79772	broad.mit.edu	37	5	94230396	94230396	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:94230396G>A	uc003kkx.2	-	10	1797	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	MCTP1_uc003kkv.2_Silent_p.S378S|MCTP1_uc003kkw.2_Silent_p.S332S|MCTP1_uc003kkz.2_Silent_p.S260S|MCTP1_uc003kku.2_Silent_p.S115S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	599					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTCCTCCAGGGAGTTGACAG	0.507000														34			13		0	0	0.002450	0	0
OASL	8638	broad.mit.edu	37	12	121458598	121458598	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:121458598G>A	uc001tzj.1	-	5	1317	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	437	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	p.F437F(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATTCTTCACGAAGACCTGGA	0.542000														73			33		0	0	0.003271	0	0
DPP6	1804	broad.mit.edu	37	7	154684056	154684056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:154684056G>A	uc003wlk.3	+	25	2593	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	DPP6_uc003wli.3_Missense_Mutation_p.E758K|DPP6_uc003wlm.3_Missense_Mutation_p.E760K|DPP6_uc011kvq.2_Missense_Mutation_p.E715K	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	822					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTACCCGGACGAAAGCCATTA	0.512000														40			38		0	0	0.010771	0	0
TBX19	9095	broad.mit.edu	37	1	168274388	168274388	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:168274388G>A	uc001gfl.3	+	5	921	c.870G>A	c.(868-870)caG>caA	p.Q290Q	TBX19_uc001gfj.4_Intron|TBX19_uc001gfm.3_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	290					anatomical structure morphogenesis	nucleus	DNA binding	p.R289Q(1)		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)					GACACCGGCAGGCTCCCTACC	0.587000														91			41		0	0	0.014410	0	0
USP31	57478	broad.mit.edu	37	16	23117767	23117767	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:23117767G>A	uc002dll.3	-	2	813	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	271					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TACAGACAGGGAAAGATGGTC	0.393000														17			12		0	0	0.003163	0	0
C1orf9	51430	broad.mit.edu	37	1	172544683	172544683	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:172544683C>T	uc001giq.4	+	10	1499	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	C1orf9_uc010pmm.1_Silent_p.L395L|C1orf9_uc009wwd.3_Silent_p.L358L|C1orf9_uc010pmn.2_Silent_p.L358L|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	395	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GTGGATTAAGCTGGGTACTTT	0.299000														26			18		0	0	0.010504	0	0
ANP32C	23520	broad.mit.edu	37	4	165118291	165118291	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:165118291C>T	uc011cjk.2	-	0	573	c.573G>A	c.(571-573)gaG>gaA	p.E191E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	191	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		caccttcctcctcctcctcct	0.552000														9			8		0	0	0.003080	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958278	153958278	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:153958278G>T	uc021xgc.1	+	11	2494	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	ARHGEF26_uc011bog.1_Missense_Mutation_p.R737I|ARHGEF26_uc011boh.1_Missense_Mutation_p.R737I|ARHGEF26_uc011boi.1_Missense_Mutation_p.R5I	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	737	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTCTATTCAAGACAGAGCTCT	0.428000														17			4		0.00909568	0.00925994	0.009096	1	0
TDGF1	6997	broad.mit.edu	37	3	46621317	46621317	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:46621317G>A	uc003cpv.3	+	3	696	c.312G>A	c.(310-312)cgG>cgA	p.R104R	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_Silent_p.R88R	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	104	EGF-like.				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTACGGACGGAACTGTGAGC	0.547000														92			57		0	0	0.014410	0	0
TBX19	9095	broad.mit.edu	37	1	168274397	168274397	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:168274397C>T	uc001gfl.3	+	5	930	c.879C>T	c.(877-879)taC>taT	p.Y293Y	TBX19_uc001gfj.4_Intron|TBX19_uc001gfm.3_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	293					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)					AGGCTCCCTACCCTTCTGCGT	0.582000														93			38		0	0	0.011902	0	0
GKN1	56287	broad.mit.edu	37	2	69207869	69207869	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:69207869C>T	uc002sfc.3	+	5	577	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	172					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AGAGGCAAGCCTGTTTTTTTA	0.408000														32			24		0	0	0.005443	0	0
OTOL1	131149	broad.mit.edu	37	3	161214749	161214749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:161214749C>T	uc011bpb.2	+	0	154	c.154C>T	c.(154-156)Cca>Tca	p.P52S		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	52						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGCCCACCTCCAGAAGAAGA	0.463000														50			29		0	0	0.006320	0	0
LIN7A	8825	broad.mit.edu	37	12	81283035	81283035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:81283035G>A	uc001szj.1	-	1	389	c.196C>T	c.(196-198)Cga>Tga	p.R66*	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	66	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CATACCTCTCGAATAGCTGTA	0.343000														37			26		0	0	0.005443	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588887	33588887	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:33588887G>A	uc003jia.1	-	17	2845	c.2682C>T	c.(2680-2682)tgC>tgT	p.C894C	ADAMTS12_uc010iuq.1_Silent_p.C809C	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	894	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGTCGCCGAGCATGCTTCCC	0.587000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			22		0	0	0.012319	0	0
NOS1	4842	broad.mit.edu	37	12	117696847	117696847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:117696847G>A	uc001twn.2	-	14	3167	c.2456C>T	c.(2455-2457)cCc>cTc	p.P819L	NOS1_uc021ren.1_Missense_Mutation_p.P483L|NOS1_uc021reo.1_Missense_Mutation_p.P483L|NOS1_uc001twm.2_Missense_Mutation_p.P819L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	819	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATTCTCAGGGGGATCTCCATT	0.502000														43			23		0	0	0.003330	0	0
ITGAL	3683	broad.mit.edu	37	16	30507602	30507603	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30507602_30507603CC>TT	uc002dyi.4	+	13	1864_1865	c.1688_1689CC>TT	c.(1687-1689)ccc>cTT	p.P563L	ITGAL_uc002dyj.4_Missense_Mutation_p.P480L|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	563					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGCTTAGTCCCCAGCCAAGTC	0.634000														69			27		0	0	0.004672	0	0
WDFY3	23001	broad.mit.edu	37	4	85658343	85658343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:85658343G>A	uc003hpd.3	-	40	7159	c.6751C>T	c.(6751-6753)Cat>Tat	p.H2251Y		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2251						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTACCCAAATGATTCTGCCAG	0.433000														59			33		0	0	0.004878	0	0
EDNRB	1910	broad.mit.edu	37	13	78474728	78474728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:78474728G>A	uc001vkp.1	-	5	1436	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	EDNRB_uc001vkq.1_Missense_Mutation_p.P338L|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.P338L|EDNRB_uc010aez.1_Missense_Mutation_p.P338L	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	338					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GAGGTGAAGGGGAAGCCAGCA	0.433000														51			41		0	0	0.006999	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357753	63357753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:63357753G>A	uc001nxh.2	-	2	629	c.206C>T	c.(205-207)gCc>gTc	p.A69V	PLA2G16_uc001nxi.2_Missense_Mutation_p.A81V|PLA2G16_uc009you.1_Missense_Mutation_p.A69V	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	69					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GTCACTCCCGGCCACATCATA	0.572000														39			23		0	0	0.003330	0	0
IQCA1	79781	broad.mit.edu	37	2	237285763	237285763	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:237285763T>C	uc002vwb.2	-	12	1602	c.1568A>G	c.(1567-1569)aAc>aGc	p.N523S	IQCA1_uc002vvz.1_Missense_Mutation_p.N515S|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.N474S	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	515							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATCAGAGAGGTTGACTTTCAG	0.448000														31			34		0	0	0.004878	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613294	27613294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:27613294G>A	uc002hdy.4	-	1	1807	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	573						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)			CAGAACTTGAGGACTAGTCCG	0.478000														55			36		0	0	0.004289	0	0
GPR110	266977	broad.mit.edu	37	6	46991839	46991840	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:46991839_46991840GG>AA	uc003oyt.3	-	4	590_591	c.391_392CC>TT	c.(391-393)cca>TTa	p.P131L	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.P131L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	131					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTCACAGCTTGGGAGTGCTCCA	0.520000														31			38		0	0	0.004672	0	0
SIK1	150094	broad.mit.edu	37	21	44837584	44837584	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:44837584G>A	uc002zdf.2	-	12	1942	c.1815C>T	c.(1813-1815)atC>atT	p.I605I		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	605					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCCCCTTGATTTTGTTCA	0.662000														10			7		0	0	0.001984	0	0
IDH3G	3421	broad.mit.edu	37	X	153053350	153053351	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153053350_153053351GG>AA	uc004fip.3	-	6	653_654	c.467_468CC>TT	c.(466-468)acc>aTT	p.T156I	IDH3G_uc004fiq.3_Missense_Mutation_p.T156I|IDH3G_uc004fit.1_Missense_Mutation_p.T156I|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	156					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	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)				NADH(DB00157)	CCTTGTGCCGGGTCACCACGCC	0.609000														73			39		0	0	0.004672	0	0
TARBP1	6894	broad.mit.edu	37	1	234563101	234563101	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:234563101G>A	uc001hwd.3	-	18	3285	c.3285C>T	c.(3283-3285)aaC>aaT	p.N1095N		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1095					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CATGTCCAAGGTTTTCTATGA	0.303000														23			17		0	0	0.007413	0	0
F8	2157	broad.mit.edu	37	X	154157306	154157306	+	Missense_Mutation	SNP	C	T	T	rs142347597	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:154157306C>T	uc004fmt.3	-	13	4930	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1587	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTGGTTATCCCAAGCAAGA	0.423000														167			135		0	0	0.014410	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052830	33052830	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:33052830C>T	uc003ocu.2	+	2	584	c.468C>T	c.(466-468)gtC>gtT	p.V156V	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.V52V	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	156	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GCATTCAAGTCCGATGGTTCC	0.552000														72			80		0	0	0.014410	0	0
TRIM17	51127	broad.mit.edu	37	1	228596894	228596894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:228596894C>T	uc001hsu.3	-	5	1247	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	TRIM11_uc001hss.3_5'Flank|TRIM11_uc010pvx.2_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.3_Missense_Mutation_p.E288K|TRIM17_uc009xfb.2_Missense_Mutation_p.E288K	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	288	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTTAGCACTTCAATCTGTCCG	0.602000														91			59		0	0	0.014410	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465994	160465994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160465994G>A	uc001fwe.2	-	1	309	c.239C>T	c.(238-240)cCg>cTg	p.P80L	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.P80L|SLAMF6_uc010pjh.2_Missense_Mutation_p.P31L|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.P31L	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	80						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCTGTTTCGGATTAGTCAC	0.468000														66			52		0	0	0.014410	0	0
SOX8	30812	broad.mit.edu	37	16	1033775	1033775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:1033775G>A	uc002ckn.3	+	1	585	c.470G>A	c.(469-471)cGc>cAc	p.R157H	LMF1_uc002ckk.2_5'Flank|LMF1_uc002ckm.1_5'Flank	NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	157					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GAGGCAGAGCGCCTTCGCGTG	0.687000														29			19		0	0	0.010504	0	0
RPTN	126638	broad.mit.edu	37	1	152127305	152127305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:152127305C>T	uc001ezs.1	-	2	2335	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	757	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						TTGCCTGTCTCGTCTCTGATG	0.512000														310			172		0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6080784	6080784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6080784G>A	uc001qnn.1	-	43	7779	c.7529C>T	c.(7528-7530)tCc>tTc	p.S2510F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2510					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAAGACTGGGAGTCCCCCCG	0.612000														51			31		0	0	0.008361	0	0
CDHR2	54825	broad.mit.edu	37	5	176011254	176011254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:176011254G>A	uc021yie.1	+	17	2396	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	CDHR2_uc003mem.2_Missense_Mutation_p.D708N|CDHR2_uc003men.1_Missense_Mutation_p.D708N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	708	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAAGGAGGAGGATCCAGGTAT	0.562000														38			16		0	0	0.004990	0	0
ARID1B	57492	broad.mit.edu	37	6	157469767	157469767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:157469767C>T	uc003qqp.3	+	7	2522	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	ARID1B_uc003qqo.3_Missense_Mutation_p.S854F|ARID1B_uc003qqn.3_Missense_Mutation_p.S841F|ARID1B_uc003qqq.1_Missense_Mutation_p.S225F	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	841					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGTAACTACTCCAGACCCCCA	0.478000														23			25		0	0	0.003954	0	0
MKS1	54903	broad.mit.edu	37	17	56288020	56288020	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:56288020G>A	uc002ivr.2	-	11	1099	c.1024_splice	c.e11+1	p.H342_splice	MKS1_uc010wnq.2_Splice_Site_p.H139_splice|MKS1_uc021uam.1_Splice_Site_p.H332_splice	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	342	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATTACTTACGAGCAGTTGGC	0.408000														51			32		0	0	0.012213	0	0
MGAM	8972	broad.mit.edu	37	7	141731489	141731489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141731489G>A	uc003vwy.3	+	12	1534	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	494	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGTCTGGCCTGGACAAACTGT	0.358000														115			43		0	0	0.010771	0	0
OPCML	4978	broad.mit.edu	37	11	132306634	132306634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:132306634G>A	uc010sck.2	-	4	754	c.704C>T	c.(703-705)tCa>tTa	p.S235L	OPCML_uc001qgu.3_Missense_Mutation_p.S228L|OPCML_uc001qgs.3_Missense_Mutation_p.S235L|OPCML_uc001qgt.3_Missense_Mutation_p.S234L|OPCML_uc010scl.2_Missense_Mutation_p.S194L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	235	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGACCGACTGAAACACCAGT	0.498000														34			24		0	0	0.002780	0	0
GAA	2548	broad.mit.edu	37	17	78091451	78091451	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:78091451A>C	uc002jxp.3	+	16	2751	c.2384A>C	c.(2383-2385)gAg>gCg	p.E795A	GAA_uc002jxo.3_Missense_Mutation_p.E795A|GAA_uc002jxq.3_Missense_Mutation_p.E795A	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	795					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCTCCCCGTGAGCCAGCCATC	0.677000														29			18		0	0	0.010504	0	0
H1FNT	341567	broad.mit.edu	37	12	48723227	48723228	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:48723227_48723228GG>AA	uc001rrm.3	+	0	465_466	c.153_154GG>AA	c.(151-156)aggggc>agAAgc	p.G52S		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	52					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACCATCGAGGGGCTGCTCAAG	0.624000														19			8		0	0	0.004672	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461395	48461395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:48461395C>T	uc003csw.2	-	10	2570	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.G767E|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	767	Pro-rich.				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	p.G767R(1)		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)		GGTTCCAGGTCCATTTTGGGG	0.652000														18			14		0	0	0.003163	0	0
VMAC	400673	broad.mit.edu	37	19	5908851	5908851	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:5908851C>T	uc002mds.4	+	1	258	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN	Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.	70						cytoplasm				lung(1)	1						TGCCACACTCCAGGAGCAGCT	0.607000														40			21		0	0	0.002780	0	0
CES5A	221223	broad.mit.edu	37	16	55890354	55890354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:55890354C>T	uc021tir.1	-	9	1293	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CES5A_uc002eip.2_Missense_Mutation_p.E354K|CES5A_uc002eio.2_Missense_Mutation_p.E354K|CES5A_uc002eiq.2_Missense_Mutation_p.E115K|CES5A_uc002eir.2_Missense_Mutation_p.E248K	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	354						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAGGAGCCTCCTTCTGTGGA	0.547000														22			40		0	0	0.007835	0	0
EPB41	2035	broad.mit.edu	37	1	29438901	29438901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:29438901G>A	uc001brm.2	+	18	2564	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	EPB41_uc001brg.2_Missense_Mutation_p.E590K|EPB41_uc001brh.2_Missense_Mutation_p.E537K|EPB41_uc001brj.2_Missense_Mutation_p.E550K|EPB41_uc001bri.2_Missense_Mutation_p.E724K|EPB41_uc001brl.2_Missense_Mutation_p.E780K|EPB41_uc021okg.1_Missense_Mutation_p.E759K|EPB41_uc009vtm.2_Missense_Mutation_p.E392K|EPB41_uc009vtl.2_Missense_Mutation_p.E507K|EPB41_uc009vtn.2_Non-coding_Transcript	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	813	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TGGGATTTCAGAGACACGTAT	0.418000														62			43		0	0	0.014410	0	0
DDR1	780	broad.mit.edu	37	6	30862330	30862331	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30862330_30862331CC>TT	uc003nrv.3	+	9	1437_1438	c.1395_1396CC>TT	c.(1393-1398)gtccct>gtTTct	p.P466S	DDR1_uc010jse.3_Missense_Mutation_p.P466S|DDR1_uc003nrq.3_Missense_Mutation_p.P466S|DDR1_uc003nrr.3_Missense_Mutation_p.P466S|DDR1_uc003nrs.3_Missense_Mutation_p.P466S|DDR1_uc003nrt.3_Missense_Mutation_p.P466S|DDR1_uc011dms.2_Missense_Mutation_p.P484S|DDR1_uc003nru.3_Missense_Mutation_p.P466S|DDR1_uc003nry.2_Missense_Mutation_p.P466S|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Intron	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	466					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCTCTCTGTCCCTGGGGACAC	0.634000														49			86		0	0	0.004672	0	0
ATP10A	57194	broad.mit.edu	37	15	25959073	25959073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:25959073G>A	uc010ayu.3	-	9	2198	c.2092C>T	c.(2092-2094)Ccg>Tcg	p.P698S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	698					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCATCCGGGCTCTCCGCC	0.662000														37			24		0	0	0.003330	0	0
LGR5	8549	broad.mit.edu	37	12	71976280	71976280	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:71976280C>T	uc001swl.3	+	16	1645	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	LGR5_uc001swm.3_Silent_p.L509L|LGR5_uc021rar.1_Silent_p.L461L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	533						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						TGAGGAAGACCTGAAAGCCCT	0.458000														85			42		0	0	0.011902	0	0
IRAK3	11213	broad.mit.edu	37	12	66638963	66638963	+	Missense_Mutation	SNP	G	A	A	rs146885838		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:66638963G>A	uc001sth.3	+	10	1337	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IRAK3_uc010ssy.2_Missense_Mutation_p.R351Q	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	412	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.R412Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CCCTGCCCTCGGAATTTCTCT	0.478000														81			49		0	0	0.014410	0	0
BNC2	54796	broad.mit.edu	37	9	16436277	16436277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:16436277G>A	uc003zml.3	-	5	2055	c.1915C>T	c.(1915-1917)Cct>Tct	p.P639S	BNC2_uc011lmw.2_Missense_Mutation_p.P544S|BNC2_uc003zmm.3_Missense_Mutation_p.P597S|BNC2_uc003zmq.1_Missense_Mutation_p.P653S|BNC2_uc003zmr.1_Missense_Mutation_p.P676S|BNC2_uc003zmp.1_Missense_Mutation_p.P667S|BNC2_uc010mij.1_Missense_Mutation_p.P561S|BNC2_uc011lmv.2_Missense_Mutation_p.P465S|BNC2_uc003zmo.1_Missense_Mutation_p.P561S|BNC2_uc003zmj.3_Missense_Mutation_p.P404S|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.P404S|BNC2_uc003zmn.1_Missense_Mutation_p.P404S	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATCTTCACAGGCATGCTTGAC	0.522000														28			36		0	0	0.004878	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086598	39086598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:39086598G>A	uc011aej.1	-	2	915	c.862C>T	c.(862-864)Cct>Tct	p.P288S	KCNJ6_uc002ywo.2_Missense_Mutation_p.P288S	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	288					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCCCAGAAAGGACTCTGTTGG	0.478000														66			43		0	0	0.010771	0	0
CA14	23632	broad.mit.edu	37	1	150234998	150234998	+	Silent	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:150234998T>G	uc001etx.3	+	4	780	c.474T>G	c.(472-474)gcT>gcG	p.A158A		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	Homo sapiens carbonic anhydrase XIV (CA14), mRNA.	158						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCCTGGCTGTCCTGGGCA	0.512000														44			38		0	0	0.005524	0	0
NHS	4810	broad.mit.edu	37	X	17746076	17746076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:17746076G>A	uc011mix.2	+	6	4188	c.3850G>A	c.(3850-3852)Gat>Aat	p.D1284N	NHS_uc004cxx.3_Missense_Mutation_p.D1263N|NHS_uc004cxy.3_Missense_Mutation_p.D1107N|NHS_uc004cxz.3_Missense_Mutation_p.D1086N|NHS_uc004cya.3_Missense_Mutation_p.D986N	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1263						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)					CCGCCCAAATGATTTGGATGG	0.483000														93			38		0	0	0.003755	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406258	38406258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38406258G>A	uc003jlc.2	+	6	1089	c.743G>A	c.(742-744)gGa>gAa	p.G248E	EGFLAM_uc003jlb.2_Missense_Mutation_p.G248E|EGFLAM_uc003jle.2_Missense_Mutation_p.G14E|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	248						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCCGCTATGGACCCCGTTAT	0.478000														34			22		0	0	0.003330	0	0
SLC2A2	6514	broad.mit.edu	37	3	170725020	170725020	+	Missense_Mutation	SNP	C	T	T	rs144822218		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:170725020C>T	uc003fhe.1	-	4	838	c.529G>A	c.(529-531)Ggt>Agt	p.G177S	SLC2A2_uc003fhf.1_Missense_Mutation_p.G4S|SLC2A2_uc011bpu.1_Missense_Mutation_p.G50S	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	177					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GCAATTTCACCGATATACATA	0.428000														31			6		0	0	0.001168	0	0
CARD6	84674	broad.mit.edu	37	5	40854198	40854198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:40854198G>A	uc003jmg.3	+	2	2839	c.2764G>A	c.(2764-2766)Ggt>Agt	p.G922S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	922					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAAGACACAAGGTGGGGCTTC	0.498000														103			57		0	0	0.014410	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920857	3920857	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:3920857G>A	uc002fxe.3	-	47	7873	c.7809C>T	c.(7807-7809)gtC>gtT	p.V2603V	ZZEF1_uc002fxg.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2603							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTAGTCCCGGACAGCCCTCT	0.627000														35			26		0	0	0.004656	0	0
PRDM5	11107	broad.mit.edu	37	4	121774692	121774692	+	Missense_Mutation	SNP	G	A	A	rs142855444		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:121774692G>A	uc003idn.3	-	2	431	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	PRDM5_uc003ido.3_Missense_Mutation_p.R61C|PRDM5_uc010ine.3_Missense_Mutation_p.R61C|PRDM5_uc010inf.3_Missense_Mutation_p.R61C|PRDM5_uc003idp.1_Missense_Mutation_p.R61C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	61	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACTCCCACGAACCTGAAAC	0.423000														173			100		0	0	0.014410	0	0
LPPR3	79948	broad.mit.edu	37	19	815758	815758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:815758G>A	uc002lpw.1	-	2	233	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.R57C|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	57						integral to membrane	phosphatidate phosphatase activity										GAGAGAGTGCGGTCATAGCAC	0.617000														15			12		0	0	0.013537	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876337	125876337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:125876337C>T	uc003eim.1	-	3	567	c.377G>A	c.(376-378)gGa>gAa	p.G126E	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G152E|ALDH1L1_uc003eip.1_Missense_Mutation_p.G35E|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	126	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G126*(1)|p.H125H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTTCTTATCTCCGTGAATGAG	0.592000														54			38		0	0	0.010771	0	0
C3orf25	90288	broad.mit.edu	37	3	129134234	129134234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:129134234G>A	uc003emg.3	-	3	855	c.692C>T	c.(691-693)cCt>cTt	p.P231L		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GTTCTTCAGAGGGACTCCGAC	0.537000														19			11		0	0	0.008291	0	0
HOXD4	3233	broad.mit.edu	37	2	177017652	177017652	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:177017652G>A	uc002uks.3	+	1	999	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACCACCACACGGACCTGACGA	0.622000														33			32		0	0	0.004878	0	0
C5orf42	65250	broad.mit.edu	37	5	37169169	37169169	+	Silent	SNP	T	C	C	rs143147192	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:37169169T>C	uc011cpa.1	-	33	7188	c.6957A>G	c.(6955-6957)caA>caG	p.Q2319Q	C5orf42_uc011coy.1_Silent_p.Q819Q|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.Q1394Q|C5orf42_uc003jkr.1_Silent_p.Q352Q	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2319										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTCCAACATATTGATCCAAGT	0.373000														125			4		0	0	0.009096	0	0
RP1	6101	broad.mit.edu	37	8	55541537	55541537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:55541537G>A	uc003xsd.1	+	3	5243	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1699					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)			ATTCCAGGAGGAAAGACAAGA	0.408000														96			47		0	0	0.014410	0	0
CACNA1D	776	broad.mit.edu	37	3	53736796	53736796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:53736796C>T	uc003dgv.4	+	8	1512	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	CACNA1D_uc003dgu.4_Missense_Mutation_p.P450L|CACNA1D_uc003dgy.4_Missense_Mutation_p.P450L|CACNA1D_uc003dgw.4_Missense_Mutation_p.P97L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	450					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GACATCGATCCGGAGAATGAG	0.542000														28			16		0	0	0.006122	0	0
MUC6	4588	broad.mit.edu	37	11	1017189	1017189	+	Missense_Mutation	SNP	G	A	A	rs71472140		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:1017189G>A	uc001lsw.2	-	30	5663	c.5612C>T	c.(5611-5613)tCa>tTa	p.S1871L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1871	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S1871*(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTTGGCATTGAGTGGATGGA	0.572000														354			41		0	0	0.014410	0	0
NETO1	81832	broad.mit.edu	37	18	70451104	70451104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:70451104G>A	uc002lkw.3	-	6	961	c.677C>T	c.(676-678)tCa>tTa	p.S226L	NETO1_uc002lky.2_Missense_Mutation_p.S226L	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	226	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCACTCATTTGAATTCTGCAT	0.348000														98			54		0	0	0.014410	0	0
FIGF	2277	broad.mit.edu	37	X	15373285	15373286	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:15373285_15373286GG>AA	uc004cwt.2	-	3	1094_1095	c.627_628CC>TT	c.(625-630)atccct>atTTct	p.P210S	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	210					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TCTTCTTCAGGGATCTGGATGG	0.386000														92			37		0	0	0.004672	0	0
ICA1	3382	broad.mit.edu	37	7	8268266	8268266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:8268266G>A	uc003sro.4	-	3	357	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ICA1_uc010ktr.3_Missense_Mutation_p.S74L|ICA1_uc003srm.3_Missense_Mutation_p.S74L|ICA1_uc003srn.4_5'UTR|ICA1_uc003srq.3_Missense_Mutation_p.S74L|ICA1_uc003srr.3_Missense_Mutation_p.S73L|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.S74L	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	74	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AATTGCTTTCGATAAGTCCAG	0.294000														33			10		0	0	0.002450	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319931	21319931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:21319931C>T	uc021tss.1	+	2	1647	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	KCNJ18_uc002gyv.1_Missense_Mutation_p.P426L|KCNJ18_uc021tst.1_Missense_Mutation_p.P426L	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	426						integral to membrane	inward rectifier potassium channel activity										GAGCAGCGGCCCTACAGACGG	0.701000														29			4		0	0	0.001168	0	0
GPRIN3	285513	broad.mit.edu	37	4	90171259	90171259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:90171259C>T	uc003hsm.1	-	1	522	c.3G>A	c.(1-3)atG>atA	p.M1I	GPRIN3_uc021xqb.1_Missense_Mutation_p.M1I	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	1										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GTACAGTCCCCATGGAATTTC	0.552000														73			44		0	0	0.014410	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27158942	27158943	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27158942_27158943CC>TT	uc001bnb.3	+	1	435_436	c.340_341CC>TT	c.(340-342)ccc>TTc	p.P114F	BC016143_uc021ojq.1_Intron|ZDHHC18_uc010ofh.1_5'UTR	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	114						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TTCTAGCTGTCCCTACCTGGCT	0.589000														146			79		0	0	0.004672	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931579	155931579	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:155931579G>T	uc001fmu.2	-	14	1728	c.1473C>A	c.(1471-1473)aaC>aaA	p.N491K	ARHGEF2_uc001fmr.2_Missense_Mutation_p.N419K|ARHGEF2_uc001fms.2_Missense_Mutation_p.N446K|ARHGEF2_uc001fmt.2_Missense_Mutation_p.N447K|ARHGEF2_uc010pgt.1_Missense_Mutation_p.N420K|ARHGEF2_uc010pgu.1_Missense_Mutation_p.N492K	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	447	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCCATGCGGTTGTAGATCT	0.597000														43			19		4.35082e-09	4.46975e-09	0.010504	1	0
FAF1	11124	broad.mit.edu	37	1	51425473	51425473	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:51425473T>C	uc001cse.1	-	0	464	c.11A>G	c.(10-12)aAc>aGc	p.N4S	FAF1_uc009vyw.1_Non-coding_Transcript	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	4					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(10)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCGGTCCATGTTGGACGCCAT	0.677000														30			14		0	0	0.006122	0	0
PTPRU	10076	broad.mit.edu	37	1	29611349	29611349	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:29611349C>T	uc001bru.3	+	13	2415	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	PTPRU_uc009vtq.3_Silent_p.L762L|PTPRU_uc009vtr.3_Silent_p.L762L|PTPRU_uc001brw.3_Silent_p.L762L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	762					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCATCCTTCTCCTGGGTGCCA	0.607000														26			24		0	0	0.003330	0	0
AGMO	392636	broad.mit.edu	37	7	15427080	15427080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:15427080C>T	uc003stb.1	-	8	1078	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	303					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGGACCCCATCCCGGTCCCTT	0.393000														139			46		0	0	0.013114	0	0
EVPL	2125	broad.mit.edu	37	17	74005391	74005391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:74005391C>T	uc010wss.1	-	21	4189	c.3961G>A	c.(3961-3963)Gac>Aac	p.D1321N	EVPL_uc002jqi.2_Missense_Mutation_p.D1299N|EVPL_uc010wst.1_Missense_Mutation_p.D769N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1299	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCACTCGTCGCGCTCACCC	0.662000														128			64		0	0	0.014410	0	0
GALNT3	2591	broad.mit.edu	37	2	166611212	166611212	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:166611212A>G	uc010fph.1	-	8	1938	c.1551T>C	c.(1549-1551)tgT>tgC	p.C517C		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	517	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CAACATCCAGACATAGAGGCT	0.318000														7			17		0	0	0.007413	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433852	67433852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:67433852G>A	uc001omr.3	-	4	611	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ALDH3B2_uc001oms.3_Missense_Mutation_p.P58S|ALDH3B2_uc009ysa.1_Missense_Mutation_p.P58S	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	58					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.P58S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ATTTCTGACGGCTTCAGCACC	0.672000														6			4		0	0	0.009096	0	0
USP20	10868	broad.mit.edu	37	9	132641905	132641905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:132641905C>T	uc004bys.2	+	23	2777	c.2566C>T	c.(2566-2568)Cat>Tat	p.H856Y	USP20_uc004byr.2_Missense_Mutation_p.H856Y|USP20_uc004byt.1_Missense_Mutation_p.H856Y	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	856	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGGAAGCGGCCATGTCCAGCT	0.657000														26			35		0	0	0.003755	0	0
ALMS1	7840	broad.mit.edu	37	2	73675962	73675962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:73675962C>T	uc002sje.1	+	7	2416	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	ALMS1_uc002sjf.1_Missense_Mutation_p.P727S|ALMS1_uc002sjg.3_Missense_Mutation_p.P157S|ALMS1_uc002sjh.1_Missense_Mutation_p.P157S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	769	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGAAAAGCCTAGTATTTT	0.468000														170			73		0	0	0.014410	0	0
IBSP	3381	broad.mit.edu	37	4	88732577	88732577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:88732577G>A	uc003hqx.4	+	6	567	c.469G>A	c.(469-471)Gag>Aag	p.E157K		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	157	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		agaggaggaagaggaaggaaa	0.428000														23			8		0	0	0.003080	0	0
SCN7A	6332	broad.mit.edu	37	2	167334152	167334152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:167334152C>T	uc002udu.2	-	1	185	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	SCN7A_uc010fpm.2_Non-coding_Transcript|SCN7A_uc002udv.1_Missense_Mutation_p.E19K	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	19					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTATAAGTTCAAAAGACTCT	0.358000														8			4		0	0	0.000602	0	0
GCAT	23464	broad.mit.edu	37	22	38211288	38211288	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:38211288G>A	uc003aua.2	+	5	872	c.809_splice	c.e5+1	p.R270_splice	GCAT_uc003atz.3_Splice_Site_p.R244_splice	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	244					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCACAGGACGGTGGGACCATG	0.622000														20			15		0	0	0.006122	0	0
CEP112	201134	broad.mit.edu	37	17	63898308	63898308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:63898308C>T	uc002jfl.3	-	19	2344	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	CEP112_uc010deo.3_Missense_Mutation_p.E451K|CEP112_uc002jfm.3_Missense_Mutation_p.E709K|CEP112_uc010dep.2_Missense_Mutation_p.E667K	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	709						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTTGATTTTCGTGCTCCATA	0.388000														50			15		0	0	0.004007	0	0
LARP6	55323	broad.mit.edu	37	15	71124496	71124496	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:71124496C>T	uc002ass.3	-	2	1442	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	457					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CAGTCTGCATCTTCCGGGAGA	0.647000														124			26		0	0	0.013726	0	0
AQP8	343	broad.mit.edu	37	16	25232823	25232823	+	Silent	SNP	C	T	T	rs148689630	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:25232823C>T	uc002doc.3	+	2	388	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	102					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)		CCATGCTGATCGGAGGCCTCA	0.632000														79			40		0	0	0.007835	0	0
IREB2	3658	broad.mit.edu	37	15	78764257	78764257	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:78764257C>T	uc002bdr.2	+	6	1036	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	IREB2_uc010unb.1_Silent_p.L42L|IREB2_uc002bdq.3_Silent_p.L292L	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	292							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTAGGGATTCTGGGGTGGGG	0.368000														60			17		0	0	0.006122	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553530	140553530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140553530G>A	uc003lit.3	+	0	1288	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	372	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468000														29			22		0	0	0.010504	0	0
LMBR1	64327	broad.mit.edu	37	7	156480835	156480835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:156480835C>T	uc010lqn.3	-	16	1614	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	LMBR1_uc003wmv.4_Intron|LMBR1_uc003wmw.4_Missense_Mutation_p.G426R|LMBR1_uc003wmx.4_Missense_Mutation_p.G274R|LMBR1_uc011kvx.2_Intron	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	426						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TAGAAATTTCCCAGCCAATTA	0.333000														55			55		0	0	0.014410	0	0
TTC13	79573	broad.mit.edu	37	1	231056273	231056274	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:231056273_231056274GG>AA	uc001huf.4	-	16	2007_2008	c.1965_1966CC>TT	c.(1963-1968)gacctt>gaTTtt	p.L656F	TTC13_uc001hug.4_Missense_Mutation_p.L603F|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.L546F	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	656							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATCGGAAGAAGGTCTTCTACTT	0.386000														62			28		0	0	0.004672	0	0
SAGE1	55511	broad.mit.edu	37	X	134983803	134983803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:134983803C>T	uc004ezh.3	+	2	340	c.173C>T	c.(172-174)tCa>tTa	p.S58L	SAGE1_uc010nry.1_Missense_Mutation_p.S58L|SAGE1_uc011mvv.2_Missense_Mutation_p.S58L	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	58										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGACACTCTTCATCTAAGAGA	0.418000														132			106		0	0	0.014410	0	0
MYH13	8735	broad.mit.edu	37	17	10243706	10243706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10243706C>T	uc002gmk.1	-	16	1997	c.1907G>A	c.(1906-1908)gGa>gAa	p.G636E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	636	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.G635*(1)|p.G636G(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCTTGCTTCCTCCGGAGTC	0.557000														29			20		0	0	0.007413	0	0
PELI2	57161	broad.mit.edu	37	14	56757086	56757087	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:56757086_56757087CC>TT	uc001xch.3	+	4	894_895	c.608_609CC>TT	c.(607-609)tcc>tTT	p.S203F		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	203					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ACCGAGGAGTCCCAGCCCGGGG	0.589000														75			27		0	0	0.004672	0	0
LARGE	9215	broad.mit.edu	37	22	33777977	33777977	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:33777977G>A	uc003and.4	-	9	1638	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	LARGE_uc011amd.2_Silent_p.P152P|LARGE_uc003ane.4_Silent_p.P353P|LARGE_uc010gwp.3_Silent_p.P353P|LARGE_uc011ame.2_Silent_p.P285P|LARGE_uc011amf.2_Silent_p.P353P|LARGE_uc010gwq.1_Non-coding_Transcript	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	353					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCAGAAGCAGGGGAGCTGGT	0.522000														69			37		0	0	0.004878	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590809	141590809	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:141590809G>A	uc010ioj.3	-	7	1688	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	472						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGAACTCCTCGGGAGACCGCC	0.473000														19			15		0	0	0.002450	0	0
KCND2	3751	broad.mit.edu	37	7	119915728	119915728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:119915728G>A	uc003vjj.1	+	0	2007	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	348					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGCAGAGAAGGGGTCTTCGGC	0.493000														105			45		0	0	0.013114	0	0
UPK3B	80761	broad.mit.edu	37	7	76144563	76144563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:76144563G>A	uc003ufq.3	+	3	1183	c.958G>A	c.(958-960)Gag>Aag	p.E320K	UPK3B_uc003ufo.3_3'UTR|UPK3B_uc010ldk.1_Missense_Mutation_p.E265K	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	320					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGGGCGCTGGGAGTGAGTGCA	0.687000														8			4		0	0	0.009096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239924	5239924	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:5239924G>A	uc003jdl.3	+	15	2547	c.2409G>A	c.(2407-2409)gtG>gtA	p.V803V	ADAMTS16_uc003jdk.1_Silent_p.V803V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	803	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTGGACCGTGGACTGGCCCG	0.522000														82			42		0	0	0.010771	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100199	121100199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:121100199G>A	uc003eec.4	+	22	2619	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	STXBP5L_uc011bji.2_Missense_Mutation_p.D803N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	827					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TATTGACAAAGATTCTAAAGA	0.363000														92			68		0	0	0.014410	0	0
HSD17B10	3028	broad.mit.edu	37	X	53460832	53460832	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:53460832C>T	uc004dsl.1	-	2	59	c.28_splice	c.e2-1	p.G10_splice	HSD17B10_uc004dsm.1_Splice_Site_p.G10_splice	NM_004493	NP_004484	Q99714	HCD2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	10					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CGCCACCAGGCCCTGTCAAAA	0.647000														24			17		0	0	0.007413	0	0
TMEM246	84302	broad.mit.edu	37	9	104238339	104238339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:104238339G>A	uc004bbm.3	-	1	1358	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.R346W	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	346						integral to membrane											GTGAGGGTCCGGCGGGCCGCA	0.612000														9			18		0	0	0.006122	0	0
ABCC6	368	broad.mit.edu	37	16	16272784	16272784	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:16272784G>A	uc002den.4	-	17	2323	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	762	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCCGGGCCAGGCTCAGCCGCT	0.607000														37			12		0	0	0.013537	0	0
DRP2	1821	broad.mit.edu	37	X	100503576	100503576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:100503576G>A	uc004egz.2	+	13	1897	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	DRP2_uc011mrh.1_Missense_Mutation_p.E432K	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	510					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAGTGAAGGAAAAACTTCA	0.468000														184			104		0	0	0.014410	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761935	92761935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:92761935G>A	uc003umh.1	-	4	4566	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1117F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1117F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1117										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAATATAGGAATTTTTAGG	0.383000														116			101		0	0	0.014410	0	0
DAZL	1618	broad.mit.edu	37	3	16635245	16635245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:16635245C>T	uc003cba.3	-	8	1000	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	DAZL_uc003cbb.3_Missense_Mutation_p.E218K	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	218					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GGATCAACTTCATTACAGTGG	0.343000														22			16		0	0	0.006122	0	0
SPTB	6710	broad.mit.edu	37	14	65252492	65252492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:65252492C>T	uc001xht.3	-	15	3790	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	SPTB_uc001xhr.3_Missense_Mutation_p.E1247K|SPTB_uc001xhs.3_Missense_Mutation_p.E1247K|SPTB_uc001xhu.3_Missense_Mutation_p.E1247K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1247					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCACCTTCTCCTTGATCTTG	0.577000														160			89		0	0	0.014410	0	0
NGB	58157	broad.mit.edu	37	14	77732890	77732890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:77732890C>T	uc001xtg.1	-	3	820	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Homo sapiens neuroglobin (NGB), mRNA.	149	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		TACTCGCCATCCCAGCCTCGA	0.637000														50			25		0	0	0.006320	0	0
RADIL	55698	broad.mit.edu	37	7	4855859	4855859	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:4855859C>T	uc003snj.1	-	8	2139	c.1966_splice	c.e8+1	p.G656_splice	RADIL_uc003sng.1_Splice_Site|RADIL_uc003sni.1_Splice_Site_p.G161_splice|RADIL_uc011jwc.1_Splice_Site_p.G416_splice|RADIL_uc011jwd.1_Splice_Site	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	656	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCCCTCACCCCTGTCGAGG	0.672000														47			19		0	0	0.007413	0	0
GLRA1	2741	broad.mit.edu	37	5	151208544	151208544	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:151208544T>C	uc003lut.3	-	7	1284	c.997A>G	c.(997-999)Aac>Gac	p.N333D	GLRA1_uc003lur.3_Missense_Mutation_p.N333D|GLRA1_uc003lus.3_Missense_Mutation_p.N250D	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	333					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACACAAAGTTAACGGCAGCA	0.507000														132			73		0	0	0.014410	0	0
SHANK1	50944	broad.mit.edu	37	19	51190034	51190035	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51190034_51190035CC>TT	uc002psx.1	-	18	2443_2444	c.2424_2425GG>AA	c.(2422-2427)atggag>atAAag	p.808_809ME>IK	SHANK1_uc002psw.1_Missense_Mutation_p.192_193ME>IK	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	808					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCTTTTTCTCCATGCTGGGCA	0.703000														35			18		0	0	0.004672	0	0
OR8S1	341568	broad.mit.edu	37	12	48920064	48920064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:48920064C>T	uc010slu.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	217					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						GTCTTCTTATCCTACACCCGT	0.532000														68			29		0	0	0.007291	0	0
ZNF423	23090	broad.mit.edu	37	16	49670602	49670603	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:49670602_49670603GG>AA	uc002efs.3	-	4	2758_2759	c.2460_2461CC>TT	c.(2458-2463)atcctg>atTTtg	p.820_821IL>IL	ZNF423_uc010vgn.2_Silent_p.703_704IL>IL	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	820					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L821L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCTCCAGCAGGATGATGGCGT	0.569000														12			15		0	0	0.004672	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350382	51350382	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:51350382A>T	uc001zyy.3	-	2	675	c.575T>A	c.(574-576)aTt>aAt	p.I192N		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	192										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CTTCTCCACAATAACCAGCTC	0.478000														69			41		0	0	0.006999	0	0
SDK1	221935	broad.mit.edu	37	7	4185359	4185359	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:4185359C>T	uc003smx.3	+	28	4373	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	SDK1_uc010kso.3_Nonsense_Mutation_p.Q688*|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1412	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGGGTACCAGATTGCCTA	0.672000														87			23		0	0	0.014323	0	0
OR4C46	119749	broad.mit.edu	37	11	51515496	51515496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:51515496C>T	uc010ric.2	+	0	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTGCTATTCCTCTGTCAAT	0.473000														143			68		0	0	0.014410	0	0
SPHK1	8877	broad.mit.edu	37	17	74383547	74383547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:74383547G>A	uc002jrj.2	+	5	1790	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	SPHK1_uc002jrf.1_Missense_Mutation_p.M345I|SPHK1_uc002jrg.1_Missense_Mutation_p.M294I|SPHK1_uc002jrh.2_Missense_Mutation_p.M359I|SPHK1_uc002jri.2_Missense_Mutation_p.M345I|SPHK1_uc002jrk.3_Missense_Mutation_p.M345I	NM_182965	NP_001136074	Q9NYA1	SPHK1_HUMAN	Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.	345					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GGGAATTGATGGTTAGCGAGG	0.597000														32			13		0	0	0.002450	0	0
TRIM24	8805	broad.mit.edu	37	7	138255744	138255744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:138255744C>T	uc003vuc.3	+	10	2089	c.1874C>T	c.(1873-1875)cCg>cTg	p.P625L	TRIM24_uc003vub.3_Missense_Mutation_p.P591L|TRIM24_uc022amn.1_Missense_Mutation_p.P549L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	625					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.P625L(2)|p.P591L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCCTCTCTTCCGGATGTAAGT	0.473000														115			120		0	0	0.014410	0	0
NCL	4691	broad.mit.edu	37	2	232326725	232326725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:232326725C>T	uc002vru.3	-	2	280	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	47					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGAGGTATGACGACCTTGAGA	0.473000														48			47		0	0	0.014410	0	0
CACNA1A	773	broad.mit.edu	37	19	13476136	13476136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:13476136C>T	uc002mwy.3	-	4	1015	c.779G>A	c.(778-780)gGg>gAg	p.G260E	CACNA1A_uc010xnd.2_Missense_Mutation_p.G260E|CACNA1A_uc021ups.1_Missense_Mutation_p.G260E|CACNA1A_uc010xne.2_Missense_Mutation_p.G260E|CACNA1A_uc010dze.2_Missense_Mutation_p.G260E|CACNA1A_uc021upt.1_Missense_Mutation_p.G260E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	260					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTACCTGTCCCCTCTTCAAA	0.458000														66			58		0	0	0.014410	0	0
DPF3	8110	broad.mit.edu	37	14	73141062	73141062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:73141062C>T	uc001xnc.2	-	7	770	c.757G>A	c.(757-759)Gat>Aat	p.D253N	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.D253N|DPF3_uc010ttq.1_Missense_Mutation_p.D263N	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	253					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACTGTTCCATCCGGTCCTTTC	0.493000														17			6		0	0	0.001168	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954283	75954283	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:75954283G>A	uc003kek.3	+	21	2543	c.2321_splice	c.e21-1	p.V774_splice	IQGAP2_uc010izv.2_Splice_Site_p.V327_splice|IQGAP2_uc011csv.2_Splice_Site_p.V270_splice|IQGAP2_uc003kel.3_Splice_Site_p.V270_splice	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	774	IQ 3.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGTCACTGCAGTTGGCTCTGA	0.368000														66			43		0	0	0.013114	0	0
TMC5	79838	broad.mit.edu	37	16	19451869	19451869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:19451869C>T	uc002dgc.4	+	2	1258	c.509C>T	c.(508-510)tCt>tTt	p.S170F	TMC5_uc010vaq.2_Missense_Mutation_p.S170F|TMC5_uc002dgb.4_Missense_Mutation_p.S170F|TMC5_uc010var.2_Missense_Mutation_p.S170F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	170						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						CAGAGCAACTCTGATCATCCT	0.483000														148			64		0	0	0.014410	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913440	77913440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:77913440C>T	uc022bzi.1	-	0	478	c.478G>A	c.(478-480)Gat>Aat	p.D160N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D160N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	160	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGGGGGATCCTGGGGTTCT	0.562000														50			28		0	0	0.006320	0	0
ANKLE1	126549	broad.mit.edu	37	19	17396327	17396327	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:17396327C>T	uc010xpn.1	+	6	1662	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.G488G|ANKLE1_uc010eao.1_Silent_p.G484G|ANKLE1_uc002nfy.2_Silent_p.G451G|ANKLE1_uc002nfz.2_Silent_p.G194G			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	488						nuclear envelope		p.G488G(1)|p.G448G(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTACGTGGGCAAAGGGACGA	0.612000														104			54		0	0	0.014410	0	0
TH	7054	broad.mit.edu	37	11	2186909	2186909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:2186909C>T	uc001lvq.3	-	11	1301	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	TH_uc001lvp.3_Missense_Mutation_p.G424R|TH_uc001lvr.3_Missense_Mutation_p.G397R|TH_uc010qxj.2_Missense_Mutation_p.G401R|TH_uc001lvs.3_Missense_Mutation_p.G303R|TH_uc001lvt.3_Missense_Mutation_p.G307R|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	428					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.G428W(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGAGCTCCCCGTAGGAGGAC	0.667000														19			7		0	0	0.004482	0	0
NYAP1	222950	broad.mit.edu	37	7	100091298	100091298	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100091298C>T	uc003uvd.1	+	6	2457	c.2298C>T	c.(2296-2298)ccC>ccT	p.P766P	NYAP1_uc003uve.1_Silent_p.P549P	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	766																	TGCCTCTGCCCCTGCCGCCCC	0.731000														4			17		0	0	0.006122	0	0
NEB	4703	broad.mit.edu	37	2	152507370	152507370	+	Silent	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:152507370T>C	uc021vrb.1	-	50	6974	c.6945A>G	c.(6943-6945)caA>caG	p.Q2315Q	NEB_uc002txu.3_Silent_p.Q2315Q|NEB_uc021vrc.1_Silent_p.Q2315Q|NEB_uc010fnx.3_Silent_p.Q2315Q|NEB_uc021vrd.1_Silent_p.Q2315Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2315					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGGCCAAGTTGCTTTCGGT	0.398000														48			70		0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149213137	149213137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149213137G>A	uc003lrc.3	+	4	1592	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	PPARGC1B_uc003lrb.2_Missense_Mutation_p.E501K|PPARGC1B_uc003lrd.3_Missense_Mutation_p.E462K|PPARGC1B_uc021yfr.1_Missense_Mutation_p.E437K|PPARGC1B_uc003lre.1_Missense_Mutation_p.E480K|PPARGC1B_uc003lrf.3_Missense_Mutation_p.E480K	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	501					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGTCCCCTCGGAGCCCCAAGG	0.662000														8			3		0	0	0.000602	0	0
PTGER1	5731	broad.mit.edu	37	19	14583574	14583574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:14583574G>A	uc002mys.3	-	2	1125	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_000955	NP_000946	P34995	PE2R1_HUMAN	Homo sapiens prostaglandin E receptor 1 (subtype EP1), 42kDa (PTGER1), mRNA.	336						integral to plasma membrane	prostaglandin E receptor activity									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	AAGGCGCACGGCCAGGAACAG	0.677000														5			3		0	0	0.004672	0	0
OR6C75	390323	broad.mit.edu	37	12	55759590	55759590	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55759590G>A	uc010spk.2	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGAGTCAAAGGAAAAAAGCCT	0.398000														57			24		0	0	0.003954	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40850783	40850783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:40850783C>T	uc002iay.3	+	23	4226	c.4010C>T	c.(4009-4011)tCa>tTa	p.S1337L	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1337					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACCCACTTCAGGCCCTGCC	0.632000														37			22		0	0	0.003330	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679167	148679167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:148679167G>A	uc003lqh.3	+	1	243	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	AFAP1L1_uc003lqg.4_Missense_Mutation_p.A38T|AFAP1L1_uc010jgy.3_Missense_Mutation_p.A38T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	38							protein binding	p.A38P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGCCGTGGCCTCCATCCT	0.612000														38			18		0	0	0.010504	0	0
HOOK1	51361	broad.mit.edu	37	1	60324130	60324130	+	Missense_Mutation	SNP	G	A	A	rs114487303	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:60324130G>A	uc009wad.3	+	13	1375	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	HOOK1_uc001czo.3_Missense_Mutation_p.E425K|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E383K	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	425	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TACTTTGAAAGAAACAAATGA	0.343000														47			25		0	0	0.003954	0	0
OR8B8	26493	broad.mit.edu	37	11	124310913	124310913	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:124310913G>A	uc010sal.2	-	0	69	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGGGGATCTGGACTCCCGGTT	0.512000														51			17		0	0	0.007413	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611209	17611209	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:17611209G>A	uc002ngu.1	+	7	1379	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	SLC27A1_uc010xpp.1_Silent_p.Q264Q|SLC27A1_uc002ngv.1_Silent_p.Q45Q	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	443	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCCCTGCCAGGCCGGTGAGC	0.692000														34			15		0	0	0.003330	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000														28			5		0	0	0.000602	0	0
FAM22D	728130	broad.mit.edu	37	10	89118113	89118113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:89118113C>T	uc001kes.3	+	0	637	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	FAM22D_uc009xte.1_Missense_Mutation_p.L31F	NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	Homo sapiens family with sequence similarity 22, member D (FAM22D), mRNA.	31										large_intestine(2)|lung(2)	4						GGGTCTTACCCTTGGCTTTTC	0.517000														116			47		0	0	0.014410	0	0
IMPG2	50939	broad.mit.edu	37	3	100964916	100964916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:100964916C>T	uc003duq.2	-	11	1476	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	IMPG2_uc011bhe.2_Missense_Mutation_p.D288N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	425					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATGGATTCATCTGCTGAGGGC	0.423000														69			35		0	0	0.004878	0	0
PRLHR	2834	broad.mit.edu	37	10	120354048	120354048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:120354048G>A	uc001ldp.1	-	1	848	c.709C>T	c.(709-711)Cct>Tct	p.P237S	PRLHR_uc021pzm.1_Missense_Mutation_p.P237S	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	237					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACCAGCAGAGGGAGCAGGTAG	0.687000														1			3		0	0	0.004672	0	0
STK40	83931	broad.mit.edu	37	1	36821031	36821032	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:36821031_36821032GG>AA	uc001cak.1	-	5	752_753	c.345_346CC>TT	c.(343-348)gaccgc>gaTTgc	p.R116C	STK40_uc001cal.1_Missense_Mutation_p.R121C|STK40_uc001cam.1_Missense_Mutation_p.R116C|STK40_uc001can.1_Missense_Mutation_p.R116C	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	116	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TCACAGGTGCGGTCCTGGGAGG	0.584000														88			46		0	0	0.004672	0	0
OR2M5	127059	broad.mit.edu	37	1	248308615	248308615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:248308615C>T	uc010pze.2	+	0	166	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CACCCAGCTCCACACCCCCAT	0.527000														267			125		0	0	0.014410	0	0
CAD	790	broad.mit.edu	37	2	27447254	27447254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:27447254C>T	uc002rji.3	+	8	1312	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	CAD_uc010eyw.3_Missense_Mutation_p.P384S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	384	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.P384P(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGGGATTCCCACTCCCGG	0.572000														66			34		0	0	0.004878	0	0
AK309896	0	broad.mit.edu	37	9	66513886	66513886	+	RNA	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:66513886G>A	uc010mnh.1	-	5		c.862C>T								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		GTCTGCTCTTGGAGCACAGGC	0.493000														102			8		0	0	0.004007	0	0
GPR158	57512	broad.mit.edu	37	10	25886748	25886748	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:25886748G>A	uc001isj.3	+	10	2253	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	GPR158_uc001isk.3_Silent_p.K106K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	731						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R730I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATAAAAGAAAGAAGATGATCA	0.438000														93			34		0	0	0.013726	0	0
ZNF43	7594	broad.mit.edu	37	19	21991700	21991700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:21991700C>T	uc002nqj.3	-	3	1269	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	ZNF43_uc002nql.3_Missense_Mutation_p.S374N|ZNF43_uc002nqm.3_Missense_Mutation_p.S374N|ZNF43_uc010ecv.3_Missense_Mutation_p.S374N|ZNF43_uc002nqk.3_Missense_Mutation_p.S310N	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F379F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGAGGACCGGCTAAAAGCTTC	0.368000														50			22		0	0	0.012319	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301461	117301461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:117301461G>A	uc001prh.1	-	31	5845	c.5843C>T	c.(5842-5844)cCc>cTc	p.P1948L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1888					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGAGGGATGGGCACAGCCAC	0.652000														76			44		0	0	0.014410	0	0
FGD2	221472	broad.mit.edu	37	6	36976693	36976693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:36976693C>T	uc010jwp.1	+	1	323	c.152C>T	c.(151-153)cCa>cTa	p.P51L	FGD2_uc003onf.3_Missense_Mutation_p.P51L|FGD2_uc011dtu.1_Missense_Mutation_p.P51L|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	51					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCCCAGGACCACGGGAGAAG	0.632000														48			61		0	0	0.014410	0	0
EZH2	2146	broad.mit.edu	37	7	148508728	148508728	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:148508728A>T	uc003wfd.2	-	15	2114	c.1921T>A	c.(1921-1923)Tac>Aac	p.Y641N	EZH2_uc022aov.1_Missense_Mutation_p.Y560N|EZH2_uc011kug.2_Missense_Mutation_p.Y590N|EZH2_uc003wfb.2_Missense_Mutation_p.Y646N|EZH2_uc003wfc.2_Missense_Mutation_p.Y602N|EZH2_uc011kuh.2_Missense_Mutation_p.Y632N	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	641	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Y646N(51)|p.Y646H(19)|p.Y602N(14)|p.Y602H(6)|p.N640K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCCACAGTATTCTGAGATG	0.383000			Mis		DLBCL									43			31		0	0	0.009535	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212592	50212592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:50212592C>T	uc001zxu.3	-	17	1916	c.1774G>A	c.(1774-1776)Ggc>Agc	p.G592S	ATP8B4_uc010ber.3_Missense_Mutation_p.G465S|ATP8B4_uc010ufd.2_Missense_Mutation_p.G402S|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	592					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)		GTCCGAAGGCCTTCCCCTGCA	0.423000														37			21		0	0	0.008871	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782538	115782538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:115782538C>T	uc003krx.4	-	19	3624	c.2915G>A	c.(2914-2916)aGg>aAg	p.R972K	SEMA6A_uc010jck.3_Missense_Mutation_p.R955K|SEMA6A_uc011cwe.2_Missense_Mutation_p.R334K|SEMA6A_uc003krv.4_Missense_Mutation_p.R382K|SEMA6A_uc003krw.4_Missense_Mutation_p.R432K|SEMA6A_uc010jcj.3_Missense_Mutation_p.R499K	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	955					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTTGTCTCCCCTGCCAAAGCT	0.612000														16			13		0	0	0.002450	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330138	8330138	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:8330138C>T	uc001qud.1	+	4	934	c.862C>T	c.(862-864)Cta>Tta	p.L288L	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L288Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGCTTGTCTTCTATGTGGGAA	0.418000														66			38		0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40433797	40433797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:40433797C>T	uc002omp.4	-	1	480	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	158	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGCAAACTCCTTGACATTC	0.612000														49			28		0	0	0.006320	0	0
BPIFA2	140683	broad.mit.edu	37	20	31767457	31767457	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:31767457C>T	uc002wyo.1	+	6	764	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	231						extracellular region	lipid binding										ATGTGAATGTCATTCAGCAGG	0.552000														65			48		0	0	0.014410	0	0
BEST1	7439	broad.mit.edu	37	11	61727006	61727006	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:61727006G>C	uc001nsr.2	+	6	1296	c.724G>C	c.(724-726)Gat>Cat	p.D242H	BEST1_uc010rlq.1_Missense_Mutation_p.M309I|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Missense_Mutation_p.D302H|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Missense_Mutation_p.D242H|BEST1_uc001nst.3_Intron|BEST1_uc010rlu.1_Missense_Mutation_p.M263I|BEST1_uc010rlv.2_Missense_Mutation_p.D196H	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	302			V -> M (in VMD2; late-onset of visual disturbance).		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						TGGAGAGGATGATGATGATTT	0.522000														30			13		0	0	0.003163	0	0
TF	7018	broad.mit.edu	37	3	133472515	133472515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:133472515C>T	uc003epu.2	+	7	2021	c.293C>T	c.(292-294)cCt>cTt	p.P98L	TF_uc011bls.1_Missense_Mutation_p.P98L|TF_uc011blt.2_5'UTR|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.P98L	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	98	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AACCTGAAGCCTGTGGTGGCA	0.498000														72			39		0	0	0.011902	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063188	48063188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:48063188C>T	uc010bek.3	+	18	2788	c.2428C>T	c.(2428-2430)Ccg>Tcg	p.P810S	SEMA6D_uc001zvw.3_Missense_Mutation_p.P748S|SEMA6D_uc001zvy.3_Missense_Mutation_p.P810S|SEMA6D_uc001zvz.3_Missense_Mutation_p.P754S|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.P748S|SEMA6D_uc001zwc.3_Missense_Mutation_p.P735S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	810					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.P810P(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGTTTTTTCCGTCTAGTCC	0.502000														81			38		0	0	0.005524	0	0
CLIC6	54102	broad.mit.edu	37	21	36043035	36043035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:36043035G>A	uc010gmt.1	+	0	1348	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	CLIC6_uc002yuf.1_Missense_Mutation_p.E450K	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	450						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CCTGGGGCAGGAGCACGACAT	0.677000														13			3		0	0	0.004672	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880513	89880513	+	Silent	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:89880513T>C	uc001pdf.4	+	2	319	c.210T>C	c.(208-210)ctT>ctC	p.L70L	NAALAD2_uc009yvx.3_Silent_p.L70L|NAALAD2_uc009yvy.3_Silent_p.L70L|NAALAD2_uc001pdd.2_Silent_p.L70L|NAALAD2_uc001pde.3_Silent_p.L70L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	70					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTACAAAGCTTCCTCATCTGG	0.363000														33			26		0	0	0.003954	0	0
ZNF28	7576	broad.mit.edu	37	19	53303783	53303783	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:53303783A>T	uc002qad.3	-	3	1472	c.1315T>A	c.(1315-1317)Tac>Aac	p.Y439N	ZNF28_uc002qac.3_Missense_Mutation_p.Y385N|ZNF28_uc010eqe.3_Missense_Mutation_p.Y385N|ZNF28_uc021uza.1_Missense_Mutation_p.Y386N	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTACACTTGTAAGGCTTCTCT	0.368000														119			57		0	0	0.014410	0	0
N4BP1	9683	broad.mit.edu	37	16	48595073	48595073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:48595073G>A	uc002efp.3	-	1	1718	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	494					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GGCAACAGAAGGTGAAAGGCC	0.428000														29			36		0	0	0.003755	0	0
KLHL14	57565	broad.mit.edu	37	18	30349751	30349751	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:30349751G>A	uc002kxm.1	-	1	1192	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	268	BACK.					cytosol|endoplasmic reticulum membrane		p.A267A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCGGGATGAGGGCGAAGC	0.647000														44			31		0	0	0.003271	0	0
SYNE1	23345	broad.mit.edu	37	6	152792854	152792854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:152792854C>T	uc021zhb.1	-	13	1733	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	SYNE1_uc003qot.4_Missense_Mutation_p.E511K|SYNE1_uc003qou.4_Missense_Mutation_p.E504K|SYNE1_uc010kjb.1_Missense_Mutation_p.E487K|SYNE1_uc003qpa.1_Missense_Mutation_p.E504K|SYNE1_uc003qox.1_Missense_Mutation_p.E20K|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Missense_Mutation_p.E71K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	504					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAAAAATTCCATTTTCATT	0.378000										HNSCC(10;0.0054)				30			33		0	0	0.003755	0	0
MARCH4	57574	broad.mit.edu	37	2	217124116	217124116	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:217124116G>A	uc002vgb.3	-	3	2919	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	384						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGTGACTCAGGATGTGCAGGA	0.637000														20			32		0	0	0.013726	0	0
PRH2	5555	broad.mit.edu	37	12	11081834	11081834	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:11081834C>T	uc009zhr.3	+	1	1	c.-38_splice	c.e1-1		PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.3_Splice_Site|PRH2_uc001qzi.4_Splice_Site	NM_001110213	NP_005033	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 2 (PRH2), transcript variant 2, mRNA.							extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						ACGTTTCTCCCAGCATAAAGT	0.537000														29			22		0	0	0.002780	0	0
PALLD	23022	broad.mit.edu	37	4	169812091	169812091	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:169812091C>T	uc011cjx.2	+	10	2194	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.A661A|PALLD_uc003irv.3_Silent_p.A279A|PALLD_uc003irw.3_Silent_p.A174A	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	885	Interaction with LASP1 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAAAGAAGGCCAGTAGAACTG	0.433000									Pancreatic Cancer, Familial Clustering of					53			43		0	0	0.011902	0	0
MMP14	4323	broad.mit.edu	37	14	23315025	23315025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:23315025C>T	uc001whc.3	+	9	1760	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	509						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ATGGGCTGCCCATCGGGAGGC	0.612000														46			36		0	0	0.003271	0	0
DACT1	51339	broad.mit.edu	37	14	59112267	59112267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:59112267C>T	uc001xdw.3	+	3	1090	c.926C>T	c.(925-927)tCt>tTt	p.S309F	DACT1_uc010trv.2_Missense_Mutation_p.S28F|DACT1_uc001xdx.3_Missense_Mutation_p.S272F|DACT1_uc010trw.2_Missense_Mutation_p.S28F	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	309					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGCGGTGGATCTGAGCTAGAT	0.522000														42			20		0	0	0.014323	0	0
USP11	8237	broad.mit.edu	37	X	47102899	47102899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:47102899C>T	uc004dhp.3	+	12	1817	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	USP11_uc004dhq.3_Missense_Mutation_p.S333F	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	606					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TACAACAACTCCTACTACGGC	0.597000														37			32		0	0	0.010818	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29480920	29480920	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29480920A>G	uc002kxc.4	-	9	1822	c.1458T>C	c.(1456-1458)gaT>gaC	p.D486D	TRAPPC8_uc002kxb.4_Silent_p.D432D|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Silent_p.D486D|TRAPPC8_uc002kxe.2_Silent_p.D486D	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	486					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAATTGCTGTATCCATGTAAT	0.338000														52			27		0	0	0.008361	0	0
HMSD	284293	broad.mit.edu	37	18	61627535	61627535	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:61627535C>T	uc010dqj.3	+	3	515	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SERPINB8_uc002ljs.1_Intron	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	122						extracellular region	serine-type endopeptidase inhibitor activity	p.F122F(2)		kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TATTCTATTTCGATAATATTT	0.299000														16			4		0	0	0.009096	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573022	140573022	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140573022G>A	uc003lix.3	+	0	1071	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTCTGGGGAAATCTTTC	0.378000														56			30		0	0	0.007291	0	0
ASXL3	80816	broad.mit.edu	37	18	31319226	31319227	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:31319226_31319227GG>AA	uc010dmg.1	+	10	1913_1914	c.1858_1859GG>AA	c.(1858-1860)gga>AAa	p.G620K	ASXL3_uc002kxq.2_Missense_Mutation_p.G327K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	620	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGCCCAGAGGGAGCCTGTACC	0.480000														18			8		0	0	0.004672	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599457	31599457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:31599457C>T	uc003nvb.4	+	15	3256	c.3007C>T	c.(3007-3009)Ctt>Ttt	p.L1003F	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.L1003F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1003	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L1003I(2)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAATGGAAATCTTTCCCCTGC	0.592000														20			12		0	0	0.010729	0	0
CCDC144B	284047	broad.mit.edu	37	17	18483639	18483639	+	RNA	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:18483639C>T	uc002gua.4	-	11		c.2872G>A								Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TTCTGTTTCCCATTCTCCAGT	0.403000														12			7		0	0	0.003163	0	0
CEP164	22897	broad.mit.edu	37	11	117209318	117209318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:117209318C>T	uc001prc.3	+	2	163	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	CEP164_uc001prb.3_Missense_Mutation_p.L6F|CEP164_uc001prd.2_Missense_Mutation_p.L6F|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.L6F	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	6	Interaction with ATRIP.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGACGACCCCTCCGCATAGG	0.488000														71			31		0	0	0.010818	0	0
WNK1	65125	broad.mit.edu	37	12	968516	968516	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:968516A>G	uc021qss.1	+	5	2149	c.1506A>G	c.(1504-1506)ttA>ttG	p.L502L	WNK1_uc001qio.4_Silent_p.L502L|WNK1_uc021qst.1_Silent_p.L502L|WNK1_uc001qip.4_Silent_p.L502L|WNK1_uc001qir.4_5'Flank	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	502					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATAAAATTATGGCTACGTA	0.348000														51			36		0	0	0.005524	0	0
DUOX1	53905	broad.mit.edu	37	15	45428573	45428573	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:45428573C>G	uc001zus.1	+	8	1236	c.890C>G	c.(889-891)cCc>cGc	p.P297R	DUOX1_uc001zut.1_Missense_Mutation_p.P297R|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	297	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.P297R(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGTGGCTGCCCAGCTTCCTG	0.632000														44			3		0	0	0.001984	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495192	6495192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:6495192C>T	uc002mfg.1	-	3	1425	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	TUBB4A_uc002mff.1_Missense_Mutation_p.E368K|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	440					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACCTCCTCCTCCGCCTCCTCC	0.627000														59			26		0	0	0.003954	0	0
CNTN6	27255	broad.mit.edu	37	3	1427326	1427326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:1427326C>T	uc003boz.3	+	19	2816	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	CNTN6_uc011asj.2_Missense_Mutation_p.S778F|CNTN6_uc003bpa.3_Missense_Mutation_p.S850F	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	850	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCAAAGAATCCATGATAGGT	0.353000														84			46		0	0	0.011902	0	0
BPIFB1	92747	broad.mit.edu	37	20	31889060	31889060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:31889060G>A	uc002wyw.1	+	8	930	c.769G>A	c.(769-771)Gga>Aga	p.G257R	BPIFB1_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	257						extracellular space	lipid binding										GGACTCACAGGGAAAGGTGAC	0.502000														73			39		0	0	0.006999	0	0
ALOX15B	247	broad.mit.edu	37	17	7951773	7951773	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7951773C>T	uc002gju.3	+	13	2037	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	ALOX15B_uc002gjv.3_Nonsense_Mutation_p.Q612*|ALOX15B_uc002gjw.3_Nonsense_Mutation_p.Q567*|ALOX15B_uc010vun.2_Nonsense_Mutation_p.Q629*|ALOX15B_uc010cnp.3_Nonsense_Mutation_p.Q447*	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	641	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCACCTTCCAGAGCCGCCT	0.652000														39			26		0	0	0.003330	0	0
COL1A2	1278	broad.mit.edu	37	7	94040251	94040251	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:94040251C>T	uc003ung.1	+	21	1719	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	416					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.V416I(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAGCTGGCGTCATGGTAAGCT	0.458000										HNSCC(75;0.22)				82			58		0	0	0.014410	0	0
FBXO43	286151	broad.mit.edu	37	8	101153311	101153311	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:101153311T>A	uc003yjd.3	-	1	1907	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C	FBXO43_uc003yje.3_Missense_Mutation_p.S357C|FBXO43_uc010mbp.2_Missense_Mutation_p.S391C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	391					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GACTGCGAGCTTTGTTCCCGA	0.498000														66			53		0	0	0.014410	0	0
NSUN5	55695	broad.mit.edu	37	7	72718303	72718303	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:72718303G>A	uc003txw.3	-	6	935	c.858C>T	c.(856-858)ttC>ttT	p.F286F	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.F286F|NSUN5_uc003txv.3_Silent_p.F286F|NSUN5_uc003txx.3_Silent_p.F248F	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	286	S-adenosyl-L-methionine binding.						methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGACCGCCAGGAAGTCCTCCT	0.622000														46			12		0	0	0.001855	0	0
SF1	7536	broad.mit.edu	37	11	64535117	64535117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64535117G>A	uc001obb.2	-	9	1720	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	SF1_uc010rnm.2_Missense_Mutation_p.P115L|SF1_uc010rnn.2_Missense_Mutation_p.P397L|SF1_uc001oaz.2_Missense_Mutation_p.P548L|SF1_uc001oba.2_Missense_Mutation_p.P423L|SF1_uc001obd.2_Missense_Mutation_p.P423L|SF1_uc001obc.2_Missense_Mutation_p.P423L|SF1_uc001obe.2_Missense_Mutation_p.P308L|SF1_uc010rno.2_Missense_Mutation_p.P308L|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	423	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTGCATCCAAGGGGGTGGGGG	0.632000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			26		0	0	0.003954	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836075	40836075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:40836075G>A	uc002iay.3	+	2	407	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	64	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGTCACCACGGATTGGGGAT	0.597000														65			34		0	0	0.003755	0	0
RYR1	6261	broad.mit.edu	37	19	39051805	39051805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:39051805C>T	uc002oit.3	+	89	12465	c.12335C>T	c.(12334-12336)tCg>tTg	p.S4112L	RYR1_uc002oiu.3_Missense_Mutation_p.S4107L|RYR1_uc002oiv.1_Missense_Mutation_p.S1021L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4112					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			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)	TTCCTGCTTTCGTGCTCCGAA	0.597000														35			19		0	0	0.008871	0	0
BTBD11	121551	broad.mit.edu	37	12	108011078	108011078	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:108011078G>A	uc001tmk.1	+	9	2617	c.2096_splice	c.e9-1	p.G699_splice	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Splice_Site_p.G699_splice|BTBD11_uc001tml.1_Splice_Site_p.G236_splice	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	699						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGCTTGCAGGAAATTTTGAG	0.502000														118			55		0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:146997332G>A	uc003weu.2	+	8	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)				61			71		0	0	0.014410	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561224	44561224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:44561224C>T	uc002lcr.1	-	0	765	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	138					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCTGTTGCCCCGGAGGTGTT	0.642000														83			44		0	0	0.013114	0	0
LILRB1	10859	broad.mit.edu	37	19	55143446	55143446	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55143446A>T	uc002qgj.3	+	5	759	c.419A>T	c.(418-420)aAt>aTt	p.N140I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.N140I|LILRB1_uc002qgk.3_Missense_Mutation_p.N140I|LILRB1_uc002qgm.3_Missense_Mutation_p.N140I|LILRB1_uc010erq.3_Missense_Mutation_p.N140I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	140	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCAGGAGGGAATGTAATCCTC	0.542000										HNSCC(37;0.09)				66			43		0	0	0.009718	0	0
DNAH17	8632	broad.mit.edu	37	17	76522783	76522783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:76522783C>T	uc010dhp.2	-	23	3786	c.3661G>A	c.(3661-3663)Gag>Aag	p.E1221K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACGGGGCCTCGCGCCTGAAC	0.587000														22			14		0	0	0.003163	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899683	4899683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:4899683C>T	uc003snk.3	-	0	1943	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	586					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATGCAACCCCTGAACTTTCA	0.463000														66			22		0	0	0.012319	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795883	100795883	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:100795883G>A	uc001yhc.3	+	5	901	c.828G>A	c.(826-828)aaG>aaA	p.K276K	SLC25A47_uc001yhd.3_Silent_p.K130K	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	276					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCCTTTTCAAGGGGCTGGTAC	0.637000														69			41		0	0	0.006230	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037189	129037190	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:129037189_129037190CC>TT	uc003kvb.1	+	19	3045_3046	c.3045_3046CC>TT	c.(3043-3048)gcccga>gcTTga	p.R1016*	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1016	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1016*(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGATTAGAGCCCGAGAGAGGGA	0.579000														45			17		0	0	0.004672	0	0
OR5M1	390168	broad.mit.edu	37	11	56380059	56380059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56380059C>T	uc001nja.1	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAAGGATTTTCCCCTAATCAT	0.383000														103			73		0	0	0.014410	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524084	24524084	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:24524084G>A	uc002wtw.1	+	1	984	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	117					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTTCATCGAGGACCGGTCGC	0.597000														73			32		0	0	0.013726	0	0
DNAH5	1767	broad.mit.edu	37	5	13771003	13771003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:13771003C>T	uc003jfd.2	-	55	9502	c.9460G>A	c.(9460-9462)Gat>Aat	p.D3154N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3154	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCACCCCATCCTGGAAGGAG	0.448000									Kartagener syndrome					61			24		0	0	0.002780	0	0
USP25	29761	broad.mit.edu	37	21	17196463	17196463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:17196463C>T	uc011aby.1	+	10	1403	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	USP25_uc002yjz.1_Missense_Mutation_p.P396S|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.P396S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	396					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATTAGAATTTCCCCAAGTTTT	0.318000														27			14		0	0	0.002450	0	0
KEL	3792	broad.mit.edu	37	7	142658060	142658060	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:142658060G>A	uc003wcb.3	-	3	565	c.355C>T	c.(355-357)Cag>Tag	p.Q119*		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	119					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCAAGCTCCTGAAAAGAATTA	0.517000														118			123		0	0	0.014410	0	0
OR4M1	441670	broad.mit.edu	37	14	20249060	20249060	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20249060C>T	uc010tku.2	+	0	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAACACCTTCCCAGAGGAGT	0.478000														446			74		0	0	0.014410	0	0
LCE1D	353134	broad.mit.edu	37	1	152770517	152770517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:152770517C>T	uc021ozh.1	+	0	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1D_uc009wnp.3_Missense_Mutation_p.R83C	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	83	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGTCCCACCGTCGCAGACC	0.706000														16			22		0	0	0.010504	0	0
FAM47A	158724	broad.mit.edu	37	X	34150173	34150173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:34150173C>T	uc004ddg.3	-	0	275	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	75								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTAAAAACTCGTCACGGCGA	0.532000														90			41		0	0	0.011902	0	0
DSP	1832	broad.mit.edu	37	6	7569544	7569544	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7569544G>A	uc003mxp.1	+	11	1824	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	DSP_uc003mxq.1_Silent_p.P515P|DSP_uc021yle.1_Silent_p.P515P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	515	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		TCCCTCCTCCGAACCCACTGG	0.577000														62			71		0	0	0.014410	0	0
ARHGAP6	395	broad.mit.edu	37	X	11272674	11272674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:11272674G>A	uc004cup.1	-	1	1615	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.P248S|ARHGAP6_uc004cum.1_Missense_Mutation_p.P45S|ARHGAP6_uc004cun.1_Missense_Mutation_p.P68S|ARHGAP6_uc010neb.1_Missense_Mutation_p.P70S|ARHGAP6_uc011mif.1_Missense_Mutation_p.P45S	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	248					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTACCTTTGGGAATGGTGATC	0.527000														65			32		0	0	0.003271	0	0
SCN5A	6331	broad.mit.edu	37	3	38620983	38620983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:38620983C>T	uc021wvo.1	-	16	3284	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	SCN5A_uc021wvk.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvn.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvp.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvq.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvr.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvt.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.E944K|SCN5A_uc021wvw.1_Splice_Site_p.E688_splice	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1078					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)	GGCTGGGATTCCTGCTGAAAA	0.647000														24			16		0	0	0.004007	0	0
GCKR	2646	broad.mit.edu	37	2	27726415	27726415	+	Nonsense_Mutation	SNP	C	T	T	rs149847328		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:27726415C>T	uc002rky.3	+	8	745	c.679C>T	c.(679-681)Cga>Tga	p.R227*	GCKR_uc010ezd.3_Nonsense_Mutation_p.R227*|GCKR_uc010ylu.2_Nonsense_Mutation_p.R37*	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	227	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCAACATTCCGACAAGTAGC	0.493000														24			17		0	0	0.007413	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982904	92982904	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:92982904C>T	uc022axs.1	-	10	1885	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q	RUNX1T1_uc003yfc.2_Silent_p.Q480Q|RUNX1T1_uc010mam.3_Silent_p.Q480Q|RUNX1T1_uc003yfe.2_Silent_p.Q470Q|RUNX1T1_uc003yfd.3_Silent_p.Q507Q|RUNX1T1_uc022axo.1_Silent_p.Q507Q|RUNX1T1_uc010mao.3_Silent_p.Q480Q|RUNX1T1_uc011lgi.2_Silent_p.Q518Q|RUNX1T1_uc022axp.1_Silent_p.Q507Q|RUNX1T1_uc022axq.1_Silent_p.Q507Q|RUNX1T1_uc022axr.1_Silent_p.Q507Q|RUNX1T1_uc022axt.1_Silent_p.Q507Q|RUNX1T1_uc022axu.1_Silent_p.Q487Q|RUNX1T1_uc022axv.1_Silent_p.Q507Q|RUNX1T1_uc010man.2_Silent_p.Q132Q|RUNX1T1_uc003yfb.2_Silent_p.Q470Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	507					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AATCCTCCTGCTGATTGATAA	0.512000														34			21		0	0	0.014323	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597029	136597029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:136597029G>A	uc003qgx.1	-	4	1887	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	BCLAF1_uc003qgy.1_Missense_Mutation_p.P543L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P543L|BCLAF1_uc003qgw.1_Missense_Mutation_p.P372L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	545					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGACTTCAGGACGGTGAGA	0.438000														180			43		0	0	0.008740	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764725	77764725	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:77764725G>A	uc003yau.2	+	9	5955	c.5568G>A	c.(5566-5568)aaG>aaA	p.K1856K	ZFHX4_uc003yaw.1_Silent_p.K1811K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1811						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCTTATAAGGAGGCAGAAG	0.398000										HNSCC(33;0.089)				5			6		0	0	0.001168	0	0
PLXNB3	5365	broad.mit.edu	37	X	153041612	153041612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153041612C>T	uc010nuk.2	+	27	5012	c.4741C>T	c.(4741-4743)Caa>Taa	p.Q1581*	PLXNB3_uc004fii.2_Nonsense_Mutation_p.Q1558*|PLXNB3_uc011mzd.1_Nonsense_Mutation_p.Q1197*|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1558					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)					GGTGTTGGACCAAGTCTACAA	0.677000														11			3		0	0	0.004672	0	0
RAB40A	142684	broad.mit.edu	37	X	102754975	102754975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102754975C>T	uc022cbs.1	-	0	710	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	RAB40A_uc004ekk.3_Missense_Mutation_p.R237Q	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.	237					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GGAGAGGCCTCGCATCATCCT	0.582000														125			70		0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53076592	53076592	+	Nonsense_Mutation	SNP	G	A	A	rs149497456	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:53076592G>A	uc003xqz.2	-	7	1510	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	ST18_uc011ldq.1_Nonsense_Mutation_p.Q99*|ST18_uc011ldr.1_Nonsense_Mutation_p.Q417*|ST18_uc011lds.1_Nonsense_Mutation_p.Q357*|ST18_uc003xra.2_Nonsense_Mutation_p.Q452*|ST18_uc003xrb.2_Nonsense_Mutation_p.Q452*	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	452						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAATCAAGCTGATTTTTATCC	0.448000														72			42		0	0	0.014410	0	0
SLC25A24	29957	broad.mit.edu	37	1	108690945	108690945	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:108690945A>G	uc001dvn.4	-	6	1100	c.886T>C	c.(886-888)Tcc>Ccc	p.S296P	SLC25A24_uc001dvm.3_Missense_Mutation_p.S277P	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	296					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCAGCCATGGAACCAGAAATA	0.373000														92			43		0	0	0.013114	0	0
KCNN1	3780	broad.mit.edu	37	19	18108989	18108989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:18108989C>T	uc002nht.3	+	10	1716	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	ARRDC2_uc002nhu.3_5'Flank	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	469					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GACCTTGTATCGGAGCTGCAC	0.647000														5			4		0	0	0.009096	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555050	44555050	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:44555050C>T	uc010xdb.2	-	0	1400	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	388	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R387G(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATTCATCTGTCTCTCGAGCGA	0.567000														556			28		0	0	0.004878	0	0
MARK4	57787	broad.mit.edu	37	19	45766591	45766591	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:45766591C>T	uc002pbb.2	+	3	652	c.321C>T	c.(319-321)gtC>gtT	p.V107V	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Silent_p.V107V|MARK4_uc002pbc.1_5'Flank	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	107	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.V107D(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCGAGAAGTCCGCATCATGA	0.622000														61			28		0	0	0.009535	0	0
MYSM1	114803	broad.mit.edu	37	1	59147533	59147533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:59147533G>A	uc009wab.2	-	7	1206	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	395	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AAAAACTCAGGAATTGCTTGT	0.338000														37			29		0	0	0.006320	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103436544	103436544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:103436544G>A	uc001ymi.1	-	13	2171	c.1939C>T	c.(1939-1941)Cgt>Tgt	p.R647C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	647					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGTGCTCACGAAGCTTGCGC	0.537000														13			9		0	0	0.008291	0	0
SETBP1	26040	broad.mit.edu	37	18	42530992	42530992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:42530992C>T	uc010dni.3	+	3	1983	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	563						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTGCATATCCCATCACCCC	0.522000									Schinzel-Giedion syndrome					147			58		0	0	0.014410	0	0
HERC1	8925	broad.mit.edu	37	15	63970328	63970328	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:63970328C>G	uc002amp.3	-	36	6934	c.6786G>C	c.(6784-6786)caG>caC	p.Q2262H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2262					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTCTCGGCTCTGAACCGAGC	0.433000														35			18		0	0	0.006122	0	0
XK	7504	broad.mit.edu	37	X	37545256	37545256	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:37545256C>T	uc004ddq.3	+	0	124	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	14					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGTTCCTGTTCGTGGCCGAGA	0.682000														12			8		0	0	0.004482	0	0
RET	5979	broad.mit.edu	37	10	43617399	43617399	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:43617399G>A	uc001jal.3	+	15	2926	c.2736G>A	c.(2734-2736)cgG>cgA	p.R912R	RET_uc001jak.1_Silent_p.R912R|RET_uc010qez.1_Silent_p.R658R	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	912	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.G911D(1)|p.R912L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTTAGGGTCGGATTCCAGTTA	0.453000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					46			45		0	0	0.014410	0	0
NYAP1	222950	broad.mit.edu	37	7	100086303	100086303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100086303C>T	uc003uvd.1	+	3	1118	c.959C>T	c.(958-960)cCt>cTt	p.P320L	NYAP1_uc003uve.1_Missense_Mutation_p.P102L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	320	Pro-rich.																AAGACCACTCCTTGTGAAATC	0.692000														86			40		0	0	0.005524	0	0
DNAH5	1767	broad.mit.edu	37	5	13839514	13839514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:13839514C>T	uc003jfd.2	-	34	5875	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1945	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTAAAAATTCATTCTGGTAT	0.428000									Kartagener syndrome					61			33		0	0	0.004878	0	0
C15orf43	145645	broad.mit.edu	37	15	45258395	45258395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:45258395G>A	uc001zuk.3	+	4	402	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	130								p.E130K(2)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GACCCTTAGGGAAAACAGTGA	0.318000														19			11		0	0	0.001855	0	0
SRL	6345	broad.mit.edu	37	16	4254583	4254583	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:4254583G>A	uc002cvz.4	-	1	127	c.114C>T	c.(112-114)atC>atT	p.I38I	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	497	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGGTCTTCTCGATGTGGGAGC	0.572000														69			37		0	0	0.007835	0	0
SLC1A2	6506	broad.mit.edu	37	11	35313843	35313843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:35313843G>A	uc001mwd.3	-	6	1674	c.1082C>T	c.(1081-1083)aCc>aTc	p.T361I	SLC1A2_uc021qfx.1_Missense_Mutation_p.T352I|SLC1A2_uc001mwe.3_Missense_Mutation_p.T352I|SLC1A2_uc010rev.1_Missense_Mutation_p.T361I	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	361					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCTGGAAGCGGTGCCCAGGGC	0.458000														151			78		0	0	0.014410	0	0
ABCA11P	79963	broad.mit.edu	37	4	437664	437664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:437664G>A	uc003gaf.4	-	2	914	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.R198C|ABCA11P_uc010ibe.3_Missense_Mutation_p.R186C	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		GCTCTGTCACGATCTTCACCT	0.373000														47			20		0	0	0.008871	0	0
ZNF536	9745	broad.mit.edu	37	19	30935918	30935918	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:30935918G>A	uc002nsu.1	+	1	1587	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G	ZNF536_uc010edd.1_Silent_p.G483G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGGAGGGGGACAAGCACT	0.657000														47			21		0	0	0.010504	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186571030	186571030	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:186571030C>T	uc010hyy.3	+	2	318	c.183C>T	c.(181-183)acC>acT	p.T61T	ADIPOQ_uc003fra.3_Silent_p.T61T	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	61	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GAGATGGCACCCCTGGTGAGA	0.557000														10			12		0	0	0.010729	0	0
SMEK3P	139420	broad.mit.edu	37	X	27480757	27480757	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:27480757G>A	uc004dbu.1	-	0	702	c.657C>T	c.(655-657)atC>atT	p.I219I						Homo sapiens SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene (SMEK3P), non-coding RNA.																		CCACATCCATGATACACTCGT	0.408000														27			11		0	0	0.008291	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190820	185190821	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:185190820_185190821CC>TT	uc010hyf.3	+	11	1992_1993	c.1701_1702CC>TT	c.(1699-1704)tcccct>tcTTct	p.P568S	MAP3K13_uc011brt.2_Missense_Mutation_p.P361S|MAP3K13_uc011bru.2_Missense_Mutation_p.P424S|MAP3K13_uc003fpi.3_Missense_Mutation_p.P568S|MAP3K13_uc010hyg.3_Missense_Mutation_p.P258S	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	568					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCACTGCATCCCCTTTGTCCGG	0.520000														137			75		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179475812	179475812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:179475812G>A	uc021vsy.1	-	218	43565	c.43340C>T	c.(43339-43341)cCc>cTc	p.P14447L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P8142L|TTN_uc021vta.1_Missense_Mutation_p.P8075L|TTN_uc021vtb.1_Missense_Mutation_p.P7950L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15374	Fibronectin type-III 4.						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)			GACACTCTTGGGAACTTCAAG	0.413000														33			36		0	0	0.003271	0	0
TRPC4	7223	broad.mit.edu	37	13	38266349	38266349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:38266349G>A	uc010abx.3	-	3	1256	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.P341S|TRPC4_uc001uws.3_Missense_Mutation_p.P341S|TRPC4_uc010tey.2_Missense_Mutation_p.P341S|TRPC4_uc010abw.3_Missense_Mutation_p.P168S|TRPC4_uc010aby.3_Missense_Mutation_p.P341S	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGAAGACAGGAAAAAGAAGT	0.473000														35			33		0	0	0.013726	0	0
EPC2	26122	broad.mit.edu	37	2	149528724	149528724	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:149528724T>G	uc010zbt.2	+	9	1515	c.1488T>G	c.(1486-1488)aaT>aaG	p.N496K		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	496					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTTCTTCTAATTTCTCTCGGA	0.383000														17			17		0	0	0.004007	0	0
LILRA1	11024	broad.mit.edu	37	19	55107260	55107260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55107260C>T	uc002qgh.1	+	5	1000	c.818C>T	c.(817-819)cCc>cTc	p.P273L	LILRA1_uc010yfg.1_Missense_Mutation_p.P271L|LILRA1_uc010yfh.2_Missense_Mutation_p.P273L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	273	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGCCCACAGCCCCAGGCTGGG	0.602000														58			43		0	0	0.013114	0	0
DNAH11	8701	broad.mit.edu	37	7	21583153	21583153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:21583153C>T	uc003svc.3	+	0	321	c.290C>T	c.(289-291)aCc>aTc	p.T97I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	97	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGAAAGCACCAGCCCGGCT	0.617000									Kartagener syndrome					10			5		0	0	0.001168	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710787	140710787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140710787C>T	uc003lji.2	+	0	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PCDHGC5_uc011dan.2_Missense_Mutation_p.S179F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	179	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATTTCTCCCTGGATGTG	0.527000														81			58		0	0	0.014410	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950952	30950952	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:30950952G>A	uc003aig.1	-	3	1400	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	GAL3ST1_uc003aih.1_Silent_p.F420F|GAL3ST1_uc003aii.1_Silent_p.F420F|GAL3ST1_uc010gvz.1_Silent_p.F420F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	420					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ACCACCGCAGGAAATCGCGAA	0.687000														18			13		0	0	0.003163	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718992	108718992	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:108718992C>T	uc022cch.1	-	0	259	c.174G>A	c.(172-174)gtG>gtA	p.V58V	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.V58V	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	58					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCCAAGGGCCCACCACCCCTA	0.557000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			42		0	0	0.006230	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738853	176738853	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:176738853C>T	uc001gkz.3	+	15	5598	c.4434C>T	c.(4432-4434)tcC>tcT	p.S1478S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1478	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAACTTCTCCTGCTCAGAGG	0.522000														94			59		0	0	0.014410	0	0
THRB	7068	broad.mit.edu	37	3	24270443	24270443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:24270443G>A	uc003ccz.4	-	4	528	c.8C>T	c.(7-9)cCc>cTc	p.P3L	THRB_uc010hfe.3_Missense_Mutation_p.P3L|THRB_uc003ccy.4_Missense_Mutation_p.P3L|THRB_uc003ccx.4_Missense_Mutation_p.P3L|THRB_uc003cdc.3_5'UTR|THRB_uc003cdd.3_5'UTR|THRB_uc003cde.1_5'UTR|THRB_uc021wuc.1_5'UTR|THRB_uc021wud.1_Non-coding_Transcript	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	3	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)	CATACTGTTGGGAGTCATAGG	0.313000														66			28		0	0	0.004289	0	0
LNX1	84708	broad.mit.edu	37	4	54347931	54347931	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:54347931C>G	uc003hag.4	-	6	1697	c.1441G>C	c.(1441-1443)Ggc>Cgc	p.G481R	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.G385R|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	481						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GACCAGCTGCCATTGCTGTTC	0.627000														23			12		0	0	0.013537	0	0
GREB1	9687	broad.mit.edu	37	2	11733049	11733049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:11733049C>T	uc002rbk.1	+	10	1793	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	GREB1_uc002rbo.1_Missense_Mutation_p.S132F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	498						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCGTGACCTCCGCGCAGCTG	0.731000														8			5		0	0	0.000602	0	0
CUEDC1	404093	broad.mit.edu	37	17	55956975	55956975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:55956975G>A	uc002ivd.1	-	2	1180	c.461C>T	c.(460-462)cCc>cTc	p.P154L	CUEDC1_uc002ive.1_Missense_Mutation_p.P154L	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	154	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TTCTCACCGGGGAGGCGGAGT	0.607000														47			14		0	0	0.003163	0	0
OCA2	4948	broad.mit.edu	37	15	28196952	28196952	+	Silent	SNP	G	A	A	rs138985876		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:28196952G>A	uc001zbh.4	-	17	2039	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V	OCA2_uc010ayv.3_Silent_p.V619V	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	643					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATGCCAGGGACAAACGAAT	0.433000									Oculocutaneous Albinism					26			19		0	0	0.008871	0	0
STIL	6491	broad.mit.edu	37	1	47746767	47746767	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:47746767A>T	uc001crd.1	-	11	1518	c.1363T>A	c.(1363-1365)Ttg>Atg	p.L455M	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L408M|STIL_uc010omo.1_Missense_Mutation_p.L455M|STIL_uc001crc.1_Missense_Mutation_p.L455M|STIL_uc001cre.1_Missense_Mutation_p.L455M|STIL_uc001crf.1_Missense_Mutation_p.L68M|STIL_uc001crg.1_Missense_Mutation_p.L408M	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	455					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGTTAATCAAAGGAGGATTT	0.423000														135			54		0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7580541	7580541	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7580541C>A	uc003mxp.1	+	22	4397	c.4118C>A	c.(4117-4119)aCc>aAc	p.T1373N	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1373	Central fibrous rod domain.				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)		ATCAACATCACCAAGACCACC	0.448000														86			36		2.42023e-17	2.5035e-17	0.003271	1	0
CYP2B7P1	1556	broad.mit.edu	37	19	41454959	41454959	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:41454959G>A	uc002opq.3	+	9		c.1303_splice	c.e9-1		CYP2A7_uc002opo.3_Intron					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCCCACAGGGAAGCGGATTT	0.572000														17			10		0	0	0.008291	0	0
SLC6A6	6533	broad.mit.edu	37	3	14520675	14520675	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:14520675C>G	uc010heg.3	+	12	1832	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	SLC6A6_uc003byq.3_Missense_Mutation_p.I511M|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	511					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGGCTGTGATCACTCCAGTTC	0.522000														53			28		0	0	0.006320	0	0
SYT1	6857	broad.mit.edu	37	12	79679683	79679683	+	Missense_Mutation	SNP	G	A	A	rs138582600		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:79679683G>A	uc001sys.3	+	5	954	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SYT1_uc001syt.3_Missense_Mutation_p.E95K|SYT1_uc001syu.3_Missense_Mutation_p.E95K|SYT1_uc001syv.3_Missense_Mutation_p.E95K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	95					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.E95K(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGGGAAAGGAAAAAGGAGG	0.348000														42			18		0	0	0.006122	0	0
EPAS1	2034	broad.mit.edu	37	2	46607833	46607834	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:46607833_46607834CC>AT	uc002ruv.3	+	11	2532_2533	c.2022_2023CC>AT	c.(2020-2025)ccccat>ccATat	p.H675Y	EPAS1_uc002ruw.3_Missense_Mutation_p.H141Y	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	675					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.P674P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCTCCACCCCATGTCTCCAC	0.594000														120			29		0	0	0.004672	0	0
XIRP2	129446	broad.mit.edu	37	2	168101889	168101889	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:168101889G>A	uc002udx.3	+	8	4076	c.3987G>A	c.(3985-3987)ggG>ggA	p.G1329G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.G1154G|XIRP2_uc010fpq.3_Silent_p.G1107G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1154					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						ACCGAGAAGGGTCCTATCATG	0.393000														14			38		0	0	0.006230	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711993	140711994	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140711993_140711994CC>TT	uc003lji.2	+	0	1742_1743	c.1742_1743CC>TT	c.(1741-1743)tcc>tTT	p.S581F	PCDHGC5_uc011dan.2_Missense_Mutation_p.S581F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCCCTCTCCGCAGAGCCCG	0.673000														86			55		0	0	0.004672	0	0
MMP26	56547	broad.mit.edu	37	11	5009424	5009424	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5009424G>A	uc001lzv.3	+	1	1	c.-17_splice	c.e1-1			NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.						collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAAGCAGTGGGACAAATGAGG	0.493000											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		58			35		0	0	0.004289	0	0
MCF2	4168	broad.mit.edu	37	X	138697087	138697087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:138697087G>A	uc011mwn.1	-	12	1757	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	MCF2_uc004fav.3_Missense_Mutation_p.P439L|MCF2_uc004fau.3_Missense_Mutation_p.P439L|MCF2_uc010nsh.2_Missense_Mutation_p.P439L|MCF2_uc011mwm.2_Missense_Mutation_p.P400L|MCF2_uc011mwl.2_Missense_Mutation_p.P400L|MCF2_uc011mwo.1_Missense_Mutation_p.P499L|MCF2_uc004faw.2_Missense_Mutation_p.P499L	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	439	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAAATTTTCAGGTGTGGGTAC	0.378000														166			99		0	0	0.014410	0	0
PNPLA6	10908	broad.mit.edu	37	19	7600813	7600813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:7600813C>T	uc010xjq.2	+	2	406	c.166C>T	c.(166-168)Cct>Tct	p.P56S	PNPLA6_uc002mgq.2_Intron|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Intron|PNPLA6_uc002mgs.3_Missense_Mutation_p.P47S	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	47					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCGTTCGTCCCTCAGGTGCT	0.697000														5			3		0	0	0.004672	0	0
ODZ4	26011	broad.mit.edu	37	11	78369594	78369594	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:78369594G>A	uc001ozl.4	-	33	8282	c.7819C>T	c.(7819-7821)Ctg>Ttg	p.L2607L	ODZ4_uc001ozk.4_Silent_p.L832L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2607					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGAAGTGCAGGTTCTCTAGG	0.557000														21			13		0	0	0.001855	0	0
ZNF208	7757	broad.mit.edu	37	19	22154181	22154181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:22154181G>A	uc021urr.1	-	3	3804	c.3655C>T	c.(3655-3657)Cat>Tat	p.H1219Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTG	0.378000														24			27		0	0	0.005443	0	0
SLC25A4	291	broad.mit.edu	37	4	186066010	186066010	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:186066010C>T	uc003ixd.3	+	1	314	c.204C>T	c.(202-204)ctC>ctT	p.L68L		NM_001151	NP_001142	P12235	ADT1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (SLC25A4), nuclear gene encoding mitochondrial protein, mRNA.	68					energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	AGGGCTTCCTCTCCTTCTGGA	0.527000														79			49		0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	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					55			60		0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32037435	32037435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32037435C>T	uc003nzl.2	-	14	5684	c.5482G>A	c.(5482-5484)Gag>Aag	p.E1828K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1910	Fibronectin type-III 10.				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						ACGCTGACCTCCCTGAGGCTG	0.667000														79			37		0	0	0.004289	0	0
PVR	5817	broad.mit.edu	37	19	45157173	45157173	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:45157173C>T	uc002ozm.3	+	3	1028	c.729C>T	c.(727-729)ccC>ccT	p.P243P	PVR_uc010ejs.3_Silent_p.P243P|PVR_uc010xxb.2_Silent_p.P243P|PVR_uc010xxc.2_Silent_p.P243P|PVR_uc002ozn.3_Silent_p.P188P|MIR4531_uc021uvk.1_5'Flank	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	243					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTGCAGACCCCCCAGAGGTAT	0.587000														204			106		0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:89953946G>A	uc003kju.3	+	20	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1535	Calx-beta 10.				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)		TGACAATGACGAGGAAGGAGA	0.358000														80			46		0	0	0.014410	0	0
LPIN2	9663	broad.mit.edu	37	18	2923774	2923774	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:2923774C>A	uc002klo.3	-	16	2413	c.2174_splice	c.e16+1	p.E725_splice		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	725	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTACCTACTCATTGATGGAA	0.488000														74			43		6.5261e-18	6.75579e-18	0.008740	1	0
OR5M1	390168	broad.mit.edu	37	11	56380901	56380901	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56380901G>A	uc001nja.1	-	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCCCAAACAGGATCTTCTCTA	0.473000														80			48		0	0	0.014410	0	0
CXorf23	256643	broad.mit.edu	37	X	19983446	19983446	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:19983446C>T	uc004czp.3	-	2	990	c.990G>A	c.(988-990)ggG>ggA	p.G330G	CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Silent_p.G280G	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	330						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GAGTCTCTCTCCCTCTTCCAG	0.348000														97			45		0	0	0.014410	0	0
CAPN6	827	broad.mit.edu	37	X	110497615	110497615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:110497615G>A	uc004epc.2	-	2	373	c.182C>T	c.(181-183)cCc>cTc	p.P61L	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	61	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AATCAGATGGGGGTCATCACA	0.478000														82			54		0	0	0.014410	0	0
OR6M1	390261	broad.mit.edu	37	11	123676701	123676701	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:123676701G>A	uc010rzz.2	-	0	357	c.357C>T	c.(355-357)gaC>gaT	p.D119D		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCATGTAGCGGTCAAAGGACA	0.507000														33			21		0	0	0.008871	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870607	69870607	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:69870607G>A	uc011cao.1	-	7	1548	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	UGT2B10_uc011can.1_Silent_p.F390F			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	518					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTTTTCTAGCGAACTTCCAGA	0.398000														51			50		0	0	0.014410	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119099820	119099820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:119099820C>T	uc003ecj.4	+	3	950	c.418C>T	c.(418-420)Cca>Tca	p.P140S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	140	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.P140A(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCTTCCTCCATCCCACTA	0.493000														35			26		0	0	0.005443	0	0
USH2A	7399	broad.mit.edu	37	1	216371810	216371810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:216371810C>T	uc001hku.1	-	17	4315	c.3928G>A	c.(3928-3930)Gaa>Aaa	p.E1310K	USH2A_uc001hkv.3_Missense_Mutation_p.E1310K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1310	Fibronectin type-III 3.				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)		TTGGCCGATTCTACAAATGAA	0.413000										HNSCC(13;0.011)				77			44		0	0	0.011902	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217832	44217832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:44217832C>T	uc003oxa.1	+	4	673	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_uc011dvr.1_Missense_Mutation_p.R187W|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R197W|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R17W|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	197					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding	p.R197L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAAGAGAGGCGGGTCAAAGA	0.433000														94			60		0	0	0.014410	0	0
NBPF1	55672	broad.mit.edu	37	1	16891330	16891330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:16891330C>T	uc009vos.1	-	28	3970	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1030	NBPF 6.|Poly-Glu.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAtcttcttccccttctttt	0.433000														357			12		0	0	0.001855	0	0
MYL3	4634	broad.mit.edu	37	3	46902187	46902187	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:46902187G>A	uc003cql.1	-	2	379	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	96					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGCTTCCCCAGGACACGGAGC	0.632000														47			17		0	0	0.004990	0	0
ILF3	3609	broad.mit.edu	37	19	10799882	10799883	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:10799882_10799883CC>TT	uc002mpn.3	+	19	2896_2897	c.2579_2580CC>TT	c.(2578-2580)tcc>tTT	p.S860F	ILF3_uc002mpo.3_Missense_Mutation_p.S864F|ILF3_uc002mpq.3_Missense_Mutation_p.P163F	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	860	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AACTACAACTCCCCGGGGTCCG	0.604000														158			77		0	0	0.004672	0	0
GATA1	2623	broad.mit.edu	37	X	48652280	48652280	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48652280G>A	uc004dkq.4	+	5	1042	c.951G>A	c.(949-951)cgG>cgA	p.R317R		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	317					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAAGAAACGGGGCTCCAGTC	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									11			12		0	0	0.001855	0	0
ACOX3	8310	broad.mit.edu	37	4	8394159	8394159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:8394159G>A	uc010idk.3	-	10	1346	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	ACOX3_uc003glc.4_Missense_Mutation_p.H401Y|ACOX3_uc003gld.4_Missense_Mutation_p.H401Y	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	401					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCCAGGGCGTGGATCTCACGT	0.552000														156			77		0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122680022	122680022	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:122680022C>T	uc003efz.1	-	1	393	c.89G>A	c.(88-90)tGg>tAg	p.W30*	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Nonsense_Mutation_p.W30*|SEMA5B_uc010hro.1_Intron|SEMA5B_uc010hrp.1_Intron	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	30					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCTACTGTCCATCCACACCT	0.627000														38			22		0	0	0.014323	0	0
BAI3	577	broad.mit.edu	37	6	70071218	70071218	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:70071218G>T	uc010kak.3	+	27	4329	c.4053G>T	c.(4051-4053)atG>atT	p.M1351I	BAI3_uc003pev.4_Missense_Mutation_p.M1351I|BAI3_uc011dxx.2_Missense_Mutation_p.M557I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1351					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTCAATATGAATCCCCCTG	0.428000														37			35		9.17885e-22	9.52376e-22	0.003271	1	0
GDPD1	284161	broad.mit.edu	37	17	57348355	57348355	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:57348355C>T	uc002ixk.2	+	8	913	c.770_splice	c.e8+1	p.L257_splice	GDPD1_uc002ixj.3_Splice_Site_p.L257_splice|GDPD1_uc021uas.1_Splice_Site_p.L257_splice	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	257	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCTTTCTGATCTGTAAGAATT	0.308000														83			29		0	0	0.007291	0	0
GPR61	83873	broad.mit.edu	37	1	110085755	110085755	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:110085755G>A	uc021orh.1	+	0	111	c.111G>A	c.(109-111)cgG>cgA	p.R37R	GPR61_uc001dxy.2_Silent_p.R37R	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGGGCTACGGGATGTTGCTT	0.612000														54			28		0	0	0.005443	0	0
PPP6R2	9701	broad.mit.edu	37	22	50877130	50877130	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:50877130G>A	uc003blb.2	+	19	2489	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	PPP6R2_uc003blc.3_Silent_p.G689G|PPP6R2_uc003bky.2_Silent_p.G662G|PPP6R2_uc003bla.2_Silent_p.G663G|PPP6R2_uc003bkz.2_Silent_p.G662G|PPP6R2_uc003bld.2_Silent_p.G221G	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	689						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ATGCACCTGGGGCAGGTGCCC	0.652000														28			18		0	0	0.004990	0	0
OR6C6	283365	broad.mit.edu	37	12	55688823	55688823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55688823G>A	uc010sph.2	-	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCCAAAAAGGAGAAATTACG	0.393000														31			18		0	0	0.006122	0	0
SNX1	6642	broad.mit.edu	37	15	64410326	64410326	+	Silent	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:64410326G>T	uc002amv.3	+	2	412	c.282G>T	c.(280-282)gtG>gtT	p.V94V	SNX1_uc010bgv.3_Intron|SNX1_uc010uio.2_Silent_p.V94V|SNX1_uc002amx.3_Intron|SNX1_uc010bgw.3_Intron	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	94					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCCACAGTGGAGCTATCCT	0.393000														60			44		6.21074e-16	6.41461e-16	0.011902	1	0
LCNL1	401562	broad.mit.edu	37	9	139878151	139878151	+	Missense_Mutation	SNP	G	A	A	rs142707510	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:139878151G>A	uc004ckh.1	+	0	707	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN	Homo sapiens lipocalin-like 1 (LCNL1), mRNA.	38							binding										CTCAAGTTTGGATACCCCACG	0.572000														26			43		0	0	0.014410	0	0
C16orf11	146325	broad.mit.edu	37	16	615297	615297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:615297C>T	uc002chk.3	+	2	1985	c.1706C>T	c.(1705-1707)gCc>gTc	p.A569V	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank|NHLRC4_uc021szs.1_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	569										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCAGGGCGCCGAGGTCTGA	0.682000														8			9		0	0	0.008291	0	0
AADAC	13	broad.mit.edu	37	3	151545890	151545890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:151545890C>T	uc003eze.3	+	4	1220	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	377					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGAGCATTTTCATTTCTGGGA	0.363000														63			31		0	0	0.010818	0	0
MTUS2	23281	broad.mit.edu	37	13	29600626	29600626	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:29600626C>T	uc001usl.4	+	0	1879	c.1821C>T	c.(1819-1821)atC>atT	p.I607I		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	597						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAGTGGGATCCCCAAGCCTG	0.532000														49			10		0	0	0.008291	0	0
C7orf58	79974	broad.mit.edu	37	7	120911433	120911434	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:120911433_120911434GG>AA	uc003vjq.4	+	21	3264_3265	c.2817_2818GG>AA	c.(2815-2820)atgggg>atAAgg	p.939_940MG>IR		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	939						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)					CTATAACAATGGGGCGTTACAA	0.347000														135			37		0	0	0.004672	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642939	1642939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:1642939C>T	uc009ycy.1	-	1	367	c.280G>A	c.(280-282)Gga>Aga	p.G94R	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	189	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCTCCTTTGGAGCCC	0.652000														96			48		0	0	0.014410	0	0
LLGL2	3993	broad.mit.edu	37	17	73566141	73566142	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:73566141_73566142GG>AA	uc002joh.3	+	14	1833_1834	c.1679_1680GG>AA	c.(1678-1680)ggg>gAA	p.G560E	LLGL2_uc002joi.3_Missense_Mutation_p.G560E|LLGL2_uc010dgg.2_Missense_Mutation_p.G560E|LLGL2_uc002joj.3_Missense_Mutation_p.G549E|LLGL2_uc010wsd.2_Missense_Mutation_p.G187E	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	560					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCTGGAAGGGGCACGAGCGCC	0.663000														12			9		0	0	0.004672	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883773	74883773	+	Silent	SNP	C	T	T	rs144632103		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:74883773C>T	uc002sna.1	+	1	369	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SEMA4F_uc010ysb.1_Silent_p.F86F|SEMA4F_uc021vjn.1_Silent_p.F86F|SEMA4F_uc010ffq.1_Silent_p.F86F|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.F86F	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	86	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ACACCATCTTCGCTTTATCCC	0.532000														58			31		0	0	0.009535	0	0
TCP10	6953	broad.mit.edu	37	6	167786754	167786754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:167786754G>A	uc003qvv.1	-	7	1096	c.884C>T	c.(883-885)cCa>cTa	p.P295L	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	322						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTTGCCCTTTGGATGTCGTTT	0.542000														43			8		0	0	0.013537	0	0
ATP10B	23120	broad.mit.edu	37	5	160025810	160025810	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:160025810C>G	uc003lym.1	-	21	4378	c.3531G>C	c.(3529-3531)ttG>ttC	p.L1177F	ATP10B_uc010jit.1_Intron	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1177					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATAGCTCAGGCAATGCCAGGA	0.493000														234			133		0	0	0.014410	0	0
OR10S1	219873	broad.mit.edu	37	11	123847882	123847882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:123847882G>A	uc001pzm.1	-	0	517	c.517C>T	c.(517-519)Cac>Tac	p.H173Y		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGGAGGTGTGGATTGCAGCG	0.562000														53			15		0	0	0.004007	0	0
MED12	9968	broad.mit.edu	37	X	70343562	70343562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:70343562C>T	uc004dyy.3	+	11	1935	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	MED12_uc011mpq.1_Missense_Mutation_p.P579L|MED12_uc004dyz.3_Missense_Mutation_p.P579L|MED12_uc004dza.3_Missense_Mutation_p.P426L|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	579					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACACAGGCTCCCATGCTGAGT	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							7			3		0	0	0.004672	0	0
OSBP2	23762	broad.mit.edu	37	22	31286931	31286931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:31286931G>A	uc003aiy.1	+	7	1944	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N	OSBP2_uc011ala.1_Missense_Mutation_p.D448N|OSBP2_uc010gwc.1_Missense_Mutation_p.D441N|OSBP2_uc011alb.1_Missense_Mutation_p.D565N|OSBP2_uc003aiz.1_Missense_Mutation_p.D613N|OSBP2_uc003aja.1_Missense_Mutation_p.D247N|OSBP2_uc011alc.2_Missense_Mutation_p.D356N|OSBP2_uc011ald.1_Missense_Mutation_p.D158N|OSBP2_uc010gwd.1_Missense_Mutation_p.D159N	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	614					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCGCCTCGACGACATGGGCCT	0.667000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			18		0	0	0.010504	0	0
TOR3A	64222	broad.mit.edu	37	1	179052082	179052082	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:179052082C>T	uc001gmd.3	+	1	419	c.267C>T	c.(265-267)cgC>cgT	p.R89R	TOR3A_uc010pnd.2_5'UTR	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	Homo sapiens torsin family 3, member A (TOR3A), mRNA.	89					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CAGGCTGGCGCCTTCCTCTGT	0.577000														9			5		0	0	0.000602	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013023	73013023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:73013023C>T	uc003hgg.2	+	3	1161	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	NPFFR2_uc010iig.2_Missense_Mutation_p.H137Y|NPFFR2_uc003hgi.2_Missense_Mutation_p.H256Y|NPFFR2_uc003hgh.2_Missense_Mutation_p.H253Y	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	355					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGCAGTTCCTCACACAGGCAG	0.502000														46			26		0	0	0.003954	0	0
C20orf94	128710	broad.mit.edu	37	20	10602039	10602039	+	Silent	SNP	C	T	T	rs148003716	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:10602039C>T	uc010zre.2	+	6	663	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	161							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						GTGCAAAGCTCCGGAGAAATG	0.403000														36			13		0	0	0.002450	0	0
ZNF646	9726	broad.mit.edu	37	16	31090251	31090251	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:31090251A>G	uc002eap.3	+	1	2895	c.2606A>G	c.(2605-2607)aAc>aGc	p.N869S	ZNF646_uc021tgu.1_Missense_Mutation_p.N869S	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACTTCCAGAACCATAGGCCT	0.642000														55			33		0	0	0.013726	0	0
PSME4	23198	broad.mit.edu	37	2	54153116	54153116	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:54153116G>A	uc002rxp.2	-	12	1694	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PSME4_uc010yop.1_Silent_p.F432F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.F531F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	546					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTAAGACGAAATCCTCAA	0.363000														41			21		0	0	0.002780	0	0
LPHN2	23266	broad.mit.edu	37	1	82450271	82450271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:82450271G>A	uc001dit.4	+	18	3417	c.3236G>A	c.(3235-3237)cGa>cAa	p.R1079Q	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R1079Q|LPHN2_uc001div.3_Missense_Mutation_p.R1079Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R1079Q|LPHN2_uc001diw.3_Missense_Mutation_p.R663Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1092					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R1079Q(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCAGGTACGAAAAGAATAT	0.423000														80			42		0	0	0.010771	0	0
NTRK1	4914	broad.mit.edu	37	1	156849841	156849841	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:156849841C>T	uc001fqh.1	+	15	2153	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	NTRK1_uc001fqf.1_Silent_p.I663I|NTRK1_uc009wsi.1_Silent_p.I398I|NTRK1_uc001fqi.1_Silent_p.I693I|NTRK1_uc009wsk.1_Silent_p.I696I	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	699	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	p.I699V(1)		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)	CCGAGAGCATCCTGTACCGTA	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				53			22		0	0	0.014323	0	0
BCAN	63827	broad.mit.edu	37	1	156626126	156626126	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:156626126G>A	uc001fpp.3	+	8	2331	c.1995G>A	c.(1993-1995)gaG>gaA	p.E665E		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	665	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGAGGAGGAAGGGGTCC	0.647000														91			40		0	0	0.008740	0	0
KCNB2	9312	broad.mit.edu	37	8	73849566	73849566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:73849566G>A	uc003xzb.3	+	2	2564	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	659					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)			AGAGAGAAAGGACCTGCTGCC	0.562000														35			15		0	0	0.002450	0	0
MARK1	4139	broad.mit.edu	37	1	220826538	220826538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:220826538G>A	uc009xdw.3	+	15	2432	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	MARK1_uc001hmn.4_Missense_Mutation_p.R611Q|MARK1_uc010pun.2_Missense_Mutation_p.R611Q|MARK1_uc001hmm.4_Missense_Mutation_p.R589Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	611					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGCTCAAGCCGAAGCACTTTC	0.567000														54			31		0	0	0.008361	0	0
CHRM3	1131	broad.mit.edu	37	1	240071997	240071997	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240071997G>C	uc021plc.1	+	0	1246	c.1246G>C	c.(1246-1248)Gat>Cat	p.D416H	CHRM3_uc001hyp.3_Missense_Mutation_p.D416H	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	416					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)	GAGCGTGGACGATGGAGGCAG	0.557000														12			11		0	0	0.010729	0	0
RUVBL1	8607	broad.mit.edu	37	3	127817732	127817732	+	Silent	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:127817732T>C	uc003ekh.3	-	6	914	c.810A>G	c.(808-810)gaA>gaG	p.E270E	RUVBL1_uc003ekf.3_Silent_p.E210E|RUVBL1_uc010hss.3_Silent_p.E270E	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	270					CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|cell division|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|membrane|microtubule organizing center|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TACCTGTGATTTCTGTCTTCT	0.542000														57			36		0	0	0.006999	0	0
JAG2	3714	broad.mit.edu	37	14	105624096	105624096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:105624096G>A	uc001yqg.3	-	2	826	c.422C>T	c.(421-423)tCc>tTc	p.S141F	JAG2_uc001yqh.3_Missense_Mutation_p.S141F	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	141					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAGGGTAAAGGAGCGCTGCAG	0.657000														0			2		0	0	0.004672	0	0
OR51L1	119682	broad.mit.edu	37	11	5021142	5021142	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5021142C>T	uc010qyu.2	+	0	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V310L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAGTTTGTCCTAAGGAGGA	0.403000														38			17		0	0	0.007413	0	0
CRISP3	10321	broad.mit.edu	37	6	49696553	49696553	+	Missense_Mutation	SNP	C	T	T	rs113164514		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:49696553C>T	uc021zai.1	-	7	785	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	CRISP3_uc003ozs.3_Missense_Mutation_p.E223K	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	210					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGAGATCTTCGTACTTGCAA	0.358000														50			59		0	0	0.014410	0	0
NPR2	4882	broad.mit.edu	37	9	35801659	35801659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:35801659G>A	uc003zyd.3	+	7	1456	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	NPR2_uc010mlb.3_Missense_Mutation_p.E486K	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	486					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCTGGAGAAGGAGCTGGCTAG	0.562000														26			30		0	0	0.009535	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372901	372902	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:372901_372902CC>TT	uc001lpb.3	+	3	407_408	c.398_399CC>TT	c.(397-399)gcc>gTT	p.A133V		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	133						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		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)		TGTGGGGGCGCCGTGGGCCACC	0.708000														27			9		0	0	0.004672	0	0
CXADR	1525	broad.mit.edu	37	21	18933054	18933054	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:18933054C>T	uc002yki.3	+	4	830	c.606C>T	c.(604-606)gcC>gcT	p.A202A	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Intron|CXADR_uc002ykj.2_Silent_p.A202A	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	p.K200_N201insK(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAAAAATGCCTCTTCTGAGT	0.378000														59			40		0	0	0.006999	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117884	117884	+	RNA	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrGL000205.1:117884G>A	uc002kgk.4	+	0		c.1262G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CAATCTCAACGAACAAAACTA	0.522000														153			9		0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40733224	40733224	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:40733224G>A	uc002xkg.3	-	24	3709	c.3525C>T	c.(3523-3525)atC>atT	p.I1175I	PTPRT_uc010ggj.3_Silent_p.I1194I|PTPRT_uc010ggi.3_Silent_p.I378I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1175	Tyrosine-protein phosphatase 2.				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)				ATTCATCTTTGATTTGGCTGG	0.458000														63			35		0	0	0.007835	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420542	56420542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:56420542C>T	uc002rzn.3	+	1	1709	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	403										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGACGGGTCACCCCATCACCG	0.607000														9			6		0	0	0.001168	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080210	57080210	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:57080210A>C	uc001njr.3	-	3	2264	c.1952T>G	c.(1951-1953)gTg>gGg	p.V651G	TNKS1BP1_uc001njs.3_Missense_Mutation_p.V651G|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.V102G	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	651	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGCTAGGGTCACGGCCTCCTC	0.657000														38			25		0	0	0.003330	0	0
TESC	54997	broad.mit.edu	37	12	117494655	117494655	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:117494655G>A	uc001twh.3	-	2	329	c.165C>T	c.(163-165)ctC>ctT	p.L55L	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Intron	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	55					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGATGGGGTTGAGCTCCAGGT	0.517000														46			47		0	0	0.014410	0	0
ANO3	63982	broad.mit.edu	37	11	26463531	26463531	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:26463531C>G	uc001mqt.4	+	1	258	c.113C>G	c.(112-114)cCt>cGt	p.P38R	ANO3_uc010rdr.2_Missense_Mutation_p.P22R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	38						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGATCCCTGCCTTGCCTCGCC	0.443000														104			72		0	0	0.014410	0	0
NCOA3	8202	broad.mit.edu	37	20	46279928	46279928	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:46279928A>C	uc002xtk.3	+	19	4115	c.3854A>C	c.(3853-3855)aAt>aCt	p.N1285T	NCOA3_uc002xtl.3_Missense_Mutation_p.N1281T|NCOA3_uc002xtn.3_Missense_Mutation_p.N1284T|NCOA3_uc010ght.2_Missense_Mutation_p.N1276T|NCOA3_uc002xtm.3_Missense_Mutation_p.N1280T|NCOA3_uc010zyc.2_Missense_Mutation_p.N1080T	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1285	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCACCTCCTAATGTGACTGCT	0.537000														45			27		0	0	0.003954	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414190	22414190	+	Silent	SNP	T	C	C	rs28695837	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:22414190T>C	uc001yuf.3	+	0	729	c.489T>C	c.(487-489)caT>caC	p.H163H	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GCACCACCCATATCATTGTTA	0.493000														132			4		0	0	0.000602	0	0
SGIP1	84251	broad.mit.edu	37	1	67091554	67091554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:67091554C>T	uc001dcr.3	+	1	252	c.35C>T	c.(34-36)gCc>gTc	p.A12V	MIR3117_uc021oon.1_5'Flank	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	12					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACAAGGAAGGCCTTTGGAATA	0.393000														53			28		0	0	0.003271	0	0
FAM46D	169966	broad.mit.edu	37	X	79698072	79698072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:79698072G>A	uc022bzm.1	+	0	34	c.34G>A	c.(34-36)Gat>Aat	p.D12N	FAM46D_uc004edl.1_Missense_Mutation_p.D12N|FAM46D_uc004edm.2_Missense_Mutation_p.D12N	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	12										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCTCACTTGGGATCAAGTTAT	0.363000														24			11		0	0	0.008291	0	0
USHBP1	83878	broad.mit.edu	37	19	17361198	17361198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:17361198C>T	uc002nfs.1	-	12	2061	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	USHBP1_uc002nfr.1_Missense_Mutation_p.A276T|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.A586T	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	650							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCCGGTGGGCTCCTCGGAAG	0.667000														44			26		0	0	0.010818	0	0
FAM135B	51059	broad.mit.edu	37	8	139323150	139323150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:139323150G>A	uc003yuy.3	-	2	262	c.91C>T	c.(91-93)Cga>Tga	p.R31*	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	31								p.R31L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGGTCACTCGGATCTGGTAA	0.488000										HNSCC(54;0.14)				45			19		0	0	0.014323	0	0
ARID1A	8289	broad.mit.edu	37	1	27106648	27106649	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27106648_27106649GG>AA	uc001bmv.1	+	19	6632_6633	c.6259_6260GG>AA	c.(6259-6261)gga>AAa	p.G2087K	ARID1A_uc001bmu.1_Missense_Mutation_p.G1870K|ARID1A_uc001bmx.1_Missense_Mutation_p.G933K|ARID1A_uc009vsm.1_Missense_Mutation_p.G415K|ARID1A_uc009vsn.1_Missense_Mutation_p.G329K	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2087					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G2087R(2)|p.G2087E(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACAC	0.589000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									52			38		0	0	0.004672	0	0
FAM47A	158724	broad.mit.edu	37	X	34148254	34148254	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:34148254C>T	uc004ddg.3	-	0	2194	c.2142G>A	c.(2140-2142)ttG>ttA	p.L714L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	714								p.P713T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGGTCAATCAAAGGTTCAT	0.428000														84			52		0	0	0.014410	0	0
WDR44	54521	broad.mit.edu	37	X	117529212	117529212	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117529212G>A	uc004eqn.3	+	6	1389	c.958_splice	c.e6-1	p.E320_splice	WDR44_uc004eqo.3_Splice_Site_p.E320_splice|WDR44_uc011mtr.2_Splice_Site_p.E295_splice|WDR44_uc010nqi.3_Splice_Site_p.E30_splice	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	320						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATATTTCCAGGAAAATGGAAA	0.348000														16			16		0	0	0.003163	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874906	20874906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:20874906C>T	uc010sii.2	+	8	1299	c.944C>T	c.(943-945)tCc>tTc	p.S315F	SLCO1C1_uc010sij.2_Missense_Mutation_p.S266F|SLCO1C1_uc009zip.3_Missense_Mutation_p.S149F|SLCO1C1_uc001rei.3_Missense_Mutation_p.S315F|SLCO1C1_uc010sik.2_Missense_Mutation_p.S197F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	315					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTGAGAAATCCAAGTTTATT	0.373000														29			17		0	0	0.004990	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339751	50339752	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:50339751_50339752CC>TT	uc004dpe.2	-	8	4451_4452	c.4425_4426GG>AA	c.(4423-4428)ggggaa>ggAAaa	p.E1476K	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1476	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGTTGCTCTTCCCCGAGCTTGA	0.525000														31			22		0	0	0.004672	0	0
OR13C8	138802	broad.mit.edu	37	9	107331456	107331456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:107331456G>A	uc011lvo.2	+	0	8	c.8G>A	c.(7-9)aGg>aAg	p.R3K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AATATGGAAAGGACCAACGAT	0.398000														22			48		0	0	0.014410	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:248458252G>A	uc010pzj.2	-	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000														75			36		0	0	0.004878	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008617	88008617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:88008617G>A	uc022bzq.1	+	0	202	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	CPXCR1_uc004efd.4_Missense_Mutation_p.E68K|CPXCR1_uc004efc.4_Missense_Mutation_p.E68K	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	68						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCAAGCAGCAGAAAACAGCGA	0.448000														21			12		0	0	0.010729	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906736	164906736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:164906736C>T	uc003fej.4	-	1	2327	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	SLITRK3_uc003fek.3_Missense_Mutation_p.G628E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G628E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	628						integral to membrane		p.P627T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGAGAATCTCCAGGCTGGGC	0.547000										HNSCC(40;0.11)				21			11		0	0	0.008291	0	0
BRD8	10902	broad.mit.edu	37	5	137475806	137475807	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137475806_137475807CC>TT	uc003lcf.1	-	26	3719_3720	c.3664_3665GG>AA	c.(3664-3666)gga>AAa	p.G1222K	NME5_uc003lce.3_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1222					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTGGTTCTCCTTCCAGACTA	0.416000														69			23		0	0	0.004672	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806718	6806718	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:6806718C>T	uc001mer.2	+	0	471	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTCCTGGATCCTGGCATCCC	0.522000														53			27		0	0	0.006320	0	0
COL6A6	131873	broad.mit.edu	37	3	130311923	130311923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:130311923G>A	uc010htl.3	+	14	4421	c.4390G>A	c.(4390-4392)Gga>Aga	p.G1464R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1464	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						TGGGGAAAATGGAATTGACGG	0.368000														175			89		0	0	0.014410	0	0
C16orf5	29965	broad.mit.edu	37	16	4564078	4564078	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:4564078C>T	uc002cwu.3	-	1	349	c.54G>A	c.(52-54)ctG>ctA	p.L18L	C16orf5_uc002cwv.3_Silent_p.L18L|C16orf5_uc002cww.3_Silent_p.L18L|C16orf5_uc010uxl.2_Silent_p.L18L|C16orf5_uc010uxm.2_Silent_p.L18L|C16orf5_uc010btu.3_Intron	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	Homo sapiens chromosome 16 open reading frame 5 (C16orf5), transcript variant 2, mRNA.	18	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				NS(1)|endometrium(1)|lung(2)|ovary(1)	5		Ovarian(90;0.17)				TTTTCTCTTCCAGAAGTGGGG	0.607000														12			6		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82784258	82784258	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:82784258G>A	uc003uhx.2	-	1	1988	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	PCLO_uc003uhv.2_Silent_p.L567L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	513	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTGCAGAGGTTTTCCA	0.512000														265			298		0	0	0.014410	0	0
ATM	472	broad.mit.edu	37	11	108224518	108224518	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:108224518C>T	uc001pkb.1	+	59	9082	c.8697C>T	c.(8695-8697)atC>atT	p.I2899I	ATM_uc009yxr.1_Silent_p.I2899I|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Silent_p.I1551I	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2899	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGGGCAAAATCCTTCCTACTC	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				126			59		0	0	0.014410	0	0
ERBB4	2066	broad.mit.edu	37	2	212587144	212587145	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:212587144_212587145CC>AT	uc002veg.1	-	6	954_955	c.856_857GG>AT	c.(856-858)gga>ATa	p.G286I	ERBB4_uc002veh.1_Missense_Mutation_p.G286I|ERBB4_uc010zji.1_Missense_Mutation_p.G286I|ERBB4_uc010zjj.1_Missense_Mutation_p.G286I|ERBB4_uc010fut.1_Missense_Mutation_p.G286I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	286	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.Y285C(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAGAATGCTCCATATGTGTAC	0.347000										TSP Lung(8;0.080)				15			14		0	0	0.004672	0	0
MNAT1	4331	broad.mit.edu	37	14	61264836	61264836	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:61264836C>G	uc001xfd.3	+	2	396	c.274C>G	c.(274-276)Cta>Gta	p.L92V	MNAT1_uc010apq.2_Missense_Mutation_p.L92V|MNAT1_uc001xfe.3_Missense_Mutation_p.L92V	NM_002431	NP_002422	P51948	MAT1_HUMAN	Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA.	92					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	p.L92>?(2)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		TTTTCCTAGTCTAAGAGAATA	0.279000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						52			26		0	0	0.012213	0	0
DDX59	83479	broad.mit.edu	37	1	200613540	200613540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:200613540C>T	uc009wzk.3	-	7	1945	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	DDX59_uc010ppl.1_Intron	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	568	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGAATGGATCCTGTGGGCTTT	0.378000														104			50		0	0	0.014410	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979074	119979074	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:119979074G>A	uc010inb.3	+	4	3967	c.3771G>A	c.(3769-3771)tgG>tgA	p.W1257*	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Nonsense_Mutation_p.W1127*	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	0						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGGGGATGGAGACGCCAAA	0.393000														49			35		0	0	0.004289	0	0
LARP6	55323	broad.mit.edu	37	15	71124524	71124525	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:71124524_71124525GG>AA	uc002ass.3	-	2	1413_1414	c.1342_1343CC>TT	c.(1342-1344)ccc>TTc	p.P448F		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	448					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCGTACCGGGGCTTTTCTCC	0.614000														105			22		0	0	0.004672	0	0
INF2	64423	broad.mit.edu	37	14	105173364	105173364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:105173364C>T	uc001ypb.2	+	6	1104	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	INF2_uc001ypc.2_Missense_Mutation_p.R321W|INF2_uc010awz.1_5'Flank	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	321	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTCGTGAACCGGGCCGTGCT	0.711000														11			7		0	0	0.001984	0	0
OR10H1	26539	broad.mit.edu	37	19	15918348	15918348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:15918348G>A	uc002nbq.2	-	0	589	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCCACAGAAGGCGAGGTGGAA	0.617000														50			38		0	0	0.011902	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843053	22843053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:22843053G>A	uc002zwc.1	-	3	1447	c.671C>T	c.(670-672)aCc>aTc	p.T224I	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.T224I	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCTTAATGAGGTATGAACATT	0.368000														81			46		0	0	0.014410	0	0
DSG3	1830	broad.mit.edu	37	18	29049253	29049253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29049253C>T	uc002kws.3	+	11	1947	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	613					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			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)			AGGCCGCACTCAGGGAGGCTG	0.592000														52			25		0	0	0.003330	0	0
AMOTL2	51421	broad.mit.edu	37	3	134086550	134086550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:134086550G>A	uc003eqf.2	-	2	1121	c.1004C>T	c.(1003-1005)cCa>cTa	p.P335L	AMOTL2_uc003eqg.1_Missense_Mutation_p.P277L|AMOTL2_uc003eqh.1_Missense_Mutation_p.P277L|AMOTL2_uc003eqe.1_5'Flank	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	277										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GAGAGCAGCTGGATGTGGGGG	0.667000														20			16		0	0	0.004007	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077250	45077250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:45077250C>T	uc003cok.4	+	2	539	c.443C>T	c.(442-444)aCc>aTc	p.T148I		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	148	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGACATGACCGGCGCCCGC	0.667000														32			22		0	0	0.012319	0	0
LRRC8B	23507	broad.mit.edu	37	1	90050181	90050181	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:90050181C>T	uc001dni.3	+	6	2479	c.1972C>T	c.(1972-1974)Cta>Tta	p.L658L	LRRC8B_uc001dnh.3_Silent_p.L658L|LRRC8B_uc001dnj.3_Silent_p.L658L	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	658						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ATTATCTAACCTAGAGCAGCT	0.378000														113			49		0	0	0.014410	0	0
DUSP27	92235	broad.mit.edu	37	1	167097200	167097201	+	Missense_Mutation	DNP	GG	AA	AA	rs149238405		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:167097200_167097201GG>AA	uc001geb.1	+	4	2848_2849	c.2832_2833GG>AA	c.(2830-2835)acggag>acAAag	p.E945K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	945	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.T944K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCTCAGGACGGAGGAAAAACC	0.505000														28			16		0	0	0.004672	0	0
NRK	203447	broad.mit.edu	37	X	105152766	105152766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:105152766G>A	uc004emd.3	+	12	1436	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	NRK_uc010npc.1_Missense_Mutation_p.R46K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	378							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACCAGCAGCAGATGCAGACCA	0.493000										HNSCC(51;0.14)				39			16		0	0	0.006122	0	0
MICAL3	57553	broad.mit.edu	37	22	18304888	18304888	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:18304888A>C	uc002zng.4	-	23	3709	c.3356T>G	c.(3355-3357)tTg>tGg	p.L1119W	MICAL3_uc011agl.2_Missense_Mutation_p.L1035W	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1119	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGGCACGGCAAACGCAGCTC	0.617000														48			26		0	0	0.004656	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962795	73962795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:73962795G>A	uc004eby.3	-	2	2214	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	533					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGCTCCTTACGGGTTACTTTT	0.423000														37			36		0	0	0.003755	0	0
COX7B	1349	broad.mit.edu	37	X	77155057	77155057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:77155057C>T	uc004ecu.1	+	0	97	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_001866	NP_001857	P24311	COX7B_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb (COX7B), nuclear gene encoding mitochondrial protein, mRNA.	3					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACGATGTTTCCCTTGGTCAA	0.453000														27			19		0	0	0.007413	0	0
C4orf27	54969	broad.mit.edu	37	4	170663204	170663204	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:170663204G>A	uc003isl.4	-	4	617	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	Homo sapiens chromosome 4 open reading frame 27 (C4orf27), mRNA.	184						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGTTTTTCAAGAGATTGATTT	0.358000														58			21		0	0	0.012319	0	0
TP63	8626	broad.mit.edu	37	3	189608669	189608669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:189608669G>A	uc003fry.2	+	12	1833	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.D488N|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Missense_Mutation_p.D403N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	582	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTACTCCATGGATGTAAGTAA	0.408000										HNSCC(45;0.13)				31			20		0	0	0.010504	0	0
SLIT2	9353	broad.mit.edu	37	4	20568996	20568996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:20568996C>T	uc003gpr.1	+	26	3041	c.2837C>T	c.(2836-2838)cCa>cTa	p.P946L	SLIT2_uc003gps.1_Missense_Mutation_p.P938L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	946	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCACCTGTCCATATGGTTTC	0.383000														102			41		0	0	0.010771	0	0
ZNF227	7770	broad.mit.edu	37	19	44739315	44739315	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:44739315C>T	uc002oyu.3	+	5	937	c.732C>T	c.(730-732)ccC>ccT	p.P244P	ZNF227_uc010xwu.2_Silent_p.P193P|ZNF227_uc002oyv.3_Silent_p.P244P|ZNF227_uc010xwv.2_Silent_p.P193P|ZNF227_uc010xww.2_Silent_p.P165P|ZNF227_uc002oyw.3_Silent_p.P216P|ZNF227_uc010ejh.3_Silent_p.P237P|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGAAATTACCCTTAGGAGAGA	0.428000														40			10		0	0	0.006214	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103052562	103052562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:103052562G>A	uc001phn.1	+	39	6568	c.6424G>A	c.(6424-6426)Gaa>Aaa	p.E2142K	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.E2142K	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2142	AAA 2 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAATAATCTTGAAAATTGGAT	0.303000														6			5		0	0	0.001168	0	0
EMB	133418	broad.mit.edu	37	5	49699070	49699070	+	Silent	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:49699070A>T	uc003jom.3	-	5	1068	c.819T>A	c.(817-819)ctT>ctA	p.L273L	EMB_uc010ivq.3_Silent_p.L67L|EMB_uc003jol.3_Silent_p.L204L|EMB_uc011cpy.2_Silent_p.L223L	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	273						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TGGCCACTAAAAGAATCACCT	0.378000														53			20		0	0	0.010504	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722489	12722489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:12722489G>A	uc004cuz.2	+	10	1588	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FRMPD4_uc011mij.2_Missense_Mutation_p.G353E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	361	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAGAATGGGGATTAGAGACT	0.358000														70			35		0	0	0.004289	0	0
C20orf26	26074	broad.mit.edu	37	20	20209001	20209001	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:20209001C>T	uc002wru.3	+	17	2155	c.2041C>T	c.(2041-2043)Cta>Tta	p.L681L	C20orf26_uc010zse.2_Silent_p.L661L|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.L37L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	681										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AATTTCCTTCCTAGAGACATT	0.338000														115			69		0	0	0.014410	0	0
DSPP	1834	broad.mit.edu	37	4	88533473	88533474	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:88533473_88533474GG>AA	uc003hqu.3	+	4	256	c.136_splice	c.e4-1	p.D46_splice		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	46					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TTCTTTTTCAGGATGAGTTAAA	0.381000														20			11		0	0	0.004672	0	0
SGSM2	9905	broad.mit.edu	37	17	2274703	2274704	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:2274703_2274704CC>TT	uc002fum.4	+	12	1748_1749	c.1571_1572CC>TT	c.(1570-1572)ccc>cTT	p.P524L	SGSM2_uc002fun.4_Missense_Mutation_p.P479L|SGSM2_uc010vqw.2_Missense_Mutation_p.P479L|SGSM2_uc002fuo.2_Missense_Mutation_p.P67L	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	479						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCTGCATCCCCGACCGGTGAG	0.663000														38			28		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100681427	100681427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100681427C>T	uc003uxp.1	+	2	6783	c.6730C>T	c.(6730-6732)Cct>Tct	p.P2244S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2244	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAGCAACTCCTGTTGACAC	0.498000														352			357		0	0	0.014410	0	0
ZNF746	155061	broad.mit.edu	37	7	149171825	149171825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:149171825G>A	uc010lpi.2	-	6	1859	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	ZNF746_uc003wfw.2_Missense_Mutation_p.R529C	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	529					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCAGCATGCGATGGCGGATG	0.701000														10			14		0	0	0.001855	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687287	8687287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:8687287G>A	uc001quo.1	-	5	772	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	203	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCACAAATCCGAAAATAATTG	0.398000														39			34		0	0	0.012213	0	0
COL5A1	1289	broad.mit.edu	37	9	137726842	137726842	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:137726842A>G	uc004cfe.3	+	64	5544	c.5162A>G	c.(5161-5163)aAc>aGc	p.N1721S	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1721	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGAGGGCAACCCTGTGGGT	0.647000														3			8		0	0	0.004482	0	0
OR2G3	81469	broad.mit.edu	37	1	247769793	247769793	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:247769793G>A	uc010pyz.2	+	0	906	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGCTCTGAGGAAACTTCTCT	0.393000														63			43		0	0	0.011902	0	0
DAB1	1600	broad.mit.edu	37	1	57481073	57481073	+	Silent	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:57481073G>T	uc009vzx.1	-	11	1247	c.927C>A	c.(925-927)tcC>tcA	p.S309S	DAB1_uc001cyt.1_Silent_p.S307S|DAB1_uc001cyq.1_Silent_p.S307S|DAB1_uc001cyr.1_Silent_p.S223S|DAB1_uc009vzw.1_Silent_p.S291S|DAB1_uc001cys.1_Silent_p.S309S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	342					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GACCCCAGAAGGACGGGAGGA	0.607000														45			18		1.45105e-14	1.4964e-14	0.006122	1	0
ELAC2	60528	broad.mit.edu	37	17	12903527	12903527	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:12903527G>A	uc002gnz.4	-	14	1486	c.1369C>T	c.(1369-1371)Cag>Tag	p.Q457*	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Nonsense_Mutation_p.Q85*|ELAC2_uc002gnx.4_Nonsense_Mutation_p.Q217*|ELAC2_uc010vvo.2_Nonsense_Mutation_p.Q255*|ELAC2_uc010vvp.2_Nonsense_Mutation_p.Q438*|ELAC2_uc010vvq.2_Nonsense_Mutation_p.Q456*|ELAC2_uc010vvr.2_Nonsense_Mutation_p.Q417*	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	457					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACGCTCTGCTGGAAGTTGGGA	0.582000														41			15		0	0	0.003163	0	0
PAK7	57144	broad.mit.edu	37	20	9546702	9546702	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:9546702G>A	uc002wnl.2	-	5	1865	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	PAK7_uc002wnk.2_Silent_p.V440V|PAK7_uc002wnj.2_Silent_p.V440V|PAK7_uc010gby.1_Silent_p.V440V	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	440	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCCTGGGCTGACCACCAGCT	0.617000														65			50		0	0	0.014410	0	0
ZNF668	79759	broad.mit.edu	37	16	31072632	31072632	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:31072632C>T	uc021tgt.1	-	3	2042	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P	ZNF668_uc010cag.2_Silent_p.P539P|ZNF668_uc010caf.3_Silent_p.P539P|ZNF668_uc002eao.3_Silent_p.P539P	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCGGAGCTCCGGGTGTGAGC	0.652000														60			26		0	0	0.003954	0	0
C6	729	broad.mit.edu	37	5	41159225	41159225	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:41159225C>T	uc003jmk.2	-	11	2025	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	C6_uc003jml.1_Silent_p.K605K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	605	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCTTGTCGCTTCTCCCCCT	0.473000														98			52		0	0	0.014410	0	0
WEE2	494551	broad.mit.edu	37	7	141414204	141414204	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141414204C>T	uc003vwn.2	+	2	945	c.539_splice	c.e2+1	p.L180_splice	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.	180					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)					AAGAGGAGATCTGTAAGTGCT	0.368000														49			29		0	0	0.006320	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079467	38079468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:38079467_38079468GG>AA	uc002htj.2	-	2	393_394	c.223_224CC>TT	c.(223-225)ccg>TTg	p.P75L	ORMDL3_uc002hti.1_Non-coding_Transcript|ORMDL3_uc002htk.2_Missense_Mutation_p.P75L	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Homo sapiens ORM1-like 3 (S. cerevisiae) (ORMDL3), mRNA.	75					ceramide metabolic process	SPOTS complex|integral to membrane	protein binding	p.P75T(2)		endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GCCCTGGTCCGGGGTCTCAAAG	0.564000														94			38		0	0	0.004672	0	0
PCK1	5105	broad.mit.edu	37	20	56140566	56140566	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:56140566C>T	uc002xyn.4	+	9	1738	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	PCK1_uc010zzm.2_Silent_p.F208F	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	525					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGCAAATTCCTCTGGCCAG	0.557000														54			26		0	0	0.005443	0	0
KIAA1468	57614	broad.mit.edu	37	18	59911996	59911996	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:59911996G>A	uc002lil.3	+	11	1836	c.1621_splice	c.e11-1	p.E541_splice	KIAA1468_uc002lik.1_Splice_Site_p.E541_splice|KIAA1468_uc010xel.2_Splice_Site_p.E541_splice|KIAA1468_uc002lim.3_Splice_Site_p.E185_splice	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	541							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TATTTCTTTAGGAGTTGATCC	0.358000														40			21		0	0	0.002780	0	0
MIPEP	4285	broad.mit.edu	37	13	24443560	24443560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:24443560G>A	uc001uox.4	-	6	942	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	272					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.F271I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTGGGATAAAGAAAAATTTTA	0.398000														35			43		0	0	0.007835	0	0
SYTL4	94121	broad.mit.edu	37	X	99956463	99956463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:99956463G>A	uc004egd.4	-	4	673	c.317C>T	c.(316-318)gCc>gTc	p.A106V	SYTL4_uc010nnc.3_Missense_Mutation_p.A106V|SYTL4_uc004ege.4_Missense_Mutation_p.A106V|SYTL4_uc004egf.4_Missense_Mutation_p.A106V|SYTL4_uc004egg.4_Missense_Mutation_p.A106V	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	106	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)	CATTTCCTTGGCGCACACCTT	0.512000														90			41		0	0	0.011902	0	0
CD177	57126	broad.mit.edu	37	19	43864436	43864436	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:43864436G>A	uc002owi.3	+	5	681	c.639G>A	c.(637-639)cgG>cgA	p.R213R	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	213					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCTGTCATCGGGGGACCACCA	0.557000														18			7		0	0	0.001984	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198277	170198277	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:170198277G>A	uc003fgz.2	-	6	2110	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	598						integral to membrane	amino acid transmembrane transporter activity	p.I598I(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAACCAGAAGGATGGCCCACC	0.537000														35			25		0	0	0.003954	0	0
SUMF2	25870	broad.mit.edu	37	7	56140715	56140715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:56140715C>T	uc011kcw.2	+	2	338	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_5'UTR|SUMF2_uc003trv.3_Missense_Mutation_p.R103W|SUMF2_uc011kcy.2_Missense_Mutation_p.R103W|SUMF2_uc011kcz.2_Missense_Mutation_p.R103W|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Missense_Mutation_p.R103W	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	84						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAAAAGTATCGGACAGAAGC	0.478000														64			18		0	0	0.008871	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163853	32163853	+	RNA	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:32163853G>A	uc002ecx.3	-	0		c.22C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		CCATTCCACTGAGTCAGGGAG	0.597000														51			10		0	0	0.002450	0	0
ACACA	31	broad.mit.edu	37	17	35506859	35506859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:35506859G>A	uc002hnm.3	-	44	5688	c.5497C>T	c.(5497-5499)Cgg>Tgg	p.R1833W	ACACA_uc002hnk.3_Missense_Mutation_p.R1755W|ACACA_uc002hnl.3_Missense_Mutation_p.R1775W|ACACA_uc002hnn.3_Missense_Mutation_p.R1833W|ACACA_uc002hno.3_Missense_Mutation_p.R1870W|ACACA_uc010cuy.3_Missense_Mutation_p.R478W|ACACA_uc010wdc.2_5'UTR	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1833	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTCCCAGCCGGACAAGGTAA	0.433000														44			33		0	0	0.003755	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011221	160011221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160011221C>T	uc001fuw.2	-	1	1342	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	368						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTGCCCTCCTTCTCAGCT	0.542000														28			10		0	0	0.006214	0	0
ATP12A	479	broad.mit.edu	37	13	25283956	25283956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:25283956G>A	uc010aaa.3	+	18	3104	c.2771G>A	c.(2770-2772)gGg>gAg	p.G924E	ATP12A_uc001upp.3_Missense_Mutation_p.G918E	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	918					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACAGCTATGGGCAGGAATGG	0.537000														97			40		0	0	0.009718	0	0
NDP	4693	broad.mit.edu	37	X	43809112	43809112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:43809112C>T	uc004dga.3	-	2	914	c.335G>A	c.(334-336)gGg>gAg	p.G112E		NM_000266	NP_000257	Q00604	NDP_HUMAN	Homo sapiens Norrie disease (pseudoglioma) (NDP), mRNA.	112	CTCK.		G -> E (in ND).		canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						TCGCATGCCCCCTGAGCATCG	0.607000											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			5		0	0	0.000602	0	0
CASC5	57082	broad.mit.edu	37	15	40913692	40913692	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:40913692C>T	uc010bbs.1	+	10	1469	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	CASC5_uc010ucq.1_Silent_p.A260A|CASC5_uc001zme.3_Silent_p.A410A|CASC5_uc010bbt.1_Silent_p.A410A	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	436	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAATATTAGCCATGACCCCAG	0.363000														137			64		0	0	0.014410	0	0
ESR2	2100	broad.mit.edu	37	14	64727429	64727429	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:64727429C>T	uc001xha.1	-	4	1158	c.690G>A	c.(688-690)cgG>cgA	p.R230R	ESR2_uc001xgy.2_Silent_p.R230R|ESR2_uc001xgu.3_Silent_p.R230R|ESR2_uc001xgv.3_Silent_p.R230R|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Silent_p.R230R|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Silent_p.R230R|ESR2_uc001xgz.2_Silent_p.R230R|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	230	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTCTCTGTCTCCGCACAAGGC	0.612000														36			19		0	0	0.014323	0	0
SLPI	6590	broad.mit.edu	37	20	43882316	43882316	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:43882316T>A	uc002xnm.1	-	1	166	c.144A>T	c.(142-144)aaA>aaT	p.K48N		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	48	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGCACTCAGGTTTCTTGTATC	0.502000														51			28		0	0	0.009535	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:2550412C>T	uc002cql.3	+	6	1586	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TBC1D24_uc002cqk.3_Silent_p.F476F|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	482	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000														7			7		0	0	0.001984	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929540	94929540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:94929540G>A	uc001ydf.3	-	4	1359	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	SERPINA9_uc001yde.3_Missense_Mutation_p.P300S|SERPINA9_uc010avc.3_Missense_Mutation_p.P251S|SERPINA9_uc001ydg.3_Missense_Mutation_p.P364S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	382					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAGTAAGAGGGGCCATCCTTC	0.498000														82			37		0	0	0.006999	0	0
OR8U8	504189	broad.mit.edu	37	11	56143918	56143918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56143918G>A	uc001nit.2	+	0	819	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CAGACAAGATGGCCTCTGTCT	0.448000														118			77		0	0	0.014410	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716663	153716663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153716663G>A	uc022cig.1	-	0	617	c.617C>T	c.(616-618)tCg>tTg	p.S206L	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.S177L|SLC10A3_uc004flq.3_Missense_Mutation_p.S206L|SLC10A3_uc004flp.3_Missense_Mutation_p.S206L	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	206					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACCCAAACGAACACTTGTT	0.587000														104			55		0	0	0.014410	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053619	13053620	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:13053619_13053620GG>AA	uc003nah.2	+	4	646_647	c.273_274GG>AA	c.(271-276)gcggcg>gcAAcg	p.A92T	PHACTR1_uc011dir.2_Missense_Mutation_p.A92T|PHACTR1_uc010jpc.3_Missense_Mutation_p.A92T|PHACTR1_uc003nag.2_Missense_Mutation_p.A92T	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	92						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGAGGCTGGCGGCGATGCGTTC	0.500000														50			47		0	0	0.004672	0	0
FAM110A	83541	broad.mit.edu	37	20	826242	826242	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:826242C>T	uc002wef.1	+	1	1131	c.795C>T	c.(793-795)ccC>ccT	p.P265P	FAM110A_uc002weg.1_Silent_p.P265P|FAM110A_uc002weh.1_Silent_p.P265P	NM_001042353	NP_997004	Q9BQ89	F110A_HUMAN	Homo sapiens family with sequence similarity 110, member A (FAM110A), transcript variant 3, mRNA.	265						microtubule organizing center|spindle pole	protein binding			breast(1)|lung(2)	3						AGCGCGTTCCCTATGGCGTGT	0.687000														34			20		0	0	0.012319	0	0
C3orf36	80111	broad.mit.edu	37	3	133647198	133647198	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:133647198C>T	uc003epz.1	-	0	1459	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	Homo sapiens chromosome 3 open reading frame 36 (C3orf36), mRNA.	150								p.K149T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TTCTGACTCTCAGTTTCACCC	0.542000														45			23		0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9056299	9056299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9056299C>T	uc002mkp.3	-	2	31351	c.31147G>A	c.(31147-31149)Gac>Aac	p.D10383N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10385	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGAAGTGTCCAAAGTACTG	0.478000														96			45		0	0	0.014410	0	0
KLHL15	80311	broad.mit.edu	37	X	24006997	24006997	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:24006997G>A	uc004dba.4	-	3	1112	c.856C>T	c.(856-858)Cga>Tga	p.R286*		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	286										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATCATTCCTCGAAATACTGTA	0.438000														133			72		0	0	0.014410	0	0
OR4D10	390197	broad.mit.edu	37	11	59245615	59245616	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:59245615_59245616CC>TT	uc001nnz.1	+	0	713_714	c.713_714CC>TT	c.(712-714)tcc>tTT	p.S238F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAAGCCATCTCCACCTGCACCT	0.545000														93			65		0	0	0.004672	0	0
RGS7	6000	broad.mit.edu	37	1	240977012	240977012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240977012C>T	uc001hyt.2	-	5	412	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	RGS7_uc010pyh.2_Missense_Mutation_p.E262K|RGS7_uc010pyj.1_Missense_Mutation_p.E204K|RGS7_uc001hyu.2_Missense_Mutation_p.E288K|RGS7_uc009xgn.1_Missense_Mutation_p.E235K|RGS7_uc001hyv.2_Missense_Mutation_p.E288K|RGS7_uc001hyw.2_Missense_Mutation_p.E288K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	288					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)			AAATACTGTTCCGTGTAACTT	0.428000														30			24		0	0	0.002780	0	0
PCDH20	64881	broad.mit.edu	37	13	61986627	61986627	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:61986627G>A	uc001vid.4	-	1	1969	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PCDH20_uc010thj.2_Silent_p.F535F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	508	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGGTTGAAGGAAAATTGGAG	0.428000														113			125		0	0	0.014410	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595307	167595307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:167595307C>T	uc010kkp.3	+	7	1096	c.965C>T	c.(964-966)cCa>cTa	p.P322L		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	322										endometrium(1)|kidney(2)|lung(3)	6						AAACGACATCCAAATGGCAAG	0.532000														14			15		0	0	0.003163	0	0
HRC	3270	broad.mit.edu	37	19	49658453	49658453	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:49658453C>T	uc002pmv.3	-	0	229	c.42G>A	c.(40-42)tgG>tgA	p.W14*	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	14					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCACCCCAGCCCAGAGGACAG	0.652000														30			23		0	0	0.004656	0	0
PTPRC	5788	broad.mit.edu	37	1	198668772	198668772	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:198668772A>G	uc001gur.1	+	4	552	c.372A>G	c.(370-372)acA>acG	p.T124T	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Silent_p.T60T|PTPRC_uc009wzf.1_Silent_p.T60T|PTPRC_uc021pgy.1_Silent_p.T126T|PTPRC_uc010ppg.1_Silent_p.T60T|PTPRC_uc001guu.1_Silent_p.T167T|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	124					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACACGCAGACATTCAGCGGCT	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			48		0	0	0.014410	0	0
ARX	170302	broad.mit.edu	37	X	25033751	25033751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:25033751C>T	uc004dbp.4	-	0	315	c.104G>A	c.(103-105)cGg>cAg	p.R35Q		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CGGGCTCCTCCGGCCCAGGAT	0.612000														11			12		0	0	0.010729	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669591	25669592	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:25669591_25669592GG>AA	uc003grr.3	+	5	694_695	c.613_614GG>AA	c.(613-615)gga>AAa	p.G205K	SLC34A2_uc003grs.3_Missense_Mutation_p.G204K|SLC34A2_uc010iev.3_Missense_Mutation_p.G204K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	205					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATGCAGGTGGGAGATCGGAGT	0.510000			T	ROS1	NSCLC									32			12		0	0	0.004672	0	0
KALRN	8997	broad.mit.edu	37	3	124149592	124149592	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:124149592G>A	uc003ehg.3	+	15	2920	c.2793G>A	c.(2791-2793)cgG>cgA	p.R931R	KALRN_uc010hrv.1_Silent_p.R931R|KALRN_uc003ehf.1_Silent_p.R931R|KALRN_uc011bjy.1_Silent_p.R931R|KALRN_uc003ehh.1_Silent_p.R277R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	931					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGCAGCGGGAGCACGAGC	0.567000														29			12		0	0	0.013537	0	0
C6	729	broad.mit.edu	37	5	41149459	41149459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:41149459G>A	uc003jmk.2	-	16	2717	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	C6_uc003jml.1_Missense_Mutation_p.S836F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	836	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 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)				GTCTTGGCAGGAACCAATATG	0.423000														100			72		0	0	0.014410	0	0
CCDC11	220136	broad.mit.edu	37	18	47777163	47777163	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:47777163A>G	uc002lee.2	-	4	1052	c.961T>C	c.(961-963)Tta>Cta	p.L321L		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	321										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTCCTGTAAGTCTTGAAGG	0.423000														190			99		0	0	0.014410	0	0
TBX22	50945	broad.mit.edu	37	X	79282782	79282782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:79282782C>T	uc010nmg.1	+	6	960	c.826C>T	c.(826-828)Cct>Tct	p.P276S	TBX22_uc004edi.1_Missense_Mutation_p.P156S|TBX22_uc004edj.1_Missense_Mutation_p.P276S	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	276					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P276S(2)|p.P276A(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGAAAGAAATCCTTTTGCTAA	0.318000														33			19		0	0	0.008871	0	0
EXOSC7	23016	broad.mit.edu	37	3	45046817	45046817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:45046817G>A	uc003coi.2	+	5	555	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	EXOSC7_uc003coh.1_Missense_Mutation_p.G111R|EXOSC7_uc010his.1_Missense_Mutation_p.G95R	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	176					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GGATGAAGAGGGGTCGAAGGA	0.428000														67			34		0	0	0.004289	0	0
KCNH8	131096	broad.mit.edu	37	3	19575403	19575403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:19575403C>T	uc003cbk.1	+	15	3331	c.3136C>T	c.(3136-3138)Ctc>Ttc	p.L1046F	KCNH8_uc010hex.1_Missense_Mutation_p.L507F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1046	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCACCTAGTTCTCCCAAGCAG	0.493000														67			41		0	0	0.006230	0	0
ANAPC7	51434	broad.mit.edu	37	12	110824147	110824147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:110824147G>A	uc001tqo.2	-	5	905	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ANAPC7_uc001tqp.4_Missense_Mutation_p.P302S	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	302				P -> L (in Ref. 1; AAF05754).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						ATCAGATAAGGATCCAACATC	0.438000														224			142		0	0	0.014410	0	0
IL3RA	3563	broad.mit.edu	37	X	1497607	1497607	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:1497607C>T	uc004cps.3	+	9	1279	c.930C>T	c.(928-930)atC>atT	p.I310I	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.I232I	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	310						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGCTGCTGATCGCGCTGGGGA	0.657000														37			16		0	0	0.010504	0	0
CGNL1	84952	broad.mit.edu	37	15	57810594	57810594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:57810594G>A	uc010bfw.3	+	10	2807	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	CGNL1_uc002aeg.3_Missense_Mutation_p.E872K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	872						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATTGTAGGGAGAAATACGACA	0.473000														13			10		0	0	0.010729	0	0
RDH8	50700	broad.mit.edu	37	19	10131441	10131441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:10131441G>A	uc002mmr.3	+	3	748	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	167					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGGATTCTTCGAAAGCCTCGC	0.582000														19			14		0	0	0.004007	0	0
C12orf26	84190	broad.mit.edu	37	12	82871080	82871080	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:82871080C>T	uc001szq.3	+	10	1737	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	556								p.P556P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						TACTGGCTCCCTGTATAGAGA	0.284000														58			24		0	0	0.013726	0	0
LGR4	55366	broad.mit.edu	37	11	27389878	27389878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:27389878G>A	uc001mrj.4	-	17	2877	c.2392C>T	c.(2392-2394)Cca>Tca	p.P798S	LGR4_uc001mrk.4_Missense_Mutation_p.P774S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	798						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TACAGGACTGGATTCAGGCAA	0.393000														90			57		0	0	0.014410	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166883354	166883354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:166883354G>A	uc003qvd.1	-	12	1135	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	RPS6KA2_uc011ego.1_Missense_Mutation_p.P227L|RPS6KA2_uc010kkl.1_Missense_Mutation_p.P227L|RPS6KA2_uc003qvb.1_Missense_Mutation_p.P316L|RPS6KA2_uc003qvc.1_Missense_Mutation_p.P324L	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	316	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACAAAGAAGGGATGGCGCTT	0.507000														14			18		0	0	0.007413	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:140995273C>T	uc004fbt.3	+	3	2407	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P354S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	695							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)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)				100			46		0	0	0.011902	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044000	71044000	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:71044000A>G	uc002shf.3	-	3	590	c.513T>C	c.(511-513)agT>agC	p.S171S	CLEC4F_uc010yqv.1_Silent_p.S171S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	171					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTCCAGGGAACTCCTTAACA	0.443000														54			28		0	0	0.008361	0	0
TRIM32	22954	broad.mit.edu	37	9	119460989	119460989	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:119460989G>C	uc022bmo.1	+	0	968	c.968G>C	c.(967-969)aGa>aCa	p.R323T	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R323T|TRIM32_uc004bjx.2_Missense_Mutation_p.R323T	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	323					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTTACTTTTAGAGAGATGGAC	0.562000														19			39		0	0	0.006999	0	0
NHSL2	340527	broad.mit.edu	37	X	71360568	71360568	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:71360568A>T	uc011mqa.2	+	5	3170	c.3170A>T	c.(3169-3171)cAa>cTa	p.Q1057L	NHSL2_uc004eak.1_Missense_Mutation_p.Q691L|NHSL2_uc010nli.2_Missense_Mutation_p.Q826L	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1057										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCACTTGGTCAAAGGGTGACT	0.552000														29			24		0	0	0.003954	0	0
COL8A1	1295	broad.mit.edu	37	3	99514644	99514644	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:99514644G>A	uc003dti.1	+	2	2030	c.1902G>A	c.(1900-1902)gtG>gtA	p.V634V	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.V633V|COL8A1_uc003dth.1_Silent_p.V633V	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	633	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.K634T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGCCCCAGTGAAGTTTAACA	0.547000														32			17		0	0	0.004990	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050131	36050131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:36050131C>T	uc001uvc.3	-	1	727	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	49					anatomical structure morphogenesis	nucleus		p.Q48H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AACCGCGGCTCCTGCACTTCC	0.512000														76			90		0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21789969	21789969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:21789969G>A	uc003svc.3	+	54	8979	c.8948G>A	c.(8947-8949)cGa>cAa	p.R2983Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2983	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCAGGGTGCGACTACAGCTC	0.373000									Kartagener syndrome					13			13		0	0	0.004007	0	0
RIMS2	9699	broad.mit.edu	37	8	104987645	104987645	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:104987645A>G	uc003yls.3	+	13	2413	c.2172A>G	c.(2170-2172)tcA>tcG	p.S724S	RIMS2_uc003ylp.3_Silent_p.S946S|RIMS2_uc003ylw.2_Silent_p.S738S|RIMS2_uc003ylq.3_Silent_p.S738S|RIMS2_uc003ylr.3_Silent_p.S785S|RIMS2_uc003ylt.3_Silent_p.S331S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1008	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAATGTCATCAAACCACTGTT	0.393000										HNSCC(12;0.0054)				27			11		0	0	0.001855	0	0
KLRC1	3821	broad.mit.edu	37	12	10601904	10601904	+	Missense_Mutation	SNP	C	T	T	rs139780190		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:10601904C>T	uc001qyl.3	-	4	635	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	KLRC1_uc009zhm.2_Missense_Mutation_p.E141K|KLRC1_uc001qym.3_Missense_Mutation_p.E123K|KLRC1_uc001qyn.3_Missense_Mutation_p.E141K|KLRC1_uc001qyo.3_Missense_Mutation_p.E123K	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	141	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AAACTCTCTTCCCAAGTTCTT	0.363000														167			99		0	0	0.014410	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768449	81768449	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:81768449C>T	uc001szo.2	-	10	1391	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.E336E|PPFIA2_uc021rbh.1_Silent_p.E311E|PPFIA2_uc021rbi.1_Silent_p.E410E|PPFIA2_uc021rbj.1_Silent_p.E410E|PPFIA2_uc021rbk.1_Silent_p.E392E|PPFIA2_uc021rbl.1_Silent_p.E410E|PPFIA2_uc010sue.2_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	336										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCAGTTCAGCCTCTACTTCAG	0.428000														60			29		0	0	0.006320	0	0
OR5T1	390155	broad.mit.edu	37	11	56043654	56043654	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56043654C>T	uc001nio.1	+	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCCTGTCCTTCTGTGGATCCA	0.418000														163			78		0	0	0.014410	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924093	105924093	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:105924093G>A	uc001pja.3	-	3	1963	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	KBTBD3_uc001pjb.3_Silent_p.P441P|KBTBD3_uc009yxm.3_Silent_p.P362P	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	437										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATATGCCTCTGGGTAATGGGC	0.383000														38			18		0	0	0.008871	0	0
SPEF2	79925	broad.mit.edu	37	5	35779286	35779286	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:35779286T>A	uc003jjo.3	+	29	4396	c.4285T>A	c.(4285-4287)Tat>Aat	p.Y1429N	SPEF2_uc003jjp.1_Missense_Mutation_p.Y915N|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1429					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAATGAACTTTATTTAAGCCA	0.378000														57			20		0	0	0.014323	0	0
LPPR4	9890	broad.mit.edu	37	1	99771591	99771591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:99771591G>A	uc001dse.3	+	6	1475	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	LPPR4_uc010oue.2_Missense_Mutation_p.M381I	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	439							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCCTCTATGGATTCCGCTC	0.493000														54			34		0	0	0.005524	0	0
SYT1	6857	broad.mit.edu	37	12	79693249	79693249	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:79693249A>G	uc001sys.3	+	8	1399	c.728A>G	c.(727-729)gAa>gGa	p.E243G	SYT1_uc001syt.3_Missense_Mutation_p.E243G|SYT1_uc001syu.3_Missense_Mutation_p.E240G|SYT1_uc001syv.3_Missense_Mutation_p.E243G	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	243	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCATTGGAGAATTTAAAGTC	0.413000														84			43		0	0	0.009718	0	0
OCRL	4952	broad.mit.edu	37	X	128692675	128692675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:128692675C>T	uc004euq.3	+	6	670	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	OCRL_uc004eur.3_Nonsense_Mutation_p.Q169*	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCACAAAATCAGCCTACTGG	0.393000														53			33		0	0	0.010818	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:24884069G>A	uc001isb.2	-	19	4250	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1254	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000														34			26		0	0	0.005443	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147780	70147780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:70147780G>A	uc004dyn.3	-	5	1085	c.911C>T	c.(910-912)tCt>tTt	p.S304F	SLC7A3_uc004dyo.3_Missense_Mutation_p.S304F	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	304					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGAGTGCAGAAGAGACAGC	0.522000														32			13		0	0	0.001855	0	0
USP15	9958	broad.mit.edu	37	12	62797974	62797974	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:62797974C>T	uc001src.2	+	22	2839	c.2764_splice	c.e22-1	p.S922_splice	USP15_uc001srb.2_Splice_Site_p.S893_splice	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	922					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTTGACAGTCCAAAGCAGCA	0.388000														136			65		0	0	0.014410	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417378	150417378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:150417378C>T	uc003whq.3	+	2	426	c.286C>T	c.(286-288)Cct>Tct	p.P96S	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.P96S	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CAAGACAGATCCTGGCTGTGA	0.647000														65			13		0	0	0.001855	0	0
ATF6B	1388	broad.mit.edu	37	6	32083520	32083520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32083520G>A	uc003nzn.3	-	17	2141	c.2108C>T	c.(2107-2109)cCc>cTc	p.P703L	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.P700L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	703					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGAGGTCAGGGATGATTGAG	0.622000														156			29		0	0	0.010818	0	0
FAT3	120114	broad.mit.edu	37	11	92088413	92088413	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:92088413C>G	uc001pdj.4	+	0	3152	c.3135C>G	c.(3133-3135)gaC>gaG	p.D1045E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1045	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S1044S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTCCCAGACTTTGCTGTTG	0.498000										TCGA Ovarian(4;0.039)				78			47		0	0	0.014410	0	0
BAZ2B	29994	broad.mit.edu	37	2	160245888	160245888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:160245888G>A	uc002uao.3	-	20	3589	c.3184C>T	c.(3184-3186)Cct>Tct	p.P1062S	BAZ2B_uc002uap.3_Missense_Mutation_p.P1026S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1062					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTTCATTAGGCTTCTTTAGT	0.338000														27			44		0	0	0.014410	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176257	63176257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:63176257G>A	uc001nww.3	+	8	1775	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	503					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GATCATCTATGGAGTCTTCCC	0.488000														51			40		0	0	0.007835	0	0
TRA	0	broad.mit.edu	37	14	22180841	22180841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:22180841C>T	uc021roz.1	+	1	121	c.113C>T	c.(112-114)tCa>tTa	p.S38L						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		GTGGCATCTTCAGAGGGAGCT	0.448000														100			55		0	0	0.014410	0	0
DUSP3	1845	broad.mit.edu	37	17	41852141	41852141	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:41852141G>A	uc002ied.4	-	1	367	c.291C>T	c.(289-291)aaC>aaT	p.N97N	DUSP3_uc021tya.1_Non-coding_Transcript|DUSP3_uc002iee.4_Silent_p.N97N	NM_004090	NP_004081	P51452	DUS3_HUMAN	Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA.	97					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		AAGCGCTGAGGTTGAACTCCT	0.532000														58			42		0	0	0.007835	0	0
VPS13C	54832	broad.mit.edu	37	15	62165535	62165535	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:62165535C>T	uc002agz.3	-	77	10579	c.10488G>A	c.(10486-10488)aaG>aaA	p.K3496K	VPS13C_uc002aha.3_Silent_p.K3453K|VPS13C_uc002ahb.2_Silent_p.K3496K|VPS13C_uc002ahc.2_Silent_p.K3453K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3496					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTGATATTCCTTGTCCATTG	0.453000														134			80		0	0	0.014410	0	0
RCAN3	11123	broad.mit.edu	37	1	24840953	24840953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:24840953G>A	uc021ojc.1	+	1	263	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RCAN3_uc021ojd.1_Intron|RCAN3_uc021oje.1_Missense_Mutation_p.E31K|RCAN3_uc001bjj.3_Missense_Mutation_p.E31K|RCAN3_uc009vre.3_Missense_Mutation_p.E31K|RCAN3_uc021ojf.1_Intron|RCAN3_uc021ojg.1_Missense_Mutation_p.E31K|RCAN3_uc009vrg.3_Missense_Mutation_p.E31K|RCAN3_uc009vrd.3_Missense_Mutation_p.E31K|RCAN3_uc009vrf.3_Missense_Mutation_p.E31K	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	31					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GATTTTTGGTGAAAATGAAGA	0.433000														60			32		0	0	0.003271	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748259	19748259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:19748259C>T	uc009zzj.3	-	4	1202	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCAGGTCTCCCCCAGGGAC	0.582000														77			21		0	0	0.010504	0	0
PI16	221476	broad.mit.edu	37	6	36929703	36929703	+	Missense_Mutation	SNP	C	T	T	rs139815357	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:36929703C>T	uc021yzd.1	+	4	768	c.545C>T	c.(544-546)cCg>cTg	p.P182L	PI16_uc003omz.1_Missense_Mutation_p.P182L|PI16_uc003ona.3_Missense_Mutation_p.P182L|PI16_uc011dts.1_5'UTR	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	182						extracellular region|integral to membrane	peptidase inhibitor activity	p.P182Q(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGGGGACTCCGTGCTCCCAA	0.642000														115			35		0	0	0.005524	0	0
PDZD4	57595	broad.mit.edu	37	X	153070250	153070250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153070250C>T	uc004fja.1	-	7	1136	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PDZD4_uc004fiy.1_Missense_Mutation_p.E215K|PDZD4_uc004fiz.1_Missense_Mutation_p.E290K|PDZD4_uc004fix.2_Missense_Mutation_p.E194K|PDZD4_uc011mze.1_Missense_Mutation_p.E181K|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	290						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTCTCTTCGTTCCGGGTG	0.672000														42			18		0	0	0.007413	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967243	41967243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:41967243G>A	uc010skn.2	+	9	2670	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	PDZRN4_uc001rmq.4_Missense_Mutation_p.E630K|PDZRN4_uc009zjz.3_Missense_Mutation_p.E628K|PDZRN4_uc001rmr.3_Missense_Mutation_p.E515K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	888							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCCAAGATGGAATGGAAGGT	0.488000														62			30		0	0	0.010818	0	0
MYH15	22989	broad.mit.edu	37	3	108220605	108220605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:108220605G>A	uc003dxa.1	-	3	410	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	118	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATGCAGCACGGATGCCTCATT	0.468000														54			41		0	0	0.005524	0	0
EPPK1	83481	broad.mit.edu	37	8	144942030	144942031	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:144942030_144942031CC>TT	uc003zaa.1	-	0	5404_5405	c.5391_5392GG>AA	c.(5389-5394)tgggac>tgAAac	p.1797_1798WD>*N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1797						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACAGCAGGTCCCAGAAAGAGA	0.530000														55			24		0	0	0.004672	0	0
DSP	1832	broad.mit.edu	37	6	7583978	7583978	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7583978C>T	uc003mxp.1	+	23	6762	c.6483C>T	c.(6481-6483)tcC>tcT	p.S2161S	DSP_uc003mxq.1_Silent_p.S1562S|DSP_uc021yle.1_Silent_p.S1718S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2161	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)		TGTATCGATCCCTGAATGATC	0.483000														79			24		0	0	0.003954	0	0
TMEM108	66000	broad.mit.edu	37	3	133114782	133114782	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:133114782C>T	uc003epi.3	+	5	1950	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	TMEM108_uc003eph.3_Silent_p.F560F|TMEM108_uc003epk.3_Silent_p.F90F	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	560						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTAACCCCTTCTGTCAAGAAA	0.478000														50			25		0	0	0.004656	0	0
MFSD6	54842	broad.mit.edu	37	2	191302198	191302198	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:191302198C>T	uc002urz.2	+	2	1767	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	481					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTACAACCCTCTTTGGGGTCT	0.448000														56			72		0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57325061	57325061	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:57325061C>T	uc002qnu.2	-	6	5100	c.4749G>A	c.(4747-4749)caG>caA	p.Q1583Q	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.Q1554Q|PEG3_uc002qnv.2_Silent_p.Q1583Q|PEG3_uc002qnw.2_Silent_p.Q1459Q|PEG3_uc002qnx.2_Silent_p.Q1457Q|PEG3_uc010etr.2_Silent_p.Q1583Q|PEG3-AS1_uc010ets.2_Non-coding_Transcript	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1583					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTGGGTATTCTGGTGTCTGG	0.507000														43			17		0	0	0.010504	0	0
BRD1	23774	broad.mit.edu	37	22	50167905	50167906	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:50167905_50167906GG>AA	uc011arg.2	-	12	3313_3314	c.3299_3300CC>TT	c.(3298-3300)acc>aTT	p.T1100I	BRD1_uc011arf.2_Missense_Mutation_p.T777I|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.T1051I|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.T1182I	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	1051					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGAGGTCGCTGGTCGGCTCCCC	0.550000														141			79		0	0	0.004672	0	0
CACNA1D	776	broad.mit.edu	37	3	53699766	53699766	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:53699766C>T	uc003dgv.4	+	5	1009	c.846C>T	c.(844-846)atC>atT	p.I282I	CACNA1D_uc003dgu.4_Silent_p.I282I|CACNA1D_uc003dgy.4_Silent_p.I282I|CACNA1D_uc003dgw.4_5'Flank	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	282					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TATTTGTAATCATAATCTATG	0.328000														69			41		0	0	0.007835	0	0
STK40	83931	broad.mit.edu	37	1	36820960	36820960	+	Silent	SNP	G	A	A	rs145709842	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:36820960G>A	uc001cak.1	-	5	824	c.417C>T	c.(415-417)ctC>ctT	p.L139L	STK40_uc001cal.1_Silent_p.L144L|STK40_uc001cam.1_Silent_p.L139L|STK40_uc001can.1_Silent_p.L139L	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	139	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				AGTCCAGGACGAGGCAGATGC	0.567000														180			82		0	0	0.014410	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572057	101572057	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:101572057C>T	uc003dvp.3	+	4	802	c.687C>T	c.(685-687)ccC>ccT	p.P229P	NFKBIZ_uc003dvo.3_Silent_p.P129P|NFKBIZ_uc010hpo.3_Silent_p.P129P|NFKBIZ_uc003dvq.3_Silent_p.P229P	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AATGCAGCCCCGTTTCCCTGA	0.527000														81			40		0	0	0.005524	0	0
MPDZ	8777	broad.mit.edu	37	9	13176228	13176228	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:13176228A>C	uc010mia.1	-	18	2895	c.2838T>G	c.(2836-2838)tgT>tgG	p.C946W	MPDZ_uc003zkz.4_5'Flank|MPDZ_uc010mhz.3_Missense_Mutation_p.C946W|MPDZ_uc011lmn.2_Missense_Mutation_p.C946W|MPDZ_uc010mhy.3_Missense_Mutation_p.C946W|MPDZ_uc003zlb.4_Missense_Mutation_p.C946W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	946					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)		TTGTGTTTTCACATTCATATT	0.393000														5			3		0	0	0.004672	0	0
ZNF528	84436	broad.mit.edu	37	19	52918407	52918407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52918407G>A	uc002pzh.3	+	6	728	c.302G>A	c.(301-303)gGa>gAa	p.G101E	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTAATGCAGGAAACAAGCCT	0.378000														39			15		0	0	0.010504	0	0
KLHL13	90293	broad.mit.edu	37	X	117032885	117032885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117032885G>A	uc011mtp.2	-	7	2096	c.1963C>T	c.(1963-1965)Ctt>Ttt	p.L655F	KLHL13_uc004eqk.3_Missense_Mutation_p.L601F|KLHL13_uc004eql.3_Missense_Mutation_p.L652F|KLHL13_uc011mtn.2_Missense_Mutation_p.L492F|KLHL13_uc011mto.2_Missense_Mutation_p.L646F|KLHL13_uc011mtq.2_Missense_Mutation_p.L636F|KLHL13_uc004eqm.3_Missense_Mutation_p.L610F|KLHL13_uc022cde.1_Missense_Mutation_p.L636F	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	652					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGCAGAAAGAGGGGACTCT	0.413000														84			48		0	0	0.014410	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558522	140558522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140558522C>T	uc011dai.2	+	0	1152	c.907C>T	c.(907-909)Cga>Tga	p.R303*	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	303	Cadherin 3.				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)			AGGAGAAATTCGACTAAAGAA	0.393000														253			60		0	0	0.014410	0	0
DNAH9	1770	broad.mit.edu	37	17	11835379	11835379	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:11835379T>A	uc002gne.3	+	63	12222	c.12154T>A	c.(12154-12156)Ttt>Att	p.F4052I	DNAH9_uc010coo.3_Missense_Mutation_p.F3270I|DNAH9_uc002gnf.3_Missense_Mutation_p.F364I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4052	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCATCCTCTTTGCTCTTTG	0.483000														215			105		0	0	0.014410	0	0
VWA3B	200403	broad.mit.edu	37	2	98851177	98851177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:98851177G>A	uc002syo.3	+	16	2639	c.2375G>A	c.(2374-2376)aGg>aAg	p.R792K	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.R311K|VWA3B_uc002sym.3_Missense_Mutation_p.R792K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.R449K|VWA3B_uc002syp.1_Missense_Mutation_p.R184K|VWA3B_uc002syq.1_Missense_Mutation_p.R68K|VWA3B_uc002syr.1_Missense_Mutation_p.R109K|VWA3B_uc010fih.1_5'Flank	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	792										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						TGCAGTGAAAGGAAGGATGGC	0.527000														12			19		0	0	0.008871	0	0
OR52R1	119695	broad.mit.edu	37	11	4825583	4825583	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:4825583A>C	uc021qcs.1	-	0	28	c.28T>G	c.(28-30)Tct>Gct	p.S10A		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGGATGAGAAGAGCTGTTC	0.488000														36			22		0	0	0.012319	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858895	42858895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:42858895G>A	uc010skv.2	-	6	1228	c.941C>T	c.(940-942)gCc>gTc	p.A314V	PRICKLE1_uc001rnl.3_Missense_Mutation_p.A314V|PRICKLE1_uc010skw.2_Missense_Mutation_p.A314V|PRICKLE1_uc001rnm.3_Missense_Mutation_p.A314V	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	314					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGAATCAGAGGCATGGACGTC	0.507000														61			27		0	0	0.003954	0	0
CEBPG	1054	broad.mit.edu	37	19	33870288	33870288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:33870288C>T	uc002nup.3	+	1	466	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CEBPG_uc021usd.1_Missense_Mutation_p.P48L|CEBPG_uc021use.1_Missense_Mutation_p.P48L	NM_001806	NP_001797	P53567	CEBPG_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), gamma (CEBPG), transcript variant 1, mRNA.	48					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P48L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					GCTGTGGCTCCCAGCAAGCAG	0.562000														30			10		0	0	0.010729	0	0
PER3	8863	broad.mit.edu	37	1	7844950	7844950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:7844950G>A	uc001aop.3	+	0	237	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PER3_uc009vmg.1_Missense_Mutation_p.E5K|PER3_uc009vmh.1_Missense_Mutation_p.E5K|PER3_uc001aoo.3_Missense_Mutation_p.E5K|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.E5K	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCGCGGGGAAGCTCCTGG	0.677000														3			8		0	0	0.003080	0	0
OR10A7	121364	broad.mit.edu	37	12	55614872	55614872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55614872G>A	uc010spf.2	+	0	64	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAACAACCCCGAGATGCAAGT	0.368000														155			77		0	0	0.014410	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68693003	68693003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:68693003C>T	uc003hdq.3	-	7	993	c.928G>A	c.(928-930)Gga>Aga	p.G310R	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.G91R|TMPRSS11D_uc011caj.2_Missense_Mutation_p.G193R	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	310	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCGCCCCATCCTGTTACATAA	0.378000														90			40		0	0	0.009718	0	0
GEMIN4	50628	broad.mit.edu	37	17	649017	649017	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:649017G>A	uc002frs.1	-	1	2385	c.2266C>T	c.(2266-2268)Ctg>Ttg	p.L756L		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	756					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGCCAGGACAGGGACTTGATC	0.537000														16			3		0	0	0.009096	0	0
BARX2	8538	broad.mit.edu	37	11	129306807	129306807	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:129306807G>C	uc001qfc.4	+	1	399	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	117										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CGAGGCCCTAGCCAGCAGCGA	0.687000														19			13		0	0	0.013537	0	0
FBXO43	286151	broad.mit.edu	37	8	101153313	101153313	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:101153313T>A	uc003yjd.3	-	1	1905	c.1169A>T	c.(1168-1170)cAa>cTa	p.Q390L	FBXO43_uc003yje.3_Missense_Mutation_p.Q356L|FBXO43_uc010mbp.2_Missense_Mutation_p.Q390L	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	390					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCGAGCTTTGTTCCCGAAG	0.498000														67			50		0	0	0.014410	0	0
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:25570188C>A	uc002kwg.2	-	9	1930	c.1471G>T	c.(1471-1473)Gta>Tta	p.V491L	CDH2_uc010xbn.1_Missense_Mutation_p.V460L	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	491	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.V491I(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468000														67			35		1.66425e-11	1.71104e-11	0.004878	1	0
ICA1	3382	broad.mit.edu	37	7	8258122	8258122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:8258122C>T	uc003sro.4	-	5	528	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	ICA1_uc010ktr.3_Missense_Mutation_p.R131Q|ICA1_uc003srm.3_Missense_Mutation_p.R131Q|ICA1_uc003srn.4_Missense_Mutation_p.R57Q|ICA1_uc003srq.3_Missense_Mutation_p.R131Q|ICA1_uc003srr.3_Missense_Mutation_p.R130Q|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.R131Q	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	131	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CAAAGGATTTCGTAAGGCCAA	0.478000														28			33		0	0	0.012213	0	0
ZNF536	9745	broad.mit.edu	37	19	30936114	30936114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:30936114G>A	uc002nsu.1	+	1	1783	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ZNF536_uc010edd.1_Missense_Mutation_p.E549K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCAACCACGAAGACACTTT	0.552000														76			47		0	0	0.014410	0	0
BTAF1	9044	broad.mit.edu	37	10	93767976	93767976	+	Silent	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:93767976T>C	uc001khr.3	+	25	3855	c.3757T>C	c.(3757-3759)Ttg>Ctg	p.L1253L		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1253					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGGAAAAAATTGGAAAATTA	0.363000														49			43		0	0	0.011902	0	0
BHMT2	23743	broad.mit.edu	37	5	78384391	78384391	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:78384391C>T	uc003kft.3	+	7	1145	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	BHMT2_uc011cth.2_Silent_p.D298D	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	362					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CAAAGCCAGACTTCTAAGGAG	0.463000														38			18		0	0	0.006122	0	0
OR10G8	219869	broad.mit.edu	37	11	123900949	123900949	+	Missense_Mutation	SNP	C	T	T	rs150048996		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:123900949C>T	uc001pzp.1	+	0	620	c.620C>T	c.(619-621)tCg>tTg	p.S207L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATAGTGGCCTCGGGCTGCTTT	0.532000														83			52		0	0	0.014410	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661873	40661873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:40661873C>T	uc011aor.2	+	4	1850	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.P547S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P351S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	547					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCACCCCCTCCCTGAAAACCA	0.522000														39			20		0	0	0.007413	0	0
DYRK3	8444	broad.mit.edu	37	1	206811089	206811089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:206811089C>T	uc001hej.3	+	1	340	c.172C>T	c.(172-174)Cca>Tca	p.P58S	DYRK3_uc001hek.3_Non-coding_Transcript|DYRK3_uc001hei.3_Missense_Mutation_p.P38S	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	58					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGAACCACCTCCACCCAGAAG	0.403000														64			41		0	0	0.010771	0	0
BCL9L	283149	broad.mit.edu	37	11	118769512	118769512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118769512G>A	uc001pug.3	-	7	5077	c.4112C>T	c.(4111-4113)cCc>cTc	p.P1371L	BCL9L_uc009zal.3_Missense_Mutation_p.P1366L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1371	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.P1371A(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGCCGAGAGGGAGTCTGCTC	0.627000														21			19		0	0	0.007413	0	0
PARD6G	84552	broad.mit.edu	37	18	77918291	77918292	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:77918291_77918292CC>TT	uc002lny.3	-	2	659_660	c.493_494GG>AA	c.(493-495)ggc>AAc	p.G165N	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	165	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTTCTCGCAGCCGTGCCGGTGC	0.688000														10			7		0	0	0.004672	0	0
DMBX1	127343	broad.mit.edu	37	1	46976783	46976783	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:46976783C>T	uc001cpx.3	+	2	540	c.525C>T	c.(523-525)ccC>ccT	p.P175P	DMBX1_uc001cpw.3_Silent_p.P170P	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	175					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCAGCGACCCCCCTGCTGAGC	0.677000														57			39		0	0	0.008740	0	0
COL6A5	256076	broad.mit.edu	37	3	130095608	130095608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:130095608C>T	uc010htj.1	+	2	1090	c.596C>T	c.(595-597)tCc>tTc	p.S199F	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	199	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCACATTTTCCCAAAACATG	0.483000														28			14		0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38891859	38891859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:38891859G>A	uc021yzh.1	+	72	10992	c.10883G>A	c.(10882-10884)tGg>tAg	p.W3628*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W3411*|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGATCAATGGGAAATGGAG	0.393000														99			23		0	0	0.014323	0	0
KLHL31	401265	broad.mit.edu	37	6	53519241	53519241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:53519241C>T	uc003pcb.4	-	1	971	c.830G>A	c.(829-831)aGa>aAa	p.R277K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCATCATTCTTGGTACGGA	0.408000														137			168		0	0	0.014410	0	0
GPAT2	150763	broad.mit.edu	37	2	96689735	96689735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:96689735G>A	uc002svf.3	-	16	2055	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	GPAT2_uc002sve.3_Missense_Mutation_p.S413F|GPAT2_uc002svd.3_Missense_Mutation_p.S430F|GPAT2_uc002svg.3_Missense_Mutation_p.S490F|GPAT2_uc010yuh.2_Missense_Mutation_p.S540F|GPAT2_uc002svh.3_Missense_Mutation_p.S611F	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	611					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTAGCAGTAGGAAGACTGGCA	0.617000														3			5		0	0	0.001984	0	0
CHD3	1107	broad.mit.edu	37	17	7807809	7807809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7807809C>T	uc002gjd.2	+	24	4123	c.4121C>T	c.(4120-4122)cCt>cTt	p.P1374L	CHD3_uc002gje.2_Missense_Mutation_p.P1315L|CHD3_uc002gjf.2_Missense_Mutation_p.P1315L|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1315					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AATGTGGACCCTGACTACTGG	0.507000														46			23		0	0	0.014323	0	0
OR51L1	119682	broad.mit.edu	37	11	5020409	5020409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5020409C>T	uc010qyu.2	+	0	197	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S66F(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACTTTATTTCCATCTTAGCA	0.448000														86			48		0	0	0.014410	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196961	72196961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:72196961C>T	uc001xms.3	+	17	5228	c.4867C>T	c.(4867-4869)Ccc>Tcc	p.P1623S	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P1602S|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P1602S|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P1623S|SIPA1L1_uc010ttm.2_Missense_Mutation_p.P1077S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1623					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCTTCTCTCCCCAAGTCGCT	0.542000														50			36		0	0	0.006230	0	0
ZNF439	90594	broad.mit.edu	37	19	11978880	11978880	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:11978880G>A	uc002mss.3	+	2	1124	c.996G>A	c.(994-996)ggG>ggA	p.G332G	ZNF439_uc002msr.3_Silent_p.G196G	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AGCAGTGTGGGAAAGCATTAT	0.383000														90			56		0	0	0.014410	0	0
METTL7B	196410	broad.mit.edu	37	12	56075782	56075782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:56075782G>A	uc010spr.2	+	0	453	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	82							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CTGCGGAACCGGAGCCAACTT	0.572000														27			19		0	0	0.007413	0	0
IKZF1	10320	broad.mit.edu	37	7	50450404	50450404	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:50450404C>T	uc003tow.4	+	5	744	c.589_splice	c.e5+1	p.V197_splice	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Splice_Site_p.V110_splice|IKZF1_uc022acu.1_Splice_Site_p.V110_splice|IKZF1_uc003tox.4_Splice_Site_p.V197_splice|IKZF1_uc022acv.1_Splice_Site_p.V110_splice|IKZF1_uc022acw.1_Splice_Site_p.V110_splice|IKZF1_uc022acx.1_Splice_Site_p.G197_splice|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Splice_Site_p.V110_splice|IKZF1_uc003toy.4_Splice_Site_p.V197_splice|IKZF1_uc003toz.4_Splice_Site_p.V167_splice|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	197					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGACGCACTCCGGTAGGTCCC	0.647000			"""D,T"""	BCL6	"""ALL, DLBCL"""									18			6		0	0	0.001168	0	0
TRRAP	8295	broad.mit.edu	37	7	98507808	98507808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:98507808C>T	uc003upp.3	+	14	1689	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	TRRAP_uc011kis.2_Missense_Mutation_p.P494S|TRRAP_uc003upr.3_Missense_Mutation_p.P186S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	494	Pro-rich.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTGCAGCTCCTGGCCCTGC	0.677000														62			65		0	0	0.014410	0	0
SERPINA3	12	broad.mit.edu	37	14	95080882	95080882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:95080882C>T	uc001ydp.3	+	1	263	c.104C>T	c.(103-105)aCc>aTc	p.T35I	SERPINA3_uc001ydo.4_Missense_Mutation_p.T60I|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.T35I|SERPINA3_uc001yds.3_Missense_Mutation_p.T35I	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	35					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAGAATCTGACCCAGGAGAAC	0.587000														68			37		0	0	0.005524	0	0
WISP3	8838	broad.mit.edu	37	6	112386017	112386017	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:112386017C>T	uc003pvo.3	+	2	596	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	WISP3_uc003pvm.3_Nonsense_Mutation_p.Q136*|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	136					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CCAAGTGTTTCAGCCCAACCC	0.488000														37			58		0	0	0.014410	0	0
SH3BP1	23616	broad.mit.edu	37	22	38046701	38046701	+	Missense_Mutation	SNP	C	T	T	rs146231662		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:38046701C>T	uc003ati.3	+	15	2305	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_3'UTR|SH3BP1_uc003ath.1_Missense_Mutation_p.P523S|SH3BP1_uc003atj.1_Missense_Mutation_p.P459S|SH3BP1_uc003atk.1_Missense_Mutation_p.P437S|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	523					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					agctccggccccagccTTGGC	0.647000														40			14		0	0	0.004007	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291015	141291015	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:141291015C>T	uc022cfj.1	-	0	759	c.759G>A	c.(757-759)ctG>ctA	p.L253L	MAGEC2_uc004fbu.2_Silent_p.L253L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	253	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTGCATTCAGCACTTCCC	0.512000										HNSCC(46;0.14)				139			89		0	0	0.014410	0	0
DOCK3	1795	broad.mit.edu	37	3	51398000	51398000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:51398000G>A	uc011bds.2	+	46	4966	c.4943G>A	c.(4942-4944)gGa>gAa	p.G1648E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1648						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCCCACGGGGAAATGTTCTG	0.527000														16			10		0	0	0.010729	0	0
PIGQ	9091	broad.mit.edu	37	16	628883	628883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:628883G>A	uc002cho.3	+	5	1306	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	PIGQ_uc010bqw.3_Missense_Mutation_p.D390N|PIGQ_uc002chn.3_Missense_Mutation_p.D390N|PIGQ_uc010uui.2_Missense_Mutation_p.D404N|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	390	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTCCTCTCGGACATTATCGC	0.642000														36			32		0	0	0.013726	0	0
KDM4A	9682	broad.mit.edu	37	1	44149373	44149373	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:44149373T>G	uc001cjx.3	+	11	1919	c.1753T>G	c.(1753-1755)Ttt>Gtt	p.F585V	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	585					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAATACATGTTTTCCCTAGA	0.473000														52			36		0	0	0.006230	0	0
SGK223	157285	broad.mit.edu	37	8	8185691	8185692	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:8185691_8185692CC>TT	uc003wsh.4	-	3	2600_2601	c.2600_2601GG>AA	c.(2599-2601)ggg>gAA	p.G867E		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	867							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGTGGCGGTTCCCGGGGCTCAA	0.594000														230			88		0	0	0.004672	0	0
RGS9	8787	broad.mit.edu	37	17	63193253	63193253	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:63193253C>T	uc002jfe.3	+	12	1073	c.870C>T	c.(868-870)atC>atT	p.I290I	RGS9_uc021ubw.1_Silent_p.I287I|RGS9_uc010dem.3_Silent_p.I287I|RGS9_uc002jfd.3_Silent_p.I287I|RGS9_uc002jfg.3_Silent_p.I61I	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	290					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						GGGTGGAAATCCCAACCAAGA	0.527000														18			4		0	0	0.009096	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379676	145379676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:145379676G>A	uc003lnt.3	+	2	672	c.434G>A	c.(433-435)aGg>aAg	p.R145K	SH3RF2_uc011dbl.1_Missense_Mutation_p.R145K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	145	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGACCTAAGGTTTAATAAG	0.493000														49			22		0	0	0.010504	0	0
NLRP5	126206	broad.mit.edu	37	19	56539478	56539478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:56539478C>T	uc002qmj.3	+	6	1879	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y	NLRP5_uc002qmi.3_Missense_Mutation_p.H608Y	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	627						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)		GGCAGGCTTCCATATCCACTC	0.552000														48			34		0	0	0.004878	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83273	83273	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrGL000219.1:83273G>A	uc022brb.1	-	3	394	c.81C>T	c.(79-81)tgC>tgT	p.C27C	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		CTGCTTCATTGCATCTAATAA	0.373000														37			4		0	0	0.006214	0	0
FGG	2266	broad.mit.edu	37	4	155533572	155533572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:155533572C>T	uc003ioj.3	-	1	235	c.94G>A	c.(94-96)Gac>Aac	p.D32N	FGG_uc003iog.3_Missense_Mutation_p.D32N	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	32					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGCAGTTGTCTCTGGTAGCA	0.343000														124			62		0	0	0.014410	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240234	134240234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:134240234G>A	uc001qhp.3	+	11	1344	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	386					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GATGCCGTATGAGCCCTTAAC	0.597000														102			57		0	0	0.014410	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965962	88965963	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:88965962_88965963CT>TA	uc011khi.2	+	3	4204_4205	c.3666_3667CT>TA	c.(3664-3669)tcctta>tcTAta	p.L1223I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1223						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTGCTTCCTTAAGTTCTCA	0.465000										HNSCC(36;0.09)				173			48		0	0	0.004672	0	0
NUP88	4927	broad.mit.edu	37	17	5308443	5308443	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:5308443G>A	uc010vsx.2	-	5	1067	c.978C>T	c.(976-978)atC>atT	p.I326I	NUP88_uc002gbo.2_Silent_p.I326I|NUP88_uc010cle.2_Silent_p.I325I|NUP88_uc010vsy.2_Silent_p.I326I	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	326					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ATTCAGTAGCGATCACTAAGA	0.483000														27			16		0	0	0.004007	0	0
TGFBR2	7048	broad.mit.edu	37	3	30733068	30733069	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:30733068_30733069GG>AA	uc003ceo.3	+	6	2063_2064	c.1681_1682GG>AA	c.(1681-1683)ggc>AAc	p.G561N	TGFBR2_uc003cen.3_Missense_Mutation_p.G586N	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	561					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCCTGAAGACGGCTCCCTAAAC	0.594000														52			26		0	0	0.004672	0	0
ZNF341	84905	broad.mit.edu	37	20	32379014	32379014	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:32379014C>T	uc002wzy.3	+	14	2276	c.2256C>T	c.(2254-2256)gcC>gcT	p.A752A	ZNF341_uc002wzx.3_Silent_p.A745A|ZNF341_uc010geq.3_Silent_p.A662A|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Silent_p.A179A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGAGGGCAGCCCCCCGCAGTT	0.677000														30			18		0	0	0.008871	0	0
PLCE1	51196	broad.mit.edu	37	10	95791355	95791355	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:95791355G>A	uc001kjk.3	+	1	1186	c.552G>A	c.(550-552)agG>agA	p.R184R	PLCE1_uc010qnx.2_Silent_p.R184R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	184					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGCAGAAGGGCAGTATTTC	0.403000														30			29		0	0	0.009535	0	0
HOXD3	3232	broad.mit.edu	37	2	177034231	177034231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:177034231C>T	uc002ukt.1	+	1	565	c.389C>T	c.(388-390)tCa>tTa	p.S130L		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	130					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		cccccatcttcacccACCAAT	0.627000														20			12		0	0	0.001855	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566105	19566105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:19566105G>A	uc002wrl.3	+	5	726	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	177						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.G176C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACCAAAGGCGATGTGGGAGT	0.552000														127			69		0	0	0.014410	0	0
FAM47B	170062	broad.mit.edu	37	X	34962619	34962619	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:34962619G>A	uc004ddi.2	+	0	1707	c.1671G>A	c.(1669-1671)ttG>ttA	p.L557L		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	557										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCCTAAGTTGGGGAAAAAGC	0.493000														82			55		0	0	0.014410	0	0
MLL	4297	broad.mit.edu	37	11	118375417	118375417	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118375417T>A	uc001pta.3	+	26	8824	c.8801T>A	c.(8800-8802)tTg>tAg	p.L2934*	MLL_uc001ptb.3_Nonsense_Mutation_p.L2937*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2934					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTGTCTGTCTTGACCACCCGG	0.488000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									87			38		0	0	0.006999	0	0
FMNL3	91010	broad.mit.edu	37	12	50044968	50044968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:50044968C>T	uc001ruv.1	-	15	2014	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	FMNL3_uc001ruw.1_Missense_Mutation_p.D543N|FMNL3_uc001rut.1_Missense_Mutation_p.D160N|FMNL3_uc001ruu.1_Missense_Mutation_p.D444N	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	594	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATCTTCTCATCATCAAGTTCG	0.498000														56			39		0	0	0.010771	0	0
ATP1A2	477	broad.mit.edu	37	1	160106050	160106050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160106050C>T	uc001fvc.3	+	17	2585	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	ATP1A2_uc001fvb.2_Missense_Mutation_p.S818F|ATP1A2_uc001fvd.3_Missense_Mutation_p.S554F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	818					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGCCATCTCCTTGGCCTAT	0.547000														65			27		0	0	0.005443	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514302	58514303	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:58514302_58514303GG>AA	uc002ybb.3	-	0	1050_1051	c.684_685CC>TT	c.(682-687)ggcccc>ggTTcc	p.P229S	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	229	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GTGCCCTCGGGGCCTGCGGGCC	0.683000														38			20		0	0	0.004672	0	0
AGBL1	123624	broad.mit.edu	37	15	86807793	86807793	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:86807793A>G	uc002blz.1	+	9	1333	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	AGBL1_uc002bma.1_Missense_Mutation_p.K149R|AGBL1_uc002bmb.1_Missense_Mutation_p.K112R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	418					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCTTCCCCGAAAGCAGATGCC	0.423000														77			72		0	0	0.014410	0	0
CLIC4	25932	broad.mit.edu	37	1	25124273	25124273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:25124273C>T	uc001bjo.2	+	1	398	c.113C>T	c.(112-114)tCc>tTc	p.S38F	CLIC4_uc001bjp.1_Intron	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	38	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TGCCCCTTTTCCCAGAGGCTC	0.408000														52			26		0	0	0.010818	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756440	49756440	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49756440G>A	uc003cxj.3	-	0	799	c.459C>T	c.(457-459)ttC>ttT	p.F153F	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	153					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGCCGTGGAAGGCATGCT	0.647000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			65		0	0	0.014410	0	0
ZFX	7543	broad.mit.edu	37	X	24227093	24227093	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:24227093C>T	uc011mjv.2	+	8	1536	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	ZFX_uc004dbd.2_Silent_p.L390L|ZFX_uc004dbf.3_Silent_p.L390L|ZFX_uc004dbe.3_Silent_p.L390L|ZFX_uc022bua.1_Silent_p.L390L|ZFX_uc010nfx.2_Silent_p.L161L|ZFX_uc010nfy.1_Silent_p.L241L|ZFX_uc010nfz.3_Intron	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTGCTGGCCTCGGCAGACTGG	0.468000														53			30		0	0	0.008361	0	0
IGLL1	3543	broad.mit.edu	37	22	23915530	23915531	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:23915530_23915531GG>AA	uc002zxd.3	-	2	682_683	c.564_565CC>TT	c.(562-567)tcccgc>tcTTgc	p.R189C	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	189	C region (By similarity to lambda light- chain).|Ig-like C1-type.		R -> H (in dbSNP:rs8138122).		immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TAGCTTCTGCGGGACCTCCACT	0.629000														60			37		0	0	0.004672	0	0
FHDC1	85462	broad.mit.edu	37	4	153864378	153864378	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:153864378T>G	uc003inf.2	+	0	244	c.169T>G	c.(169-171)Tcc>Gcc	p.S57A		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	57					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GTGTCCTTCCTCCCCTCCTCC	0.607000														14			6		0	0	0.003080	0	0
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:25043947C>T	uc001wpq.3	-	2	310	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532000														64			36		0	0	0.004289	0	0
SOX9	6662	broad.mit.edu	37	17	70119026	70119026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:70119026C>T	uc002jiw.3	+	1	970	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	200					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCACATCTCCCCCAACGCCAT	0.672000														82			23		0	0	0.004656	0	0
FAM86HP	729375	broad.mit.edu	37	3	129818045	129818045	+	RNA	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:129818045T>C	uc003ene.2	-	2		c.466A>G			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		CATATAAAAATTCTTCCCACG	0.408000														33			20		0	0	0.008871	0	0
PTK2B	2185	broad.mit.edu	37	8	27308398	27308398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:27308398G>A	uc003xfn.2	+	29	3281	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	PTK2B_uc022ate.1_Missense_Mutation_p.E825K|PTK2B_uc003xfp.2_Missense_Mutation_p.E825K|PTK2B_uc003xfq.2_Missense_Mutation_p.E783K|PTK2B_uc003xfs.1_Missense_Mutation_p.E22K	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	825	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GCTCAGGCAGGAGGAGAAGTC	0.607000														16			9		0	0	0.006214	0	0
ASXL3	80816	broad.mit.edu	37	18	31319124	31319124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:31319124G>A	uc010dmg.1	+	10	1811	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	ASXL3_uc002kxq.2_Missense_Mutation_p.E293K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S586S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTTCCAAATGAAGGAATTGC	0.438000														21			13		0	0	0.013537	0	0
B4GALT3	8703	broad.mit.edu	37	1	161145604	161145604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:161145604G>A	uc001fys.2	-	2	903	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Missense_Mutation_p.L83F|B4GALT3_uc001fyq.2_Missense_Mutation_p.L83F|B4GALT3_uc001fyp.1_5'Flank|B4GALT3_uc009wud.2_Missense_Mutation_p.L83F	NM_001199874	NP_001186803	O60512	B4GT3_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA.	83					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TTACCTAAGAGAGGAGATCGT	0.582000														137			86		0	0	0.014410	0	0
CKMT2	1160	broad.mit.edu	37	5	80550306	80550306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:80550306C>T	uc003khc.4	+	4	685	c.443C>T	c.(442-444)tCa>tTa	p.S148L	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.S148L|CKMT2_uc003khd.4_Missense_Mutation_p.S148L|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	148					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGATGCATCAAAGGTAGGC	0.572000														45			23		0	0	0.003330	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395083	37395083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:37395083C>T	uc002rpu.3	-	6	814	c.793G>A	c.(793-795)Ggt>Agt	p.G265S	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	303						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGAATCAACCCTGGCAATAT	0.323000														85			42		0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10933861	10933861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:10933861C>T	uc002yip.1	-	16	1386	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G322R|TPTE_uc002yir.1_Missense_Mutation_p.G302R|TPTE_uc010gkv.1_Missense_Mutation_p.G202R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	340	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTGCCTCCTTTACAGTGA	0.328000														339			50		0	0	0.014410	0	0
ADCY8	114	broad.mit.edu	37	8	131848648	131848648	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:131848648G>A	uc003ytd.4	-	11	2806	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	ADCY8_uc010mds.3_Silent_p.F719F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	850					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCAGCCGGAGGAAAACTGCAC	0.547000										HNSCC(32;0.087)				38			17		0	0	0.006122	0	0
NME8	51314	broad.mit.edu	37	7	37890311	37890311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:37890311G>A	uc003tfn.3	+	4	544	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	58	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.E58K(1)									TGAACTGAACGAAGACGAAAT	0.318000														95			26		0	0	0.006320	0	0
TMEM72	643236	broad.mit.edu	37	10	45430427	45430427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:45430427G>A	uc001jbn.2	+	4	870	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E107K	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	225						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGTGCACTTTGAAGACAACTT	0.607000														39			49		0	0	0.014410	0	0
CLCNKA	1187	broad.mit.edu	37	1	16378204	16378204	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:16378204G>A	uc001axx.4	+	14	1434	c.1298_splice	c.e14-1	p.G433_splice	CLCNKA_uc021ogl.1_Splice_Site_p.G80_splice|CLCNKA_uc021ogm.1_Splice_Site_p.G264_splice|CLCNKA_uc001axy.4_Splice_Site_p.G264_splice	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	433					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCTGTGGCCAGGAGCTGCTAT	0.622000														29			40		0	0	0.011902	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377316	86377316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:86377316G>A	uc010sum.2	-	4	511	c.352C>T	c.(352-354)Cct>Tct	p.P118S	MGAT4C_uc001tal.4_Missense_Mutation_p.P94S|MGAT4C_uc001taj.4_Missense_Mutation_p.P94S|MGAT4C_uc001tak.4_Missense_Mutation_p.P94S|MGAT4C_uc001tai.4_Missense_Mutation_p.P94S|MGAT4C_uc001tah.4_Missense_Mutation_p.P94S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	94					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTTGTAAAGGTGTGGCAGCT	0.313000														98			47		0	0	0.014410	0	0
HTRA3	94031	broad.mit.edu	37	4	8293173	8293174	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:8293173_8293174CC>TT	uc003gla.3	+	3	992_993	c.785_786CC>TT	c.(784-786)ccc>cTT	p.P262L	HTRA3_uc003gkz.3_Missense_Mutation_p.P262L	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	262	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ATCGGCAGTCCCTTCGCCCTAC	0.614000														37			26		0	0	0.004672	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578887	149578887	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149578887C>T	uc003lrr.3	+	4	1052	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	227						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCTGGGTCATCGTGTTCCTCT	0.642000														52			24		0	0	0.006320	0	0
PRX	57716	broad.mit.edu	37	19	40900066	40900066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:40900066G>A	uc002onr.3	-	6	4462	c.4193C>T	c.(4192-4194)gCc>gTc	p.A1398V	PRX_uc002onq.3_Missense_Mutation_p.A1259V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1398					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACTTGGGGGCTGCATCGCC	0.697000														60			37		0	0	0.008740	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644107	4644107	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:4644107C>T	uc002fyu.2	+	0	294	c.264C>T	c.(262-264)ctC>ctT	p.L88L	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Silent_p.L88L|ZMYND15_uc002fyt.2_Silent_p.L88L	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	88							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGCCTGGCTCCTGGGAGACA	0.627000														22			13		0	0	0.001855	0	0
ITGA11	22801	broad.mit.edu	37	15	68695276	68695276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:68695276C>T	uc010bib.3	-	1	232	c.145G>A	c.(145-147)Gac>Aac	p.D49N	ITGA11_uc002ari.3_Missense_Mutation_p.D49N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	49					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCACTGATGTCGTGCTGCTGC	0.627000														12			6		0	0	0.001984	0	0
STEAP1	26872	broad.mit.edu	37	7	89793801	89793801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:89793801G>A	uc003ujx.3	+	4	973	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	258	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AGCAAGCTAGGAATTGTTTCC	0.368000														88			121		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778645	140778645	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140778645G>A	uc003lkf.2	+	0	951	c.951G>A	c.(949-951)ggG>ggA	p.G317G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.G317G	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	322	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGAAGGGAGGGATGGTG	0.383000														114			76		0	0	0.014410	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492547	198492547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:198492547G>A	uc009wzd.3	-	3	384	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	ATP6V1G3_uc001gup.3_Missense_Mutation_p.H111Y|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	111					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TAGTTCACATGGATTTCTGGT	0.388000														17			4		0	0	0.009096	0	0
COL9A3	1299	broad.mit.edu	37	20	61453960	61453961	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:61453960_61453961CC>TT	uc002ydm.3	+	9	498_499	c.495_496CC>TT	c.(493-498)ctccct>ctTTct	p.P166S		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	166	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGAGTCCTCCCTGAAGGCGC	0.614000														55			26		0	0	0.004672	0	0
FGF11	2256	broad.mit.edu	37	17	7345942	7345943	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7345942_7345943GG>AA	uc002ggz.3	+	3	689_690	c.438_439GG>AA	c.(436-441)aaggag>aaAAag	p.E147K	SPEM1_uc010vtw.1_3'UTR|FGF11_uc010cmi.3_Missense_Mutation_p.E23K|FGF11_uc010vtx.2_Missense_Mutation_p.E88K|CHRNB1_uc002ghb.3_5'Flank|CHRNB1_uc010vty.2_5'Flank	NM_004112	NP_004103	Q92914	FGF11_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	147					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				GTCGCTTTAAGGAGTGTGTCTT	0.540000														149			71		0	0	0.004672	0	0
ACAN	176	broad.mit.edu	37	15	89401900	89401900	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:89401900C>T	uc010upo.1	+	11	6458	c.6084C>T	c.(6082-6084)gcC>gcT	p.A2028A	ACAN_uc010upp.1_Silent_p.A2028A|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2028					cell adhesion		hyaluronic acid binding|sugar binding	p.L2027L(1)		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)			GTGGAGAGGCCTCAGGACTTC	0.507000														40			18		0	0	0.004990	0	0
HUWE1	10075	broad.mit.edu	37	X	53576162	53576162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:53576162C>T	uc004dsp.3	-	66	10195	c.9793G>A	c.(9793-9795)Gag>Aag	p.E3265K	HUWE1_uc004dsn.3_Missense_Mutation_p.E2073K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3265					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						GGACGGTTCTCATGGCTACTT	0.527000														128			64		0	0	0.014410	0	0
OR13G1	441933	broad.mit.edu	37	1	247836067	247836067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:247836067C>T	uc001idi.1	-	0	277	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G93S(2)		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)			GACATGCAGCCTGCATATGAA	0.493000														20			15		0	0	0.002450	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811379	44811380	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:44811379_44811380CC>TT	uc001ztr.3	+	10	1541_1542	c.1125_1126CC>TT	c.(1123-1128)ttccgt>ttTTgt	p.R376C	CTDSPL2_uc001zts.3_Missense_Mutation_p.R376C|CTDSPL2_uc001ztt.3_Missense_Mutation_p.R376C|CTDSPL2_uc010bdv.3_Missense_Mutation_p.R304C	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	376	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACCGGCTTTTCCGTGAACATTG	0.277000														25			17		0	0	0.004672	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834608	120834608	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:120834608C>T	uc002tmg.3	+	7	758	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EPB41L5_uc010flk.3_Silent_p.F189F|EPB41L5_uc010fll.3_Silent_p.F189F|EPB41L5_uc002tmh.4_Silent_p.F189F|EPB41L5_uc010flm.3_5'UTR	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	189	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGTTCAGATTCGTGCCTATTC	0.378000														50			51		0	0	0.014410	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103527856	103527856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:103527856C>T	uc001vpu.2	+	22	4648	c.4526C>T	c.(4525-4527)aCc>aTc	p.T1509I	BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.T1055I	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1480					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										AAAGGAAAAACCCAGAAGAGA	0.398000														108			80		0	0	0.014410	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760986	186760987	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:186760986_186760987GG>AA	uc003frb.3	+	3	1128_1129	c.495_496GG>AA	c.(493-498)tgggag>tgAAag	p.165_166WE>*K	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Nonsense_Mutation_p.165_166WE>*K	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	165					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCTCTGAATGGGAGGGTTATCT	0.554000														76			32		0	0	0.004672	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582157	172582157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:172582157C>T	uc002uha.1	+	7	706	c.541C>T	c.(541-543)Cct>Tct	p.P181S	DYNC1I2_uc002uhb.1_Missense_Mutation_p.P155S|DYNC1I2_uc010zds.1_Missense_Mutation_p.P173S|DYNC1I2_uc002uhc.3_Missense_Mutation_p.P155S|DYNC1I2_uc002uhd.1_Missense_Mutation_p.P175S|DYNC1I2_uc002uhe.1_Missense_Mutation_p.P181S|DYNC1I2_uc002uhf.1_Missense_Mutation_p.P155S|DYNC1I2_uc010zdt.1_Missense_Mutation_p.P173S|DYNC1I2_uc002uhg.1_Missense_Mutation_p.P96S|DYNC1I2_uc010zdu.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	181					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGTAGTGGCTCCTAAACCACC	0.249000														7			11		0	0	0.013537	0	0
ASZ1	136991	broad.mit.edu	37	7	117025764	117025764	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:117025764C>T	uc003vjb.2	-	4	603	c.540G>A	c.(538-540)gaG>gaA	p.E180E	ASZ1_uc011kno.1_Silent_p.E180E|ASZ1_uc011knp.1_Intron	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	180					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGTAACCATTCTCATCCTGGG	0.358000														71			23		0	0	0.003954	0	0
THOC2	57187	broad.mit.edu	37	X	122747528	122747528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:122747528G>A	uc004etu.3	-	34	4513	c.4481C>T	c.(4480-4482)cCg>cTg	p.P1494L	THOC2_uc004etv.4_5'Flank|THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.P315L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1494	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGTTAAGTCCGGTGGCACTTC	0.373000														189			91		0	0	0.014410	0	0
KCTD11	147040	broad.mit.edu	37	17	7256760	7256760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7256760C>T	uc002gge.4	+	0	1553	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	167					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L166L(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGTGGAACTCCCCGAGGTGGA	0.672000														32			20		0	0	0.012319	0	0
C1QL1	10882	broad.mit.edu	37	17	43045296	43045296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:43045296C>T	uc002ihv.3	-	0	349	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_006688	NP_006679	O75973	C1QRF_HUMAN	Homo sapiens complement component 1, q subcomponent-like 1 (C1QL1), mRNA.	41					locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				gcgccggcgccggggccccgc	0.781000														9			4		0	0	0.000602	0	0
ZNF718	255403	broad.mit.edu	37	4	155870	155870	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:155870C>T	uc003fzt.4	+	3	1551	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript|ZNF718_uc003fzw.4_3'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGTACTCCAACCTTCCTCAAC	0.348000														14			8		0	0	0.003080	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971299	45971299	+	Missense_Mutation	SNP	T	C	C	rs233240	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:45971299T>C	uc002zfi.1	-	0	90	c.43A>G	c.(43-45)Aac>Gac	p.N15D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	15			N -> D (in dbSNP:rs233240).			keratin filament		p.N15D(2)		large_intestine(1)|lung(4)|skin(1)	6						TGCCAGGAGTTGGTGCAGGCG	0.667000														119			4		0	0	0.009096	0	0
CD47	961	broad.mit.edu	37	3	107798844	107798844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:107798844G>A	uc003dwt.1	-	1	574	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	CD47_uc003dwv.1_Missense_Mutation_p.R132C	NM_001777	NP_001768	Q08722	CD47_HUMAN	Homo sapiens CD47 molecule (CD47), transcript variant 1, mRNA.	132					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TTACCAACACGATATTTTAGC	0.413000														80			39		0	0	0.004878	0	0
SLC35A4	113829	broad.mit.edu	37	5	139946858	139946858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139946858C>T	uc003lgg.1	+	2	832	c.104C>T	c.(103-105)cCa>cTa	p.P35L	APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc021yeg.1_5'Flank|APBB3_uc021yeh.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.P35L|SLC35A4_uc021yei.1_Missense_Mutation_p.P35L	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	35	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCATGCCCCATTGCTGGCA	0.637000														74			31		0	0	0.007291	0	0
PPYR1	5540	broad.mit.edu	37	10	47087903	47087904	+	Missense_Mutation	DNP	CC	TT	TT	rs143707760		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:47087903_47087904CC>TT	uc001jee.3	+	2	1539_1540	c.1120_1121CC>TT	c.(1120-1122)ccc>TTc	p.P374F	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.P374F|PPYR1_uc021ppu.1_Missense_Mutation_p.P374F	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	374					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.P374L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGGTCCAATCCCATTTAACCA	0.589000														41			19		0	0	0.004672	0	0
HRNR	388697	broad.mit.edu	37	1	152187670	152187671	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:152187670_152187671CC>TT	uc001ezt.1	-	2	6510_6511	c.6434_6435GG>AA	c.(6433-6435)agg>aAA	p.R2145K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2145					keratinization		calcium ion binding|protein binding	p.S2144S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGTTCACCCCTAGATGACTG	0.579000														744			18		0	0	0.004672	0	0
LRRC15	131578	broad.mit.edu	37	3	194081252	194081252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:194081252C>T	uc003ftt.3	-	2	664	c.539G>A	c.(538-540)gGa>gAa	p.G180E	LRRC15_uc003ftu.3_Missense_Mutation_p.G174E|LRRC15_uc021xiy.1_Missense_Mutation_p.G174E	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	174						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		CTTCGTGAGTCCTACCAGGTG	0.592000														155			76		0	0	0.014410	0	0
CARS	833	broad.mit.edu	37	11	3059395	3059395	+	Missense_Mutation	SNP	G	A	A	rs146537533		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:3059395G>A	uc001lxf.3	-	6	770	c.686C>T	c.(685-687)cCc>cTc	p.P229L	CARS_uc010qxo.2_Missense_Mutation_p.P229L|CARS_uc001lxe.3_Missense_Mutation_p.P136L|CARS_uc001lxg.3_Missense_Mutation_p.P146L|CARS_uc001lxh.3_Missense_Mutation_p.P146L|CARS_uc010qxp.2_Missense_Mutation_p.P159L|AX747870_uc001lxi.1_Intron	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	146					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTTTATCGGGATCCGTGGT	0.453000			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			27		0	0	0.004656	0	0
DLG3	1741	broad.mit.edu	37	X	69665393	69665393	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:69665393G>A	uc004dyi.2	+	0	689	c.342G>A	c.(340-342)cgG>cgA	p.R114R		NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	114					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)					GTACCAACCGGGACTGGTATG	0.672000														6			6		0	0	0.003080	0	0
SGCZ	137868	broad.mit.edu	37	8	14095106	14095106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:14095106G>A	uc003wwq.3	-	3	1079	c.419C>T	c.(418-420)aCc>aTc	p.T140I	SGCZ_uc010lss.3_Missense_Mutation_p.T93I	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	127					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCACCTATGGTCAGCTGTCC	0.418000														297			200		0	0	0.014410	0	0
SRRM2	23524	broad.mit.edu	37	16	2818193	2818193	+	Missense_Mutation	SNP	C	T	T	rs141595233		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:2818193C>T	uc002crk.3	+	10	8213	c.7664C>T	c.(7663-7665)tCc>tTc	p.S2555F	SRRM2_uc002crj.1_Missense_Mutation_p.S2459F|SRRM2_uc002crl.1_Missense_Mutation_p.S2555F|SRRM2_uc010bsu.1_Missense_Mutation_p.S2459F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2555	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcctcctcTGGCTCC	0.577000														20			13		0	0	0.013537	0	0
FBXO33	254170	broad.mit.edu	37	14	39870725	39870725	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:39870725G>A	uc001wvk.3	-	2	1389	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	351										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATGTTGTCCAGAGACTTGTGC	0.428000														65			44		0	0	0.014410	0	0
USP9X	8239	broad.mit.edu	37	X	41007791	41007791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:41007791G>A	uc004dfb.3	+	11	2222	c.1589G>A	c.(1588-1590)aGt>aAt	p.S530N	USP9X_uc004dfc.3_Missense_Mutation_p.S530N	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	530					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGGCTCTCAGTGCCCACATA	0.438000														69			44		0	0	0.013114	0	0
TMEM164	84187	broad.mit.edu	37	X	109414665	109414666	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:109414665_109414666CC>TT	uc004eom.3	+	5	943_944	c.604_605CC>TT	c.(604-606)ccc>TTc	p.P202F	TMEM164_uc004eon.2_Missense_Mutation_p.P53F|TMEM164_uc010npq.3_Missense_Mutation_p.P163F	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	202						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CACTCCAGAGCCCCTCAGCAGT	0.525000														306			163		0	0	0.004672	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390873	8390873	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:8390873G>A	uc001apb.3	+	3	1320	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	SLC45A1_uc001apc.3_Silent_p.L138L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	440					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCTCCTTGGACACCTCTA	0.642000														22			23		0	0	0.003330	0	0
SBF2	81846	broad.mit.edu	37	11	9879814	9879814	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:9879814A>C	uc001mib.2	-	17	2197	c.2059T>G	c.(2059-2061)Tca>Gca	p.S687A	SBF2_uc001mif.3_Missense_Mutation_p.S443A|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	687					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCCTTGGCTGAGAGATAAAGG	0.438000														101			62		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196791160	196791160	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:196791160A>G	uc002utj.4	-	21	3703	c.3602T>C	c.(3601-3603)aTg>aCg	p.M1201T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1201	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P1200S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTATCCCCATTGGAATAGC	0.323000														8			30		0	0	0.013726	0	0
DNAH10	196385	broad.mit.edu	37	12	124285839	124285839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:124285839G>A	uc001uft.4	+	14	2145	c.2120G>A	c.(2119-2121)gGg>gAg	p.G707E	DNAH10_uc010tav.1_Missense_Mutation_p.G249E|DNAH10_uc010taw.1_Missense_Mutation_p.G192E	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	707	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACACAGCTGGGATACAGCGC	0.463000														182			79		0	0	0.014410	0	0
NFIA	4774	broad.mit.edu	37	1	61554268	61554268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:61554268C>T	uc010oos.2	+	2	692	c.610C>T	c.(610-612)Cca>Tca	p.P204S	NFIA_uc001czy.3_Missense_Mutation_p.P151S|NFIA_uc001czw.3_Missense_Mutation_p.P159S|NFIA_uc001czv.3_Missense_Mutation_p.P159S	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	159					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ATGCTCTAATCCAGGGCTCTG	0.463000														89			46		0	0	0.014410	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450559	44450559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:44450559G>A	uc010okl.2	+	3	735	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	B4GALT2_uc001clg.3_Missense_Mutation_p.R191Q|B4GALT2_uc001clh.3_Missense_Mutation_p.R125Q|B4GALT2_uc001cli.3_Missense_Mutation_p.R191Q	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	191					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACCTTCAACCGGGCCAAGCTG	0.592000														40			19		0	0	0.012319	0	0
CAST	831	broad.mit.edu	37	5	96073640	96073640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:96073640C>T	uc011cuo.1	+	9	760	c.676C>T	c.(676-678)Cca>Tca	p.P226S	CAST_uc003klt.3_Missense_Mutation_p.P180S|CAST_uc021ybr.1_Missense_Mutation_p.P241S|CAST_uc003klx.3_Missense_Mutation_p.P222S|CAST_uc003klz.1_Missense_Mutation_p.P180S|CAST_uc011cup.2_Missense_Mutation_p.P131S|CAST_uc011cuq.2_Missense_Mutation_p.P28S|CAST_uc021ybs.1_Missense_Mutation_p.P180S|CAST_uc021ybt.1_Missense_Mutation_p.P158S|CAST_uc011cut.2_Missense_Mutation_p.P108S|CAST_uc011cur.2_Missense_Mutation_p.P166S|CAST_uc011cus.2_Missense_Mutation_p.P180S|CAST_uc003kma.2_Missense_Mutation_p.P139S|CAST_uc003kmd.3_Missense_Mutation_p.P158S	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	180							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GTATACTGGACCAGAAGTTTC	0.383000														66			45		0	0	0.013114	0	0
PLCD4	84812	broad.mit.edu	37	2	219492943	219492943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:219492943G>A	uc021vwx.1	+	6	1303	c.964G>A	c.(964-966)Gga>Aga	p.G322R	PLCD4_uc002vik.1_Missense_Mutation_p.G169R|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGCGTCGAGGGATATATACG	0.512000														35			56		0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55582773	55582773	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:55582773C>T	uc010qhy.1	-	34	5129	c.4734G>A	c.(4732-4734)caG>caA	p.Q1578Q	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.Q1573Q|PCDH15_uc021pqz.1_Silent_p.Q1548Q|PCDH15_uc010qhv.1_Silent_p.Q1568Q|PCDH15_uc010qhw.1_Silent_p.Q1531Q|PCDH15_uc010qhx.1_Silent_p.Q1502Q|PCDH15_uc010qhz.1_Silent_p.Q1573Q|PCDH15_uc010qia.1_Silent_p.Q1551Q|PCDH15_uc001jju.1_Silent_p.Q1571Q|PCDH15_uc010qib.1_Silent_p.Q1548Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1571					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCACAGCCTCTGAATCTTTT	0.468000										HNSCC(58;0.16)				25			52		0	0	0.014410	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102895234	102895234	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:102895234G>A	uc003vbh.4	-	8	2419	c.228C>T	c.(226-228)taC>taT	p.Y76Y	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		CTTACCTTAGGTATGTTCCAT	0.318000														51			6		0	0	0.001168	0	0
SEC23B	10483	broad.mit.edu	37	20	18505091	18505092	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:18505091_18505092CC>TT	uc002wra.2	+	4	842_843	c.381_382CC>TT	c.(379-384)tcccct>tcTTct	p.P128S	SEC23B_uc010zsb.2_Intron|SEC23B_uc002wrb.2_Missense_Mutation_p.P128S|SEC23B_uc002wqz.2_Missense_Mutation_p.P128S|SEC23B_uc002wrc.2_Missense_Mutation_p.P128S	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	128					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GTGCTCAGTCCCCTCTGATCTT	0.426000														90			44		0	0	0.004672	0	0
PIGR	5284	broad.mit.edu	37	1	207110999	207110999	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:207110999C>T	uc001hez.3	-	3	670	c.486G>A	c.(484-486)agG>agA	p.R162R	PIGR_uc009xbz.3_Silent_p.R162R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	162	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding	p.K161R(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAAGGACTTCCTCTTTTGAG	0.478000														19			10		0	0	0.008291	0	0
OR1C1	26188	broad.mit.edu	37	1	247921544	247921544	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:247921544G>A	uc010pza.2	-	0	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGGGGAATGGAGGTGAGAGT	0.473000														19			15		0	0	0.003163	0	0
OR51F1	256892	broad.mit.edu	37	11	4791007	4791007	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:4791007G>A	uc010qyl.2	-	0	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	47						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGACAAACAGGATCACGCTGT	0.473000														31			23		0	0	0.014323	0	0
AK302694	0	broad.mit.edu	37	10	30992578	30992578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:30992578G>A	uc010qdx.1	+	5	1020	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GAACCCCGGGGAACTTGCCCA	0.438000														132			81		0	0	0.014410	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73156631	73156631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:73156631G>A	uc003hgk.2	-	19	2909	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	958	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R958P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGGGCCGGCGGCTCTCGGGA	0.567000														45			23		0	0	0.002780	0	0
DDX3X	1654	broad.mit.edu	37	X	41205589	41205589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:41205589C>T	uc004dfe.3	+	12	2278	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.R475C|DDX3X_uc011mkq.2_Missense_Mutation_p.R459C|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	475	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.R475C(4)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCATGGAGACCGTTCTCAGAG	0.438000										HNSCC(61;0.18)				70			31		0	0	0.009535	0	0
APBA1	320	broad.mit.edu	37	9	72064563	72064563	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:72064563G>A	uc004ahh.2	-	9	2394	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	706	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TAATGGACATGATCTGGTCAC	0.512000														48			55		0	0	0.014410	0	0
TCEAL1	9338	broad.mit.edu	37	X	102884995	102884995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102884995G>A	uc022cbv.1	+	0	151	c.151G>A	c.(151-153)Gag>Aag	p.E51K	TCEAL1_uc004eks.3_Missense_Mutation_p.E51K|TCEAL1_uc004ekt.3_Missense_Mutation_p.E51K|TCEAL1_uc004eku.3_Missense_Mutation_p.E51K	NM_004780	NP_004771	Q15170	TCAL1_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 1 (TCEAL1), transcript variant 1, mRNA.	54	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTTCTTTCCTGAGGAGCTCTT	0.637000														20			16		0	0	0.004990	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184988	167184988	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:167184988G>A	uc003fes.1	-	2	434	c.363C>T	c.(361-363)ctC>ctT	p.L121L	SERPINI2_uc003fer.1_Silent_p.L111L|SERPINI2_uc003fet.1_Silent_p.L111L	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	111					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTGAAGGTAGAGGGCATTGG	0.348000														46			32		0	0	0.009535	0	0
ASAP2	8853	broad.mit.edu	37	2	9541480	9541481	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:9541480_9541481GG>AA	uc002qzh.2	+	26	3241_3242	c.2901_2902GG>AA	c.(2899-2904)gagggg>gaAAgg	p.G968R	ASAP2_uc002qzi.2_Missense_Mutation_p.G923R	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	968	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCTTCTCCGAGGGGGATGTGAT	0.614000														40			25		0	0	0.004672	0	0
ODZ4	26011	broad.mit.edu	37	11	78497944	78497944	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:78497944G>A	uc001ozl.4	-	16	2828	c.2365_splice	c.e16+1	p.A789_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	789	EGF-like 8.				signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCGCCATACCGATGGTGCAGT	0.667000														7			3		0	0	0.009096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617404	77617404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:77617404C>T	uc003yau.2	+	1	1468	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	ZFHX4_uc003yat.1_Missense_Mutation_p.R361C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R361C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAACCTTCCGCGGTTTATG	0.458000										HNSCC(33;0.089)				62			44		0	0	0.013114	0	0
SKA3	221150	broad.mit.edu	37	13	21746782	21746782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:21746782G>A	uc001unt.3	-	1	267	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	SKA3_uc001unu.3_Missense_Mutation_p.H48Y|SKA3_uc001unv.3_Intron	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	48					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTTCTGAATGAAGGTCATAT	0.284000														18			17		0	0	0.006122	0	0
HOOK2	29911	broad.mit.edu	37	19	12874530	12874530	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:12874530G>A	uc002muy.2	-	20	2061	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	HOOK2_uc002muz.2_Silent_p.S628S	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding	p.S630A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTGTCCTCAGGGAATGGAGTT	0.602000														49			28		0	0	0.007291	0	0
LMNB2	84823	broad.mit.edu	37	19	2434473	2434473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:2434473G>A	uc002lvy.3	-	6	1049	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	321	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CCCGGCCATGGCCTCCTCCAG	0.662000														43			31		0	0	0.013726	0	0
KCNU1	157855	broad.mit.edu	37	8	36642033	36642033	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:36642033C>T	uc010lvw.3	+	0	192	c.105C>T	c.(103-105)ttC>ttT	p.F35F	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	35						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGTGACCTTCTTCAGTGGAC	0.418000														38			25		0	0	0.003954	0	0
MEST	4232	broad.mit.edu	37	7	130135275	130135275	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:130135275C>T	uc003vqg.3	+	1	349	c.93C>T	c.(91-93)atC>atT	p.I31I	MEST_uc003vqc.3_Silent_p.I22I|MEST_uc003vqd.3_Silent_p.I22I|MEST_uc022alp.1_Silent_p.I22I|MEST_uc003vqf.3_Silent_p.I22I|MEST_uc011kph.2_Silent_p.I31I|MIR335_uc011kpi.2_5'Flank	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	31					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ACCTGCACATCCCACCCCCTC	0.562000														95			104		0	0	0.014410	0	0
BCL11A	53335	broad.mit.edu	37	2	60773247	60773247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:60773247C>T	uc002sae.1	-	1	472	c.244G>A	c.(244-246)Gat>Aat	p.D82N	BCL11A_uc002sab.3_Missense_Mutation_p.D82N|BCL11A_uc002sac.3_Missense_Mutation_p.D82N|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.D82N|BCL11A_uc002saf.1_Missense_Mutation_p.D82N|BCL11A_uc010fcg.3_Missense_Mutation_p.D82N	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	82	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V81M(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTGGCTTATCCACAGCTTTT	0.478000			T	IGH@	B-CLL									118			76		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100687065	100687065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100687065C>T	uc003uxp.1	+	2	12421	c.12368C>T	c.(12367-12369)cCc>cTc	p.P4123L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4123						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGAGCAACCCCACCTCAACT	0.458000														72			51		0	0	0.014410	0	0
ACSM1	116285	broad.mit.edu	37	16	20696709	20696709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:20696709G>A	uc002dhm.1	-	1	277	c.209C>T	c.(208-210)cCa>cTa	p.P70L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P70L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	70					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCTGGATTTGGACCTCTCTT	0.463000														101			59		0	0	0.014410	0	0
CSDE1	7812	broad.mit.edu	37	1	115276669	115276670	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:115276669_115276670CC>TT	uc001efi.3	-	8	1311_1312	c.789_790GG>AA	c.(787-792)aagggt>aaAAgt	p.G264S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.G218S|CSDE1_uc001efm.3_Missense_Mutation_p.G233S|CSDE1_uc009wgv.3_Missense_Mutation_p.G218S|CSDE1_uc001efl.3_Missense_Mutation_p.G187S|CSDE1_uc001efn.3_Missense_Mutation_p.G187S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	218					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		TCTAAGTCACCCTTAAATTCAC	0.351000														47			25		0	0	0.004672	0	0
OTOL1	131149	broad.mit.edu	37	3	161220831	161220831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:161220831G>A	uc011bpb.2	+	3	535	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	179						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGCCCTAAGGGAGATAAAGG	0.413000														4			3		0	0	0.009096	0	0
SGIP1	84251	broad.mit.edu	37	1	67147864	67147864	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:67147864T>C	uc001dcr.3	+	14	1344	c.1127T>C	c.(1126-1128)tTa>tCa	p.L376S	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.L143S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	376	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCGCTCAATTTAGAAGAAGTC	0.537000														111			73		0	0	0.014410	0	0
OR2J2	26707	broad.mit.edu	37	6	29142225	29142225	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:29142225G>A	uc011dlm.2	+	0	915	c.813G>A	c.(811-813)caG>caA	p.Q271Q		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCCTGATCAGGGCAAGTTCA	0.433000														78			100		0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124399434	124399434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:124399434C>T	uc001uft.4	+	60	10281	c.10256C>T	c.(10255-10257)tCc>tTc	p.S3419F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3419	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATGAGCTCTCCGTTCAGAAT	0.557000														13			10		0	0	0.013537	0	0
CRISP2	7180	broad.mit.edu	37	6	49668428	49668428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:49668428C>T	uc003ozn.2	-	4	372	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CRISP2_uc003ozr.2_Missense_Mutation_p.E46K|CRISP2_uc003ozo.2_Missense_Mutation_p.E46K|CRISP2_uc003ozm.2_Missense_Mutation_p.E46K|CRISP2_uc003ozp.2_Missense_Mutation_p.E46K|CRISP2_uc003ozq.2_Missense_Mutation_p.E46K|CRISP2_uc003ozl.2_Missense_Mutation_p.E46K	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	46						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTCCTTAGTTCATTGTGTTTA	0.413000														37			61		0	0	0.014410	0	0
ANXA2	302	broad.mit.edu	37	9	33625140	33625141	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:33625140_33625141GA>AC	uc010mjx.3	+	0	918_919	c.869_870GA>AC	c.(868-870)aga>aAC	p.R290N	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	290					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GTCCTGATCAGAATCATGGTCT	0.475000														13			9		0	0	0.004672	0	0
UBA6	55236	broad.mit.edu	37	4	68489893	68489893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:68489893G>A	uc003hdg.4	-	29	2843	c.2791C>T	c.(2791-2793)Cca>Tca	p.P931S		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	931					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACTACAATTGGAATGGCTAAG	0.313000														42			24		0	0	0.002780	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786096	156786096	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:156786096C>T	uc021ygm.1	+	23	2892	c.2754C>T	c.(2752-2754)ctC>ctT	p.L918L	CYFIP2_uc011ddn.2_Silent_p.L893L|CYFIP2_uc011ddo.2_Silent_p.L723L|CYFIP2_uc021ygn.1_Silent_p.L918L|CYFIP2_uc021ygo.1_Silent_p.L918L|CYFIP2_uc003lwt.3_Silent_p.L822L|CYFIP2_uc011ddp.2_Silent_p.L653L	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	944					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGCAGACTCCTGGGTTATC	0.498000														147			79		0	0	0.014410	0	0
SENP2	59343	broad.mit.edu	37	3	185307940	185307941	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:185307940_185307941CC>TT	uc003fpn.3	+	1	311_312	c.140_141CC>TT	c.(139-141)gcc>gTT	p.A47V	SENP2_uc011brv.2_Missense_Mutation_p.A37V|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	47					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAAATACCAGCCAAAAGACCAA	0.257000														27			12		0	0	0.004672	0	0
UAP1	6675	broad.mit.edu	37	1	162567609	162567610	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:162567609_162567610CC>TT	uc001gce.4	+	8	1715_1716	c.1386_1387CC>TT	c.(1384-1389)atccaa>atTTaa	p.Q463*		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	480					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATGTACCAATCCAATGTGAAAT	0.342000														90			38		0	0	0.004672	0	0
BCL9L	283149	broad.mit.edu	37	11	118773103	118773103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118773103G>A	uc001pug.3	-	5	2314	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	BCL9L_uc009zal.3_Missense_Mutation_p.P445L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	450	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCTGGGGGGGAGGGGGGGC	0.672000														23			21		0	0	0.008871	0	0
KBTBD12	166348	broad.mit.edu	37	3	127703092	127703092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:127703092G>A	uc010hsr.3	+	4	1846	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	KBTBD12_uc003ejy.4_Missense_Mutation_p.D222N|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.D190N	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	615										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCCGCCTTCAGATTTGGTGGA	0.542000														44			32		0	0	0.010818	0	0
CCDC147	159686	broad.mit.edu	37	10	106125629	106125629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:106125629G>A	uc001kyh.3	+	4	789	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	219										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCGGAAGAAGGAAAAACTAGA	0.493000														13			17		0	0	0.006122	0	0
C21orf56	84221	broad.mit.edu	37	21	47581594	47581594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:47581594G>A	uc011afu.2	-	4	1784	c.722C>T	c.(721-723)tCc>tTc	p.S241F	C21orf56_uc002zii.3_Missense_Mutation_p.S87F	NM_001142854	NP_115637	Q9H0A9	CU056_HUMAN	Homo sapiens chromosome 21 open reading frame 56 (C21orf56), transcript variant 1, mRNA.	241							protein binding			kidney(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.241)		CTCGTCCACGGAGCCGTCCAG	0.721000														11			5		0	0	0.000602	0	0
KRT76	51350	broad.mit.edu	37	12	53170631	53170631	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:53170631C>A	uc001sax.3	-	0	499	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	149	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAAGCCCCCAGGGCCAAAG	0.577000														20			7		0.00198382	0.00202421	0.001984	1	0
NEK5	341676	broad.mit.edu	37	13	52639552	52639552	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:52639552G>A	uc001vge.3	-	21	2258	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	706							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D705D(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)		ATCACATCAGGATGAGCACTG	0.483000														108			28		0	0	0.007291	0	0
ZNF12	7559	broad.mit.edu	37	7	6730593	6730593	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:6730593G>A	uc003sqt.1	-	4	2534	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	ZNF12_uc011jxa.1_Silent_p.P498P|ZNF12_uc003sqs.1_Silent_p.P622P	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	660					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TACACTCATAGGGTTTCTCTC	0.388000														69			24		0	0	0.003330	0	0
DAGLB	221955	broad.mit.edu	37	7	6465718	6465718	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:6465718G>A	uc003sqa.3	-	6	1127	c.957C>T	c.(955-957)gaC>gaT	p.D319D	DAGLB_uc011jwt.2_Silent_p.D133D|DAGLB_uc011jwu.2_Silent_p.D190D|DAGLB_uc003sqb.3_Silent_p.D38D|DAGLB_uc003sqc.3_Silent_p.D38D|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Silent_p.D278D|DAGLB_uc011jww.1_Non-coding_Transcript	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	319					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTCCGACCAAGTCATAGTCTG	0.532000														82			32		0	0	0.012213	0	0
VWA1	64856	broad.mit.edu	37	1	1372758	1372758	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:1372758C>T	uc001afs.3	+	1	751	c.525C>T	c.(523-525)ttC>ttT	p.F175F	VWA1_uc001afr.3_Missense_Mutation_p.P44S	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	175	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGGCAACTTCCTGGAGCTGT	0.632000														14			22		0	0	0.010504	0	0
FAM27L	284123	broad.mit.edu	37	17	21825499	21825499	+	RNA	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:21825499G>T	uc002gyz.3	+	0		c.130G>T								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gggccgactaggatgacgaaa	0.647000														50			18		0.00741294	0.00755249	0.007413	1	0
GPD1L	23171	broad.mit.edu	37	3	32207311	32207311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:32207311C>T	uc003cew.3	+	7	1166	c.965C>T	c.(964-966)cCa>cTa	p.P322L		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	322					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity	p.P322S(1)		large_intestine(4)|lung(7)|ovary(1)	12						ACTAGGTTTCCATTGTTTACT	0.408000														34			17		0	0	0.008871	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57987900	57987900	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:57987900C>T	uc001sou.3	+	1	398	c.267C>T	c.(265-267)ttC>ttT	p.F89F	PIP4K2C_uc001sot.3_Silent_p.F89F|PIP4K2C_uc010srs.2_Intron|PIP4K2C_uc010srt.2_Silent_p.F89F	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	89	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATCACCTTTTCCACAGGTAAG	0.428000														29			11		0	0	0.010729	0	0
OR6C70	390327	broad.mit.edu	37	12	55863729	55863729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55863729G>A	uc010spn.2	-	0	194	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTCCAGAAAAGAGAAATTACG	0.408000														44			20		0	0	0.008871	0	0
MFAP4	4239	broad.mit.edu	37	17	19289711	19289711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:19289711G>A	uc002gvs.3	-	2	325	c.224C>T	c.(223-225)tCa>tTa	p.S75L	MFAP4_uc002gvt.3_Missense_Mutation_p.S51L	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	51	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.E75K(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACGCCGTCTGACTGGTAGCC	0.617000														11			10		0	0	0.008291	0	0
PKP4	8502	broad.mit.edu	37	2	159523019	159523019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:159523019C>T	uc002tzv.3	+	15	2932	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	PKP4_uc002tzu.3_Missense_Mutation_p.S891F|PKP4_uc002tzw.3_Missense_Mutation_p.S891F|PKP4_uc002tzx.3_Missense_Mutation_p.S548F|PKP4_uc002uaa.3_Missense_Mutation_p.S743F|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Missense_Mutation_p.S72F|PKP4_uc002uae.1_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	891					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTGTTTCTTCCGTGGCAACA	0.483000										HNSCC(62;0.18)				36			39		0	0	0.009718	0	0
TNXB	7148	broad.mit.edu	37	6	32062967	32062967	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32062967C>T	uc003nzl.2	-	4	2445	c.2243_splice	c.e4-1	p.E748_splice		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	747					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						TGGTTGGCACCTCTGCCCAAG	0.562000														35			13		0	0	0.002450	0	0
LHCGR	3973	broad.mit.edu	37	2	48915500	48915500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:48915500C>T	uc002rwu.4	-	10	1506	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	479					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R479L(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGTCTTAATCGCAGCTTTTG	0.448000														40			33		0	0	0.013726	0	0
VWA5A	4013	broad.mit.edu	37	11	124006949	124006949	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:124006949C>T	uc001pzu.3	+	12	1682	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	VWA5A_uc001pzt.3_Silent_p.I491I	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	491								p.I491I(2)|p.V490I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTGTCATCTTTAGGGGTC	0.493000														74			32		0	0	0.010818	0	0
KLHL13	90293	broad.mit.edu	37	X	117043967	117043967	+	Silent	SNP	C	T	T	rs11540264		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117043967C>T	uc011mtp.2	-	5	805	c.672G>A	c.(670-672)aaG>aaA	p.K224K	KLHL13_uc004eqk.3_Silent_p.K170K|KLHL13_uc004eql.3_Silent_p.K221K|KLHL13_uc011mtn.2_Silent_p.K61K|KLHL13_uc011mto.2_Silent_p.K215K|KLHL13_uc011mtq.2_Silent_p.K205K|KLHL13_uc004eqm.3_Silent_p.K179K|KLHL13_uc022cde.1_Silent_p.K205K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	221	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.F223I(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGGAAAATTCTTCAAGACGA	0.428000														89			48		0	0	0.014410	0	0
TSHR	7253	broad.mit.edu	37	14	81609961	81609961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:81609961G>A	uc001xvd.1	+	9	1715	c.1559G>A	c.(1558-1560)tGg>tAg	p.W520*		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	520					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R519S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTGGAGCGCTGGTATGCCATC	0.597000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							33			21		0	0	0.012319	0	0
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:7666085C>T	uc003gkb.4	+	6	958	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_uc011bwi.2_Missense_Mutation_p.R148W	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	320						integral to membrane	neuropeptide receptor activity	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597000														12			4		0	0	0.009096	0	0
AOC2	314	broad.mit.edu	37	17	41002308	41002309	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:41002308_41002309CC>TT	uc002ibu.3	+	3	2249_2250	c.2214_2215CC>TT	c.(2212-2217)ctcccc>ctTTcc	p.P739S	AOC2_uc002ibt.3_Missense_Mutation_p.P712S|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	739					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.P739P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGCCTGCCTCCCCGACCTGGC	0.584000														178			75		0	0	0.004672	0	0
IPO5	3843	broad.mit.edu	37	13	98645174	98645174	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:98645174A>T	uc001vne.3	+	9	932	c.752A>T	c.(751-753)gAt>gTt	p.D251V	IPO5_uc001vnf.1_Missense_Mutation_p.D233V|IPO5_uc010tik.1_Missense_Mutation_p.D108V|IPO5_uc010til.1_Missense_Mutation_p.D173V	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	233					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TACCAGAATGATGATTCTGTC	0.398000														68			85		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13901505	13901505	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:13901505C>T	uc003jfd.2	-	13	1950	c.1908G>A	c.(1906-1908)agG>agA	p.R636R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGCTGAATCCTATGGAAGA	0.517000									Kartagener syndrome					24			16		0	0	0.007413	0	0
KIAA1755	85449	broad.mit.edu	37	20	36846738	36846738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:36846738G>A	uc002xhy.1	-	11	2859	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Missense_Mutation_p.R141W	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	863										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCAGGCACCGCCTTCCTTCC	0.577000														25			26		0	0	0.003954	0	0
DENND2A	27147	broad.mit.edu	37	7	140301368	140301368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:140301368C>T	uc010lnk.3	-	2	1350	c.830G>A	c.(829-831)gGa>gAa	p.G277E	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G277E|DENND2A_uc003vvw.3_Missense_Mutation_p.G277E|DENND2A_uc003vvx.3_Missense_Mutation_p.G277E	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	277										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTCCCCTTCTCCGGCATGTTT	0.577000														203			70		0	0	0.014410	0	0
MYOT	9499	broad.mit.edu	37	5	137223044	137223044	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137223044A>G	uc011cye.2	+	9	1484	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.3_5'Flank|PKD2L2_uc003lby.3_5'Flank|MYOT_uc003lbv.3_Silent_p.Q489Q|MYOT_uc011cyg.2_Silent_p.Q305Q|MYOT_uc011cyh.2_Silent_p.Q374Q	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	489	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCAGCTCAATCTGGACTCT	0.328000														47			40		0	0	0.010771	0	0
KRT75	9119	broad.mit.edu	37	12	52828043	52828044	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:52828043_52828044CC>TT	uc001saj.2	-	0	67_68	c.45_46GG>AA	c.(43-48)aggggc>agAAgc	p.G16S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	16	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTGCTGAAGCCCCTGCGGCTGC	0.678000														12			19		0	0	0.004672	0	0
MXRA5	25878	broad.mit.edu	37	X	3229630	3229630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:3229630G>A	uc004crg.4	-	6	6771	c.6614C>T	c.(6613-6615)aCc>aTc	p.T2205I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2205	Ig-like C2-type 6.					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)				CACCACCAGGGTCCCATTGGC	0.448000														75			42		0	0	0.013114	0	0
SETD3	84193	broad.mit.edu	37	14	99865352	99865352	+	Silent	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:99865352A>C	uc001ygc.3	-	12	1619	c.1449T>G	c.(1447-1449)gcT>gcG	p.A483A		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	483					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCCGGTTGACAGCTGCACTCT	0.473000														88			54		0	0	0.014410	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966888	39966888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:39966888G>A	uc003ayc.3	+	0	131	c.131G>A	c.(130-132)gGa>gAa	p.G44E	CACNA1I_uc003ayd.3_Missense_Mutation_p.G44E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	44					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCTCTGGATGGAGCTGATCCT	0.667000														73			30		0	0	0.012213	0	0
SYNJ1	8867	broad.mit.edu	37	21	34099161	34099161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:34099161G>A	uc002yqh.2	-	1	163	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SYNJ1_uc011ads.1_Missense_Mutation_p.P16S|SYNJ1_uc002yqf.2_Missense_Mutation_p.P16S|SYNJ1_uc002yqg.2_Missense_Mutation_p.P16S|SYNJ1_uc002yqi.2_Missense_Mutation_p.P55S|GCFC1-AS1_uc002yqj.2_5'Flank|GCFC1-AS1_uc002yqk.3_5'Flank	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	16							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P16T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGAAAGGTGGGGGATCCAAT	0.483000														68			37		0	0	0.003755	0	0
ATP2B4	493	broad.mit.edu	37	1	203667458	203667458	+	Missense_Mutation	SNP	C	T	T	rs148385288	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:203667458C>T	uc001gzw.3	+	2	1264	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ATP2B4_uc001gzv.3_Missense_Mutation_p.R123C|ATP2B4_uc009xaq.3_Missense_Mutation_p.R123C	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	123					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCTTTTATCGCCCTGCTGG	0.483000														74			38		0	0	0.008740	0	0
MYO1C	4641	broad.mit.edu	37	17	1374529	1374529	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:1374529T>A	uc002fsp.3	-	19	2343	c.2123A>T	c.(2122-2124)tAc>tTc	p.Y708F	MYO1C_uc002fsn.3_Missense_Mutation_p.Y689F|MYO1C_uc002fso.3_Missense_Mutation_p.Y673F|MYO1C_uc010vqj.1_Missense_Mutation_p.Y673F|MYO1C_uc010vqk.1_Missense_Mutation_p.Y684F	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	708	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCATCTTGTACTCTTCTGG	0.632000														36			15		0	0	0.003163	0	0
FHL1	2273	broad.mit.edu	37	X	135288739	135288739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:135288739G>A	uc004ezo.3	+	2	477	c.148G>A	c.(148-150)Gac>Aac	p.D50N	FHL1_uc010nrz.2_Missense_Mutation_p.D50N|FHL1_uc004ezq.2_Missense_Mutation_p.D50N|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.D50N|FHL1_uc011mvy.1_Missense_Mutation_p.D50N|FHL1_uc004ezn.2_Missense_Mutation_p.D50N|FHL1_uc022ceu.1_Missense_Mutation_p.D50N|FHL1_uc011mwa.1_Missense_Mutation_p.D79N|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.D66N|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	50	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CATCGGTGCGGACTCCAAGGT	0.547000														125			63		0	0	0.014410	0	0
DPYS	1807	broad.mit.edu	37	8	105440329	105440329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:105440329C>T	uc003yly.4	-	5	1100	c.971G>A	c.(970-972)gGg>gAg	p.G324E		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	324					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTATCAGTCCCTGTTGTGGT	0.433000														72			38		0	0	0.007835	0	0
VWF	7450	broad.mit.edu	37	12	6122779	6122779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6122779G>A	uc001qnn.1	-	31	5738	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1830	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCATCGTAGCGATCTCCAATT	0.532000														47			30		0	0	0.012213	0	0
CENPE	1062	broad.mit.edu	37	4	104057328	104057328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:104057328C>T	uc003hxb.1	-	39	6582	c.6492G>A	c.(6490-6492)atG>atA	p.M2164I	CENPE_uc003hxc.1_Missense_Mutation_p.M2043I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2164	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTGGAATTCCATGGAGCATC	0.318000														69			49		0	0	0.014410	0	0
KDR	3791	broad.mit.edu	37	4	55948709	55948709	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:55948709G>A	uc003has.3	-	27	4058	c.3756C>T	c.(3754-3756)atC>atT	p.I1252I	KDR_uc003hat.1_Silent_p.I1252I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1252					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTACATCTGGGATTACTTTTA	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				63			31		0	0	0.012213	0	0
CNIH4	29097	broad.mit.edu	37	1	224553590	224553591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:224553590_224553591CC>TT	uc001hom.1	+	2	180_181	c.148_149CC>TT	c.(148-150)cca>TTa	p.P50L	CNIH4_uc001hon.1_Non-coding_Transcript	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	Homo sapiens cornichon homolog 4 (Drosophila) (CNIH4), mRNA.	50					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTGGGTAATTCCAGAATTGATT	0.386000														101			59		0	0	0.004672	0	0
GBP5	115362	broad.mit.edu	37	1	89732744	89732745	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:89732744_89732745GG>AA	uc001dnc.3	-	5	1057_1058	c.520_521CC>TT	c.(520-522)cca>TTa	p.P174L	GBP5_uc001dnd.3_Missense_Mutation_p.P174L|GBP5_uc001dne.1_Missense_Mutation_p.P174L	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	174						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACTAAGTCTGGGAAGAAGCTC	0.490000														97			49		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750016	140750016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140750016C>T	uc003ljw.2	+	0	55	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.L19F	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCTATTTCTCTTCCTGCT	0.577000														37			15		0	0	0.002450	0	0
AP3S1	1176	broad.mit.edu	37	5	115249063	115249063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:115249063G>A	uc003krl.3	+	5	574	c.458G>A	c.(457-459)gGc>gAc	p.G153D	AP3S1_uc003krk.3_Missense_Mutation_p.G131D	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	153					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ATACAGGCTGGCTTAGCAGGA	0.363000														50			19		0	0	0.007413	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707543	96707543	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:96707543C>T	uc001kka.4	+	3	514	c.489C>T	c.(487-489)ccC>ccT	p.P163P	CYP2C9_uc009xut.3_Silent_p.P163P	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	163					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)	TAGCCTCACCCTGTGATCCCA	0.303000														36			50		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262387	140262387	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140262387C>T	uc003lif.2	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F	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_uc003lie.1_Silent_p.F178F|PCDHAC2_uc003lid.3_Silent_p.F178F	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	193	Cadherin 2.				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)			ACGATTATTTCACTTTGGACG	0.433000														83			30		0	0	0.010818	0	0
GATA1	2623	broad.mit.edu	37	X	48652475	48652475	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48652475C>T	uc004dkq.4	+	5	1237	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	382					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCATGCCTTTCCCTGGACCCC	0.662000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									30			10		0	0	0.010729	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507964	51507964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:51507964C>T	uc001zyz.4	-	7	1045	c.794G>A	c.(793-795)aGg>aAg	p.R265K	CYP19A1_uc001zza.4_Missense_Mutation_p.R265K|CYP19A1_uc001zzb.2_Missense_Mutation_p.R265K|CYP19A1_uc001zzc.1_Non-coding_Transcript	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	265					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGTGGAAATCCTGCGTCTTTT	0.373000														78			44		0	0	0.014410	0	0
BSN	8927	broad.mit.edu	37	3	49680262	49680263	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49680262_49680263CC>TT	uc003cxe.4	+	2	1309_1310	c.1195_1196CC>TT	c.(1195-1197)ccc>TTc	p.P399F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	399					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)		TGGCCCAAAACCCTTGGGCTCA	0.639000														58			17		0	0	0.004672	0	0
CMYA5	202333	broad.mit.edu	37	5	79028080	79028080	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:79028080C>T	uc003kgc.3	+	1	3564	c.3492C>T	c.(3490-3492)acC>acT	p.T1164T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1164						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGAAGAAACCAAACCTGCAT	0.448000														32			18		0	0	0.006122	0	0
TRIP6	7205	broad.mit.edu	37	7	100466486	100466486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100466486C>T	uc003uww.3	+	3	903	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Nonsense_Mutation_p.Q224*|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	245					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGGGCCCCAGGTGAGCCC	0.607000														39			7		0	0	0.001984	0	0
VWA3A	146177	broad.mit.edu	37	16	22132860	22132860	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:22132860C>T	uc010vbq.2	+	13	1374	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.V413V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	426						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TATATCAGGTCCTGGCACCCA	0.413000														118			58		0	0	0.014410	0	0
OR51T1	401665	broad.mit.edu	37	11	4903118	4903118	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:4903118C>G	uc010qyp.2	+	0	70	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTCAGTGTCTTCAACCAAC	0.333000														45			15		0	0	0.004007	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953117	92953117	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:92953117G>A	uc001yak.3	+	13	1553	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	SLC24A4_uc001yai.3_Silent_p.A446A|SLC24A4_uc010twm.2_Silent_p.A491A|SLC24A4_uc010auj.3_Silent_p.A382A|SLC24A4_uc010twn.2_Silent_p.A266A|SLC24A4_uc001yan.3_Silent_p.A204A	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	510						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TAATTGTGGCGAGACAAGGTA	0.527000														21			10		0	0	0.006214	0	0
ZNF423	23090	broad.mit.edu	37	16	49671655	49671655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:49671655G>A	uc002efs.3	-	4	1706	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S	ZNF423_uc010vgn.2_Missense_Mutation_p.P353S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	470					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCATCACAGGGTAGGCATGG	0.572000														25			28		0	0	0.012213	0	0
OR52E2	119678	broad.mit.edu	37	11	5080030	5080030	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5080030G>A	uc010qyw.2	-	0	828	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATTGGCTAGGAGTATATGGA	0.423000														67			34		0	0	0.005524	0	0
DSG2	1829	broad.mit.edu	37	18	29126575	29126575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29126575G>A	uc002kwu.4	+	14	3414	c.3226G>A	c.(3226-3228)Gtg>Atg	p.V1076M	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	1076					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAACACCACGGTGTCTGGAGC	0.473000														82			44		0	0	0.011902	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774692	140774692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140774692C>T	uc003lkd.2	+	0	3210	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.P771L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	780					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCTTTCCCCAGCCCAAC	0.478000														81			39		0	0	0.013114	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530763	140530763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140530763G>A	uc003lir.3	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATTTTGAGGAAATTCAGTC	0.463000														55			31		0	0	0.009535	0	0
MTSS1	9788	broad.mit.edu	37	8	125568001	125568002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:125568001_125568002CC>TT	uc003yrl.2	-	13	2094_2095	c.1560_1561GG>AA	c.(1558-1563)gaggac>gaAAac	p.D521N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.D166N|MTSS1_uc011lin.1_Missense_Mutation_p.D291N|MTSS1_uc011lio.1_Missense_Mutation_p.D407N|MTSS1_uc003yri.2_Missense_Mutation_p.D235N|MTSS1_uc003yrj.2_Missense_Mutation_p.D492N|MTSS1_uc003yrk.2_Missense_Mutation_p.D517N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	517					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGATGGTGTCCTCAGAGCAGC	0.599000														12			5		0	0	0.004672	0	0
ATG2A	23130	broad.mit.edu	37	11	64675085	64675086	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64675085_64675086GG>AA	uc001obx.3	-	17	2673_2674	c.2558_2559CC>TT	c.(2557-2559)ccc>cTT	p.P853L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	853							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGGCGGGGTCGGGGGTGGGAAG	0.634000														5			11		0	0	0.004672	0	0
SELP	6403	broad.mit.edu	37	1	169572414	169572414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:169572414C>T	uc001ggi.4	-	9	1620	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	SELP_uc001ggh.3_Missense_Mutation_p.G354R|SELP_uc009wvr.3_Missense_Mutation_p.G519R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	519	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)	GTCATTGTTCCATTCTGAGGG	0.423000														86			42		0	0	0.013114	0	0
PRSS37	136242	broad.mit.edu	37	7	141537845	141537845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141537845G>A	uc003vws.2	-	2	617	c.245C>T	c.(244-246)cCc>cTc	p.P82L	PRSS37_uc011krl.2_Missense_Mutation_p.P82L|PRSS37_uc011krk.2_Missense_Mutation_p.P69L|PRSS37_uc003vwt.2_Missense_Mutation_p.P39L	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	82	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GATCTGAATGGGGTTAATTGT	0.488000														135			118		0	0	0.014410	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798460	137798460	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:137798460G>T	uc003vtz.3	+	7	967	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	AKR1D1_uc011kqf.2_Nonsense_Mutation_p.E253*|AKR1D1_uc011kqe.1_Intron|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	294					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTCACTGAAGAAGAAATGAA	0.408000														44			34		1.90571e-15	1.96676e-15	0.004289	1	0
SPTBN2	6712	broad.mit.edu	37	11	66457550	66457550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:66457550C>T	uc001ojd.3	-	26	5842	c.5770G>A	c.(5770-5772)Gat>Aat	p.D1924N	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1924					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGACCTCATCCATCCAGAGC	0.632000														86			58		0	0	0.014410	0	0
CDCA2	157313	broad.mit.edu	37	8	25323824	25323825	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:25323824_25323825CC>TT	uc003xep.1	+	4	998_999	c.521_522CC>TT	c.(520-522)tcc>tTT	p.S174F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S174F|CDCA2_uc003xeq.1_Missense_Mutation_p.S159F|CDCA2_uc003xer.1_5'Flank	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	174					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGAAAAGAGTCCGAGATGACAG	0.381000														49			27		0	0	0.004672	0	0
GFPT2	9945	broad.mit.edu	37	5	179757801	179757801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:179757801C>T	uc003mlw.1	-	5	531	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	145	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTCTCTGTATCTGTTTCTGAC	0.463000														39			22		0	0	0.010504	0	0
VEGFB	7423	broad.mit.edu	37	11	64004989	64004989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64004989C>T	uc001nyw.3	+	5	758	c.508C>T	c.(508-510)Cca>Tca	p.P170S	VEGFB_uc001nyx.3_Intron	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	170					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CCATCCCACTCCAGCCCCAGG	0.726000														35			12		0	0	0.010729	0	0
PADI6	353238	broad.mit.edu	37	1	17698840	17698840	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:17698840T>G	uc001bak.1	+	0	100	c.100T>G	c.(100-102)Tgc>Ggc	p.C34G		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	26					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGAAATCTGCTTGGATCT	0.612000														50			43		0	0	0.010771	0	0
SERPINA3	12	broad.mit.edu	37	14	95081291	95081291	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:95081291G>A	uc001ydp.3	+	1	672	c.513G>A	c.(511-513)caG>caA	p.Q171Q	SERPINA3_uc001ydo.4_Silent_p.Q196Q|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.Q171Q|SERPINA3_uc001yds.3_Silent_p.Q171Q	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	171					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGACTTTCAGGACTCAGCTG	0.498000														49			29		0	0	0.007291	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698246	111698246	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:111698246A>T	uc022cct.1	+	0	290	c.290A>T	c.(289-291)aAa>aTa	p.K97I	ZCCHC16_uc004epo.1_Missense_Mutation_p.K97I	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	97							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCCAGATCAAACTCTTTTTT	0.418000														73			36		0	0	0.003755	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62637807	62637807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:62637807G>A	uc001jli.3	-	8	2023	c.1585C>T	c.(1585-1587)Ccg>Tcg	p.P529S	RHOBTB1_uc009xpe.2_Missense_Mutation_p.P467S|RHOBTB1_uc001jlh.3_Missense_Mutation_p.P529S|RHOBTB1_uc001jlj.3_Missense_Mutation_p.P529S|RHOBTB1_uc001jlk.3_Missense_Mutation_p.P529S|RHOBTB1_uc009xpd.3_5'UTR	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	529	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTTATGTTCGGGAGATACACC	0.403000														25			23		0	0	0.003954	0	0
AMPD1	270	broad.mit.edu	37	1	115218214	115218214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:115218214G>A	uc001efe.2	-	11	1763	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	AMPD1_uc001eff.2_Missense_Mutation_p.P568L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	539					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AGTGTAAGATGGATTCTTTTC	0.468000														87			56		0	0	0.014410	0	0
ACVRL1	94	broad.mit.edu	37	12	52308264	52308264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:52308264G>A	uc001rzj.3	+	5	950	c.667G>A	c.(667-669)Ggt>Agt	p.G223S	ACVRL1_uc001rzk.3_Missense_Mutation_p.G223S|ACVRL1_uc010snm.2_Missense_Mutation_p.G49S	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	223	Protein kinase.		G -> R (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CTTGTGGCACGGTGAGAGTGT	0.567000														22			9		0	0	0.006214	0	0
OR4K5	79317	broad.mit.edu	37	14	20388954	20388956	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20388954_20388956GG>AA	uc010tkw.2	+	0	189_191	c.189_191GG>AA	c.(187-192)ttggga>ttAAa	p.G64del		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTTCTCTTGGGAAACCTTTCC	0.433000														496			78		0	0	0.004672	0	0
ROBO2	6092	broad.mit.edu	37	3	77638082	77638082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:77638082C>T	uc011bgk.2	+	17	3336	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	ROBO2_uc021xat.1_Missense_Mutation_p.A910V|ROBO2_uc003dpy.4_Missense_Mutation_p.A894V|ROBO2_uc003dpz.3_Missense_Mutation_p.A898V|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.A21V	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	894					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTAATTATGCTGGTAAGTGA	0.393000														46			29		0	0	0.007291	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766811	111766811	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:111766811A>G	uc010hqb.2	+	4	748	c.578A>G	c.(577-579)tAc>tGc	p.Y193C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.Y48C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	319					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCATCTTGTACAGGTACGAT	0.438000														44			25		0	0	0.006320	0	0
ZNF71	58491	broad.mit.edu	37	19	57133296	57133296	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:57133296A>T	uc002qnm.4	+	2	879	c.641A>T	c.(640-642)tAt>tTt	p.Y214F	ZNF71_uc021vcg.1_Missense_Mutation_p.Y214F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAGAAGCCGTATGTGTGCGAC	0.657000														37			16		0	0	0.004007	0	0
CARM1	10498	broad.mit.edu	37	19	11018818	11018818	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:11018818C>T	uc002mpz.3	+	2	576	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	150					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGCAGTACTTCCAGGTGGGTT	0.652000														39			31		0	0	0.008361	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076759	57076759	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:57076759C>T	uc001njr.3	-	4	3738	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	TNKS1BP1_uc001njs.3_Silent_p.K1142K|TNKS1BP1_uc009ymd.1_Silent_p.K593K	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1142	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CACCTTCCATCTTGCTAGAAG	0.567000														51			23		0	0	0.002780	0	0
OR52N4	390072	broad.mit.edu	37	11	5776099	5776099	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5776099G>A	uc001mbu.3	+	0	177	c.129G>A	c.(127-129)ggG>ggA	p.G43G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTATGGTAGGGAATTGTGGAC	0.453000														65			31		0	0	0.003271	0	0
VASH1	22846	broad.mit.edu	37	14	77242550	77242550	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:77242550G>A	uc001xst.2	+	4	1776	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	282					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGCTGGACGTGGAGCGCCTGG	0.682000														21			8		0	0	0.010729	0	0
GPR112	139378	broad.mit.edu	37	X	135480078	135480078	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:135480078G>A	uc004ezu.1	+	19	8514	c.8223G>A	c.(8221-8223)caG>caA	p.Q2741Q	GPR112_uc010nsb.1_Silent_p.Q2536Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2741					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q2741P(1)		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)					TGAATGAACAGATATTAGCGC	0.398000														105			41		0	0	0.014410	0	0
BRD8	10902	broad.mit.edu	37	5	137497483	137497483	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137497483A>C	uc003lcf.1	-	17	2304	c.2249_splice	c.e17+1	p.R750_splice	BRD8_uc011cyl.2_Splice_Site_p.R529_splice|BRD8_uc021yea.1_Splice_Site_p.R640_splice|BRD8_uc003lcg.3_Splice_Site_p.R823_splice|BRD8_uc003lci.3_Splice_Site_p.R753_splice|BRD8_uc011cym.2_Splice_Site_p.R734_splice|BRD8_uc011cyn.1_Splice_Site_p.R709_splice	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	750	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCATGGCTCACCTCTGCACA	0.428000														26			12		0	0	0.013537	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911449	100911449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:100911449G>A	uc010nnt.2	-	4	1935	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	ARMCX2_uc004eid.2_Missense_Mutation_p.P376S|ARMCX2_uc004eie.3_Missense_Mutation_p.P376S|ARMCX2_uc004eif.3_Missense_Mutation_p.P376S|ARMCX2_uc004eig.3_Missense_Mutation_p.P376S|ARMCX2_uc022caq.1_Missense_Mutation_p.P376S	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	376						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATTTCATAAGGAAAGGGGCGC	0.532000														70			49		0	0	0.014410	0	0
SCN7A	6332	broad.mit.edu	37	2	167327137	167327137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:167327137G>A	uc002udu.2	-	5	782	c.652C>T	c.(652-654)Cct>Tct	p.P218S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	218					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATTTAAAGGAATAATTTTT	0.323000														4			6		0	0	0.001168	0	0
MPDZ	8777	broad.mit.edu	37	9	13125266	13125266	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:13125266G>A	uc010mia.1	-	33	4813	c.4756C>T	c.(4756-4758)Cag>Tag	p.Q1586*	MPDZ_uc003zky.4_Nonsense_Mutation_p.Q148*|MPDZ_uc010mib.3_Nonsense_Mutation_p.Q291*|MPDZ_uc010mhx.3_Nonsense_Mutation_p.Q408*|MPDZ_uc011lmm.2_Nonsense_Mutation_p.Q445*|MPDZ_uc003zkz.4_Nonsense_Mutation_p.Q279*|MPDZ_uc010mhz.3_Nonsense_Mutation_p.Q1553*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.Q1553*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.Q1586*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.Q1586*	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1586					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.Q1586Q(1)		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)		ATCAGAGACTGGGAGCTGTTC	0.512000														31			24		0	0	0.004656	0	0
PREX1	57580	broad.mit.edu	37	20	47244112	47244112	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:47244112C>T	uc002xtw.1	-	38	4934	c.4911G>A	c.(4909-4911)aaG>aaA	p.K1637K	PREX1_uc021wer.1_5'Flank|PREX1_uc002xtv.1_Silent_p.K934K	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1637					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCATCTGGTCCTTGACTCGCA	0.637000														64			30		0	0	0.005524	0	0
POU3F4	5456	broad.mit.edu	37	X	82763742	82763742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:82763742C>T	uc004eeg.2	+	0	474	c.410C>T	c.(409-411)cCt>cTt	p.P137L		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	137					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TACTCGCAGCCTGGCTTCACC	0.682000														7			8		0	0	0.003080	0	0
C2orf71	388939	broad.mit.edu	37	2	29294885	29294885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:29294885C>T	uc002rmt.2	-	0	2243	c.2243G>A	c.(2242-2244)gGg>gAg	p.G748E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	748					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						CTTAGAGTCCCCCAGCATCCT	0.557000														45			27		0	0	0.004656	0	0
FBXO40	51725	broad.mit.edu	37	3	121342087	121342087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:121342087G>A	uc003eeg.2	+	2	2021	c.1811G>A	c.(1810-1812)aGg>aAg	p.R604K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	604	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.R604K(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGCTGATGAGGAATATCTGT	0.498000														64			37		0	0	0.004878	0	0
MYH11	4629	broad.mit.edu	37	16	15829411	15829411	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:15829411C>T	uc002ddx.3	-	26	3446	c.3339G>A	c.(3337-3339)aaG>aaA	p.K1113K	MYH11_uc002ddv.3_Silent_p.K1113K|MYH11_uc002ddw.3_Silent_p.K1106K|MYH11_uc002ddy.3_Silent_p.K1106K|MYH11_uc010bvg.3_Silent_p.K938K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1106					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGGCATTGTTCTTCTGAGCGA	0.547000			T	CBFB	AML									73			41		0	0	0.011902	0	0
SYT8	90019	broad.mit.edu	37	11	1858497	1858497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:1858497G>A	uc001lue.1	+	8	1170	c.1042G>A	c.(1042-1044)Ggt>Agt	p.G348S	SYT8_uc001lud.2_Missense_Mutation_p.G348S|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	348						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGTGCACCTGGGTGCCCGGGC	0.711000														15			12		0	0	0.010729	0	0
CDX2	1045	broad.mit.edu	37	13	28539058	28539058	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:28539058G>A	uc001urv.3	-	1	810	c.636C>T	c.(634-636)acC>acT	p.T212T		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	212					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		TCCTCCGGATGGTGATGTAGC	0.617000			T	ETV6	AML									34			14		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	106471665	106471665	+	RNA	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:106471665C>T	uc021ser.1	-	2491		c.43410G>A								Parts of antibodies, mostly variable regions.																		AAAGAGGATCCTCCAGGTCCA	0.557000														30			21		0	0	0.003954	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671441	51671441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51671441G>A	uc010ycv.2	+	2	590	c.580G>A	c.(580-582)Gga>Aga	p.G194R	SIGLEC17P_uc010ycu.2_Missense_Mutation_p.G194R|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.G194R|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.G194R					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		CTGTGAGCAGGGAACACCCCC	0.632000														56			28		0	0	0.005443	0	0
BTBD11	121551	broad.mit.edu	37	12	108008853	108008853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:108008853C>T	uc001tmk.1	+	6	2436	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	BTBD11_uc009zut.1_Missense_Mutation_p.H639Y|BTBD11_uc001tmj.3_Missense_Mutation_p.H639Y|BTBD11_uc001tml.1_Missense_Mutation_p.H176Y	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	639						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGTACTCCTCATAAATATCC	0.418000														35			26		0	0	0.005443	0	0
ISOC1	51015	broad.mit.edu	37	5	128448568	128448568	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:128448568C>T	uc003kva.3	+	4	789	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	Homo sapiens isochorismatase domain containing 1 (ISOC1), mRNA.	257						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GAACCGGGATCATAGTGACCA	0.428000														67			32		0	0	0.012213	0	0
RNASE4	6038	broad.mit.edu	37	14	21167737	21167737	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:21167737C>T	uc021rol.1	+	0	207	c.207C>T	c.(205-207)cgC>cgT	p.R69R	RNASE4_uc001vxy.4_Silent_p.R69R|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Silent_p.R69R	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	69	Substrate binding.				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACTGCAAGCGCTTCAACACCT	0.493000														68			37		0	0	0.004878	0	0
MAGI3	260425	broad.mit.edu	37	1	114193690	114193690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114193690C>T	uc001edk.3	+	13	2483	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	MAGI3_uc001edh.3_Missense_Mutation_p.R793C|MAGI3_uc001edi.4_Missense_Mutation_p.R768C|MAGI3_uc010owm.2_Missense_Mutation_p.R793C|MAGI3_uc001edj.3_Missense_Mutation_p.R489C	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	793	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.R768L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		TGGTCGGCTCCGCGCAGCTGA	0.438000														49			33		0	0	0.005524	0	0
TST	7263	broad.mit.edu	37	22	37407110	37407110	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:37407110G>A	uc003aqg.3	-	1	1547	c.852C>T	c.(850-852)ccC>ccT	p.P284P	TST_uc003aqh.3_Silent_p.P284P	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	284	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCTCTCTGGGGGGGCCCGGC	0.622000														66			23		0	0	0.002780	0	0
C7	730	broad.mit.edu	37	5	40955635	40955635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:40955635C>T	uc003jmh.3	+	9	1354	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	414	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GACTAATCTTCCTCAAGTCAT	0.413000														80			31		0	0	0.009535	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389153	119389153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:119389153G>A	uc022cdm.1	+	0	1883	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	ZBTB33_uc010nqm.1_Missense_Mutation_p.G628E|ZBTB33_uc004esn.1_Missense_Mutation_p.G628E	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	628	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCAGTAGGGACCACTACA	0.378000														88			56		0	0	0.014410	0	0
OR4K2	390431	broad.mit.edu	37	14	20344704	20344704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20344704C>T	uc001vwh.1	+	0	278	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93F(2)		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)		AAAACCATCTCTTTTGATGGC	0.393000														373			61		0	0	0.014410	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508793	102508793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102508793C>T	uc004ejx.3	-	2	342	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TCEAL8_uc004ejy.3_Missense_Mutation_p.E39K|TCEAL8_uc022cbl.1_Missense_Mutation_p.E39K	NM_153333	NP_699164	Q8IYN2	TCAL8_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 8 (TCEAL8), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						ACGCCTTCTTCGGAAGGTTGA	0.532000														102			64		0	0	0.014410	0	0
FCRL3	115352	broad.mit.edu	37	1	157669493	157669493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:157669493C>T	uc001fqz.4	-	2	333	c.41G>A	c.(40-42)aGa>aAa	p.R14K	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.R14K|FCRL3_uc001frc.1_Missense_Mutation_p.R14K	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	14						integral to membrane|plasma membrane	receptor activity	p.R14K(2)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGATTGTTCTCTTCCAGGAGC	0.478000														15			7		0	0	0.003080	0	0
BGN	633	broad.mit.edu	37	X	152770096	152770096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:152770096C>T	uc004fhr.2	+	1	243	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	3						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCATGTGGCCCCTGTGGCG	0.637000														29			12		0	0	0.010729	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946721	144946721	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:144946721C>T	uc021ouh.1	-	4	842	c.540G>A	c.(538-540)caG>caA	p.Q180Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.Q180Q|PDE4DIP_uc001elx.4_Silent_p.Q246Q|PDE4DIP_uc001emd.2_Silent_p.Q180Q|PDE4DIP_uc001emc.2_Silent_p.Q180Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	180					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGCCAGGCTCTGATTCAGTT	0.423000			T	PDGFRB	MPD									133			17		0	0	0.007413	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851206	31851206	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:31851206G>A	uc001zfq.3	-	2	609	c.516C>T	c.(514-516)atC>atT	p.I172I	OTUD7A_uc001zfr.3_Silent_p.I172I|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Silent_p.I172I	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	172	TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TTGCCTGCTCGATCAAGTCCC	0.567000														25			17		0	0	0.007413	0	0
ITIH6	347365	broad.mit.edu	37	X	54784030	54784031	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:54784030_54784031GG>AA	uc004dtj.2	-	7	2506_2507	c.2476_2477CC>TT	c.(2476-2478)cct>TTt	p.P826F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	826	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGAACCCTAGGTCTGGTGTGT	0.520000														94			51		0	0	0.004672	0	0
FAM113A	64773	broad.mit.edu	37	20	2816841	2816841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:2816841G>A	uc002wgz.1	-	6	1458	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	FAM113A_uc010zqa.1_Missense_Mutation_p.P168S|FAM113A_uc002whc.1_Missense_Mutation_p.P270S	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	321							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						aaaggcatgggaggaggcaaa	0.622000														45			21		0	0	0.010504	0	0
SIDT2	51092	broad.mit.edu	37	11	117066765	117066765	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:117066765A>T	uc001pqh.1	+	25	2523	c.2482A>T	c.(2482-2484)Aag>Tag	p.K828*	SIDT2_uc001pqi.1_Nonsense_Mutation_p.K825*|LOC100652768_uc001pqk.1_Intron	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	828						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCAGCGGGACAAGATCTATGT	0.582000														70			54		0	0	0.014410	0	0
FKBP8	23770	broad.mit.edu	37	19	18649229	18649229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:18649229G>A	uc002njk.1	-	4	679	c.566C>T	c.(565-567)cCc>cTc	p.P189L	FKBP8_uc010xqi.1_Missense_Mutation_p.P218L|FKBP8_uc002njj.1_Missense_Mutation_p.P190L|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	189	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.I189V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGCGTGCGGGGGGATGTATGG	0.672000														12			14		0	0	0.003163	0	0
CNTN5	53942	broad.mit.edu	37	11	100064354	100064354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:100064354G>A	uc001pga.3	+	14	2347	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	CNTN5_uc009ywv.2_Missense_Mutation_p.D615N|CNTN5_uc001pfz.3_Missense_Mutation_p.D615N|CNTN5_uc021qpb.1_Missense_Mutation_p.D615N|CNTN5_uc021qpc.1_Missense_Mutation_p.D541N|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	615	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCCTATTGATTTCGAGGA	0.368000														46			27		0	0	0.012213	0	0
RASGRF1	5923	broad.mit.edu	37	15	79291164	79291164	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:79291164A>T	uc002beq.3	-	18	3173	c.2798T>A	c.(2797-2799)tTt>tAt	p.F933Y	RASGRF1_uc002bep.3_Missense_Mutation_p.F917Y|RASGRF1_uc010blm.1_Missense_Mutation_p.F842Y|RASGRF1_uc002ber.4_Missense_Mutation_p.F917Y|RASGRF1_uc010unh.1_Missense_Mutation_p.F328Y|RASGRF1_uc002beo.3_Missense_Mutation_p.F149Y	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	935					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTGGGGGAAACCCTGGCAG	0.567000														55			21		0	0	0.014323	0	0
NAF1	92345	broad.mit.edu	37	4	164050071	164050071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:164050071G>A	uc003iqj.3	-	7	1657	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	488					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.S488Y(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAAAATGAGAATTACTATC	0.428000														24			19		0	0	0.007413	0	0
UBE2S	27338	broad.mit.edu	37	19	55913083	55913083	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55913083G>A	uc002qkx.1	-	3	758	c.390C>T	c.(388-390)aaC>aaT	p.N130N		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2S (UBE2S), mRNA.	130					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CCGCCTCCTCGTTGAGTGCAG	0.667000														16			18		0	0	0.008871	0	0
CACNA1S	779	broad.mit.edu	37	1	201035038	201035039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:201035038_201035039GG>AA	uc001gvv.3	-	21	3007_3008	c.2780_2781CC>TT	c.(2779-2781)acc>aTT	p.T927I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	927					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTTCCCGATGGTGCTGATGGC	0.619000														19			6		0	0	0.004672	0	0
DPCR1	135656	broad.mit.edu	37	6	30919831	30919832	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30919831_30919832CC>TT	uc003nsg.2	+	1	3590_3591	c.3590_3591CC>TT	c.(3589-3591)acc>aTT	p.T1197I		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	321						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACCATATGCACCAAAGGGAAAA	0.470000														54			58		0	0	0.004672	0	0
LRBA	987	broad.mit.edu	37	4	151753103	151753103	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:151753103A>G	uc010ipj.3	-	28	4839	c.4595T>C	c.(4594-4596)tTa>tCa	p.L1532S	LRBA_uc003ilt.4_Missense_Mutation_p.L191S|LRBA_uc003ilu.4_Missense_Mutation_p.L1532S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1532						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCCAAGGCTAAAAATTGAGC	0.333000														73			32		0	0	0.005524	0	0
IL13RA1	3597	broad.mit.edu	37	X	117880926	117880927	+	Missense_Mutation	DNP	CC	TT	TT	rs141752835		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117880926_117880927CC>TT	uc004eqs.3	+	2	281_282	c.238_239CC>TT	c.(238-240)ccg>TTg	p.P80L	IL13RA1_uc004eqr.1_Missense_Mutation_p.P80L	NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	80						interleukin-13 receptor complex	cytokine receptor activity	p.A79A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GAAAATAGCTCCGGAAACTCGT	0.396000														94			32		0	0	0.004672	0	0
KIAA0182	23199	broad.mit.edu	37	16	85667574	85667575	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:85667574_85667575GG>AA	uc002fix.3	+	1	136_137	c.62_63GG>AA	c.(61-63)agg>aAA	p.R21K	KIAA0182_uc002fiw.3_Intron|KIAA0182_uc002fiy.3_Intron	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	21							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						ACCGCGACCAGGACCACCGCCA	0.673000														21			16		0	0	0.004672	0	0
MYH15	22989	broad.mit.edu	37	3	108135721	108135721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:108135721C>T	uc003dxa.1	-	29	4003	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1316						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1315M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGCTCTTTTCCCTGGAAAGT	0.418000														58			42		0	0	0.007835	0	0
PDGFC	56034	broad.mit.edu	37	4	157771485	157771485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:157771485G>A	uc003iph.2	-	1	693	c.202C>T	c.(202-204)Cca>Tca	p.P68S	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	68	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GTATTTCTTGGATAAGTATGA	0.378000														42			30		0	0	0.009535	0	0
SLC25A10	1468	broad.mit.edu	37	17	79671403	79671404	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:79671403_79671404CC>TT	uc010wut.2	+	1	336_337	c.204_205CC>TT	c.(202-207)gtccag>gtTTag	p.Q69*	SLC25A10_uc002kbh.2_Nonsense_Mutation_p.Q69*	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGCAGCTGGTCCAGGACATCGC	0.594000														21			11		0	0	0.004672	0	0
HDAC6	10013	broad.mit.edu	37	X	48681659	48681659	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48681659G>A	uc011mmi.1	+	24	2945	c.2850G>A	c.(2848-2850)caG>caA	p.Q950Q	HDAC6_uc004dks.1_Silent_p.Q950Q|HDAC6_uc010nig.1_Silent_p.Q798Q|HDAC6_uc004dkt.1_Silent_p.Q950Q|HDAC6_uc011mmk.1_Silent_p.Q931Q|HDAC6_uc004dkv.1_Silent_p.Q598Q|HDAC6_uc004dkw.1_Silent_p.Q598Q|HDAC6_uc004dkx.1_Silent_p.Q313Q	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	950					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTCCGGACCAGACCACCTCAG	0.642000														10			9		0	0	0.004482	0	0
ZNF182	7569	broad.mit.edu	37	X	47836430	47836430	+	Silent	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:47836430T>G	uc004dir.3	-	6	1402	c.1056A>C	c.(1054-1056)ggA>ggC	p.G352G	ZNF182_uc004dis.3_Silent_p.G333G|ZNF182_uc004dit.3_Silent_p.G352G	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGAAAGATTCTCCACATTTAG	0.368000														105			42		0	0	0.011902	0	0
IRGQ	126298	broad.mit.edu	37	19	44097396	44097396	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:44097396C>T	uc002oww.2	-	1	772	c.654G>A	c.(652-654)gaG>gaA	p.E218E	IRGQ_uc010eiv.2_Silent_p.E218E	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	218							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TGCCCAGGCGCTCCAGGCCTG	0.672000														50			30		0	0	0.008361	0	0
LRRK2	120892	broad.mit.edu	37	12	40692938	40692938	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:40692938C>T	uc001rmg.4	+	24	3496	c.3375C>T	c.(3373-3375)ccC>ccT	p.P1125P	LRRK2_uc001rmh.1_Silent_p.P747P|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1125					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATGCTCCCCCTTGAGACTGA	0.328000														69			50		0	0	0.014410	0	0
OPRM1	4988	broad.mit.edu	37	6	154412374	154412374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:154412374C>T	uc011efe.2	+	4	1733	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S	OPRM1_uc011efd.2_Missense_Mutation_p.P211S|OPRM1_uc011efc.1_Missense_Mutation_p.P230S|OPRM1_uc003qpn.2_Missense_Mutation_p.P311S|OPRM1_uc003qpo.1_Missense_Mutation_p.P311S|OPRM1_uc011eff.1_Missense_Mutation_p.P311S|OPRM1_uc011efg.1_Missense_Mutation_p.P311S|OPRM1_uc011efi.2_Missense_Mutation_p.P311S|OPRM1_uc011efh.1_Missense_Mutation_p.P311S|OPRM1_uc003qpq.1_Missense_Mutation_p.P311S|OPRM1_uc003qpr.2_Missense_Mutation_p.P311S|OPRM1_uc003qpt.1_Missense_Mutation_p.P311S|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.P211S|OPRM1_uc003qpu.2_Missense_Mutation_p.P211S	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	311					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GGTTACAATCCCAGAAACTAC	0.468000														29			43		0	0	0.006999	0	0
TCN2	6948	broad.mit.edu	37	22	31008905	31008905	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:31008905C>T	uc003aip.2	+	2	552	c.303C>T	c.(301-303)tcC>tcT	p.S101S	TCN2_uc003air.2_Silent_p.S101S	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	101					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAAGCCTTCCATGGGCCAGC	0.587000														39			23		0	0	0.003954	0	0
ZFP14	57677	broad.mit.edu	37	19	36831391	36831391	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:36831391T>C	uc010xtd.2	-	3	1419	c.1340A>G	c.(1339-1341)cAc>cGc	p.H447R	ZFP14_uc010eex.2_Missense_Mutation_p.H446R	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTCACCAGTGTGAATACTTTG	0.413000														73			41		0	0	0.007835	0	0
ABCA4	24	broad.mit.edu	37	1	94473190	94473190	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:94473190C>T	uc001dqh.3	-	43	6109	c.6005_splice	c.e43+1	p.S2002_splice	ABCA4_uc001dqi.1_Splice_Site_p.S121_splice	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2002	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGATACTCACCTCTTGCCTGC	0.557000														67			28		0	0	0.006320	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520387	110520387	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:110520387G>A	uc003yne.3	+	69	11393	c.11289G>A	c.(11287-11289)ggG>ggA	p.G3763G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3763					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGCTTTGGGATGGAATATG	0.378000										HNSCC(38;0.096)				85			43		0	0	0.014410	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309716	153309716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:153309716G>A	uc001fbo.3	-	7	949	c.884C>T	c.(883-885)tCc>tTc	p.S295F	PGLYRP4_uc001fbp.3_Missense_Mutation_p.S291F	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	295	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGTGGAGGAGCCTTGGAC	0.542000														36			29		0	0	0.007291	0	0
FMN2	56776	broad.mit.edu	37	1	240555833	240555833	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240555833G>A	uc010pye.2	+	15	5118	c.4893G>A	c.(4891-4893)gaG>gaA	p.E1631E	FMN2_uc010pyd.2_Silent_p.E1627E|FMN2_uc010pyf.1_Silent_p.E242E|FMN2_uc010pyg.2_Silent_p.E223E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1627	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	p.M1631T(2)		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)			AAGAGGCAGAGGAAAATTCAC	0.348000														50			25		0	0	0.010818	0	0
GFRA3	2676	broad.mit.edu	37	5	137600188	137600188	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137600188G>A	uc003lcn.3	-	1	281	c.141C>T	c.(139-141)gcC>gcT	p.A47A	GFRA3_uc003lco.3_Silent_p.A47A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	47					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTTCCTCCTGGCCTGGAGAC	0.562000														34			19		0	0	0.014323	0	0
CCDC130	81576	broad.mit.edu	37	19	13873689	13873690	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:13873689_13873690CC>TT	uc002mxc.1	+	9	1215_1216	c.998_999CC>TT	c.(997-999)ccc>cTT	p.P333L	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	333					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCCATGTCCCCCGGAGACTGTC	0.693000														16			7		0	0	0.004672	0	0
C3orf20	84077	broad.mit.edu	37	3	14725882	14725882	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:14725882G>A	uc003byy.3	+	3	1070	c.618G>A	c.(616-618)ttG>ttA	p.L206L	C3orf20_uc003byz.3_Silent_p.L84L|C3orf20_uc003bza.3_Silent_p.L84L|C3orf20_uc003byx.2_Silent_p.L206L	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	206						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCGGACAGTTGTGGAAAGGTG	0.522000														48			25		0	0	0.007291	0	0
FAP	2191	broad.mit.edu	37	2	163029330	163029330	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:163029330G>A	uc002ucd.3	-	24	2380	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	FAP_uc010fpc.3_Silent_p.F273F|FAP_uc010zct.2_Silent_p.F699F	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	724					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCATTGCCTGGAAATCCACTT	0.358000														16			15		0	0	0.004990	0	0
PSG7	5676	broad.mit.edu	37	19	43430025	43430025	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:43430025G>A	uc002ovl.4	-	5	1242	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.I259I	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	381	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				TAATCTGGGGGATAGAAAGCT	0.473000														204			96		0	0	0.014410	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157167	12157167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:12157167C>T	uc001atq.3	+	2	383	c.161C>T	c.(160-162)cCg>cTg	p.P54L	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	54					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.P54P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGTTCCCGACACAGCAG	0.577000														16			22		0	0	0.012319	0	0
LCN1	3933	broad.mit.edu	37	9	138415115	138415115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:138415115G>A	uc022bpk.1	+	2	319	c.259G>A	c.(259-261)Gag>Aag	p.E87K	LCN1_uc022bpj.1_Missense_Mutation_p.E87K|LCN1_uc004cfz.2_Missense_Mutation_p.E87K|LCN1_uc004cga.2_Missense_Mutation_p.E87K	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	87					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GGCCGTCCTGGAGAAAACTGA	0.652000														8			9		0	0	0.004482	0	0
MMRN1	22915	broad.mit.edu	37	4	90857303	90857303	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:90857303T>G	uc003hst.3	+	5	2543	c.2472T>G	c.(2470-2472)taT>taG	p.Y824*	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Nonsense_Mutation_p.Y566*	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	824					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAAGATGTATCAAATGTTCA	0.353000														30			18		0	0	0.007413	0	0
TDRD6	221400	broad.mit.edu	37	6	46656539	46656539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:46656539C>T	uc003oyj.3	+	0	928	c.674C>T	c.(673-675)cCg>cTg	p.P225L	TDRD6_uc010jze.3_Missense_Mutation_p.P225L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	225					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCGGGGTCCCGGTTCTCTCG	0.657000														27			38		0	0	0.004878	0	0
SNED1	25992	broad.mit.edu	37	2	242004792	242004792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:242004792G>A	uc002wah.1	+	20	2791	c.2791G>A	c.(2791-2793)Ggt>Agt	p.G931S	SNED1_uc002wai.1_Missense_Mutation_p.G166S|SNED1_uc002waj.1_Missense_Mutation_p.G18S|SNED1_uc002wak.3_Missense_Mutation_p.G18S	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	931	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCGCCCAATGGTCCAGCCGC	0.607000														12			20		0	0	0.007413	0	0
C16orf90	646174	broad.mit.edu	37	16	3544818	3544818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:3544818C>T	uc002cvi.3	-	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	Homo sapiens chromosome 16 open reading frame 90 (C16orf90), mRNA.	26										large_intestine(1)	1						AGGCCCCCCTCGTAGATGTTG	0.716000														19			13		0	0	0.002450	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253798	81253798	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:81253798C>A	uc002fgh.1	-	0	178	c.178G>T	c.(178-180)Gga>Tga	p.G60*	PKD1L2_uc002fgj.3_Nonsense_Mutation_p.G60*	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	60	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAATGGCCTCCTTGCCCCTCG	0.547000														15			29		2.61193e-14	2.6915e-14	0.009535	1	0
CD4	920	broad.mit.edu	37	12	6909310	6909311	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6909310_6909311CC>TT	uc001qqv.2	+	1	264_265	c.6_7CC>TT	c.(4-9)aaccgg>aaTTgg	p.R3W	CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Missense_Mutation_p.R3W|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	3					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CCACAATGAACCGGGGAGTCCC	0.574000														44			17		0	0	0.004672	0	0
PRR5L	79899	broad.mit.edu	37	11	36484219	36484219	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:36484219A>G	uc001mwo.4	+	8	1429	c.1040A>G	c.(1039-1041)gAc>gGc	p.D347G	PRR5L_uc001mwp.3_Missense_Mutation_p.D347G|PRR5L_uc009ykk.3_Missense_Mutation_p.D219G|PRR5L_uc010rfc.2_3'UTR	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	347										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GACAACCCTGACGGACTGGAG	0.652000														35			13		0	0	0.003163	0	0
PHIP	55023	broad.mit.edu	37	6	79671440	79671440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:79671440G>A	uc011dyp.2	-	30	3846	c.3620C>T	c.(3619-3621)aCa>aTa	p.T1207I	PHIP_uc003piq.3_Missense_Mutation_p.T232I|PHIP_uc003pir.3_Missense_Mutation_p.T1208I|PHIP_uc003pio.4_Missense_Mutation_p.T94I	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1208	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGTTTAATTGTACTTAGATC	0.403000														14			13		0	0	0.001855	0	0
CLCN1	1180	broad.mit.edu	37	7	143048851	143048851	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:143048851G>A	uc003wcr.1	+	22	2847	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G	CLCN1_uc011ktc.1_Silent_p.G532G	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	920					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGGAACAGGGGATGTGATTG	0.622000														38			35		0	0	0.004289	0	0
P4HA2	8974	broad.mit.edu	37	5	131543476	131543476	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:131543476G>A	uc003kwh.3	-	7	1569	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	P4HA2_uc003kwg.3_Silent_p.S335S|P4HA2_uc003kwi.3_Silent_p.S335S|P4HA2_uc003kwk.3_Silent_p.S335S|P4HA2_uc003kwl.3_Silent_p.S335S|P4HA2_uc003kwj.3_Silent_p.S335S	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	335						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGATGTGCGGGCTGTCCCACT	0.532000														128			56		0	0	0.014410	0	0
OR6C3	254786	broad.mit.edu	37	12	55726022	55726022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55726022C>T	uc010spj.2	+	0	538	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGACTATTTTCCCCTCTTACA	0.408000														163			84		0	0	0.014410	0	0
SSPO	23145	broad.mit.edu	37	7	149479935	149479935	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:149479935G>A	uc010lpk.3	+	15	1901	c.1901_splice	c.e15-1	p.G634_splice	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	634	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTTCCAGGAGCTGTGCTG	0.612000														42			22		0	0	0.002780	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136781	40136781	+	Silent	SNP	C	T	T	rs147676362	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:40136781C>T	uc021qgf.1	-	0	1062	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	LRRC4C_uc001mxc.1_Silent_p.P350P|LRRC4C_uc001mxd.1_Silent_p.P350P|LRRC4C_uc001mxa.1_Silent_p.P354P|LRRC4C_uc001mxb.1_Silent_p.P350P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	354	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCACAATCACCGGAGCATAGC	0.522000														57			37		0	0	0.003755	0	0
PDE1A	5136	broad.mit.edu	37	2	183099206	183099206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:183099206G>A	uc002uos.3	-	4	502	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	PDE1A_uc010zfp.1_Missense_Mutation_p.H36Y|PDE1A_uc002uoq.1_Missense_Mutation_p.H140Y|PDE1A_uc010zfq.1_Missense_Mutation_p.H140Y|PDE1A_uc002uor.3_Missense_Mutation_p.H124Y|PDE1A_uc002uou.3_Missense_Mutation_p.H106Y	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	140					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCAACCATATGATATGTTTTT	0.264000														27			27		0	0	0.009535	0	0
DISP1	84976	broad.mit.edu	37	1	223116562	223116562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:223116562C>T	uc001hnu.2	+	3	723	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	133					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)		AAATCATTCACCTGTGTATCA	0.547000														176			104		0	0	0.014410	0	0
GCAT	23464	broad.mit.edu	37	22	38211686	38211686	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:38211686G>A	uc003aua.2	+	6	972	c.909G>A	c.(907-909)ggG>ggA	p.G303G	GCAT_uc003atz.3_Silent_p.G277G	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	277					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACACGACAGGGCCTGGGCCCC	0.657000														70			73		0	0	0.014410	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260652	30260652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:30260652G>A	uc004dcb.3	+	0	596	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	134	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TACAAAGGCAGAAATGCTGAA	0.453000														32			12		0	0	0.001855	0	0
MXRA5	25878	broad.mit.edu	37	X	3235667	3235667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:3235667C>T	uc004crg.4	-	5	6212	c.6055G>A	c.(6055-6057)Gac>Aac	p.D2019N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2019	Ig-like C2-type 4.					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)				ACGCCTCTGTCTGAGAAGGAC	0.642000														28			16		0	0	0.003163	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027473	9027473	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:9027473G>A	uc003brf.1	-	21	3706	c.3030C>T	c.(3028-3030)gcC>gcT	p.A1010A	SRGAP3_uc003brg.1_Silent_p.A986A	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1010					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAAGGGGACTGGCGGGCTCCG	0.657000			T	RAF1	pilocytic astrocytoma									38			25		0	0	0.004656	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366816	37366816	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:37366816C>T	uc003cgv.3	+	13	3799	c.3439C>T	c.(3439-3441)Ctg>Ttg	p.L1147L	GOLGA4_uc010hgr.2_Silent_p.L708L|GOLGA4_uc003cgw.3_Silent_p.L1169L|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.L1028L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1147	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAATAAGTCTCTGAAGGAAAA	0.393000														40			25		0	0	0.003330	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	A	A	rs142884324	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:184008046G>A	uc003fni.4	+	13	1947	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_uc011brh.1_Missense_Mutation_p.E490K|ECE2_uc003fnl.4_Missense_Mutation_p.E565K|ECE2_uc003fnm.4_Missense_Mutation_p.E519K|ECE2_uc003fnk.4_Missense_Mutation_p.E490K|ECE2_uc011bri.1_Missense_Mutation_p.E552K|ECE2_uc010hxv.3_Missense_Mutation_p.E281K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCACAGTACGAAATTTCTGA	0.448000														14			12		0	0	0.013537	0	0
WASF2	10163	broad.mit.edu	37	1	27736314	27736314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27736314G>A	uc001bof.2	-	7	1436	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	404	Poly-Pro.				G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GAAAGGGGGAGGAGGGGGCCC	0.642000														23			21		0	0	0.010504	0	0
ELMO1	9844	broad.mit.edu	37	7	36910028	36910028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:36910028C>T	uc022abv.1	-	19	2585	c.1875G>A	c.(1873-1875)atG>atA	p.M625I	ELMO1_uc003tfi.2_Missense_Mutation_p.M145I|ELMO1_uc003tfj.2_Missense_Mutation_p.M145I|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.M529I|ELMO1_uc003tfk.2_Missense_Mutation_p.M625I|ELMO1_uc010kxg.2_Missense_Mutation_p.M625I	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	625	PH.				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	p.H624Q(1)		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						CTTTCTCTTTCATATGAGGGC	0.448000														77			28		0	0	0.013726	0	0
OTOGL	283310	broad.mit.edu	37	12	80707269	80707269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:80707269C>T	uc001szd.3	+	29	3443	c.3437C>T	c.(3436-3438)tCt>tTt	p.S1146F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GACGTTACTTCTTTTGCCAAA	0.333000														35			17		0	0	0.007413	0	0
MYH8	4626	broad.mit.edu	37	17	10304406	10304406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10304406C>T	uc002gmm.2	-	24	3306	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1071					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTCCATATCCATTGTGGAT	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					45			38		0	0	0.011902	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891995	2891995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:2891995C>T	uc002kln.3	+	3	2029	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	624					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGATGTGACTCATCTTCAAAA	0.423000														52			18		0	0	0.007413	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390513	42390514	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:42390513_42390514GG>AA	uc002igl.4	+	2	539_540	c.265_266GG>AA	c.(265-267)ggg>AAg	p.G89K	RUNDC3A_uc002igi.3_Missense_Mutation_p.G89K|RUNDC3A_uc002igj.3_Missense_Mutation_p.G84K	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 1, mRNA.	89	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGCTCAGACGGGCAGCGGGGC	0.609000														43			21		0	0	0.004672	0	0
GREB1	9687	broad.mit.edu	37	2	11773139	11773139	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:11773139C>T	uc002rbk.1	+	27	5241	c.4941C>T	c.(4939-4941)tcC>tcT	p.S1647S	GREB1_uc002rbp.1_Silent_p.S645S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1647						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGATGACTCCTGCGTGATGT	0.562000														60			28		0	0	0.009535	0	0
SELL	6402	broad.mit.edu	37	1	169677600	169677600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:169677600C>T	uc010pls.2	-	0	398	c.289G>A	c.(289-291)Gat>Aat	p.D97N	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.D157N|SELL_uc001ggl.2_Missense_Mutation_p.D157N	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	144	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CAGGCGTCATCGTTCCATTTG	0.512000														54			42		0	0	0.007835	0	0
YSK4	80122	broad.mit.edu	37	2	135744915	135744915	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:135744915C>T	uc002tue.1	-	6	1558	c.1527G>A	c.(1525-1527)aaG>aaA	p.K509K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.K396K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.K237K|YSK4_uc002tui.4_Silent_p.K526K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	509							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAATGGTTCCCTTTCTTGTTT	0.438000														22			32		0	0	0.008361	0	0
abParts	0	broad.mit.edu	37	14	106725270	106725271	+	RNA	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:106725270_106725271GG>AA	uc021ser.1	-	927		c.22241_22242CC>TT								Parts of antibodies, mostly variable regions.																		GCGTGTTCTTGGAATTGTCTCT	0.535000														478			87		0	0	0.004672	0	0
CDH22	64405	broad.mit.edu	37	20	44879780	44879780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:44879780C>T	uc002xrm.2	-	0	553	c.154G>A	c.(154-156)Gac>Aac	p.D52N	CDH22_uc010ghk.1_Missense_Mutation_p.D52N	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	52					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCGCGCCGTCCTGCCGAGCT	0.726000														19			11		0	0	0.001855	0	0
HK2	3099	broad.mit.edu	37	2	75116533	75116533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:75116533G>A	uc002snd.3	+	16	4463	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	846	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACAGGATACGAGAAAACCGT	0.612000														17			18		0	0	0.004990	0	0
RASD2	23551	broad.mit.edu	37	22	35943045	35943045	+	Silent	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:35943045C>G	uc003anx.3	+	1	394	c.189C>G	c.(187-189)cgC>cgG	p.R63R	RASD2_uc003any.3_Silent_p.R63R	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	63					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						ACAACATCCGCGGCGACATGT	0.597000														41			22		0	0	0.012319	0	0
SETD1A	9739	broad.mit.edu	37	16	30981001	30981001	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30981001G>T	uc002ead.1	+	11	3693	c.3007G>T	c.(3007-3009)Gtg>Ttg	p.V1003L		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1003	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGAGACAGAGGTGTCGGATGG	0.512000														24			9		2.17888e-05	2.22997e-05	0.006214	1	0
C8orf34	116328	broad.mit.edu	37	8	69434061	69434061	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:69434061C>T	uc010lyz.3	+	5	1084	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	C8orf34_uc010lyy.2_Silent_p.L265L|C8orf34_uc003xyb.3_Silent_p.L154L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	179					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)			TTCTTCTCTTCTGAGGCCCCG	0.398000														41			30		0	0	0.013726	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018889	1018889	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:1018889C>T	uc003gce.3	+	6	1430	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	FGFRL1_uc003gcf.3_Silent_p.A423A|FGFRL1_uc003gcg.3_Silent_p.A423A|FGFRL1_uc010ibo.3_Silent_p.A423A	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	423					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGGGACGGCCCGCGACCGCA	0.741000														15			6		0	0	0.001168	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540580	133540580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:133540580C>T	uc002ttp.3	-	13	4178	c.3804G>A	c.(3802-3804)atG>atA	p.M1268I	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1268							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCGCCATTCATACCCAGAG	0.537000														40			48		0	0	0.014410	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438452	38438453	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38438452_38438453CC>TT	uc003jlc.2	+	16	2705_2706	c.2359_2360CC>TT	c.(2359-2361)ccc>TTc	p.P787F	EGFLAM_uc003jlb.2_Missense_Mutation_p.P787F|EGFLAM_uc003jle.2_Missense_Mutation_p.P553F|EGFLAM_uc003jlf.2_Missense_Mutation_p.P153F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	787	EGF-like 3.|Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGCGGCCCACCCCTGTGTGAGA	0.559000														26			18		0	0	0.004672	0	0
PRKAG3	53632	broad.mit.edu	37	2	219693282	219693283	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:219693282_219693283CC>TT	uc002vjb.1	-	4	693_694	c.674_675GG>AA	c.(673-675)cgg>cAA	p.R225Q	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.R225Q	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	225	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGCTGCCCGCACACCGTT	0.614000														6			5		0	0	0.004672	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747451	139747451	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139747451C>T	uc003lfm.2	+	15	2429	c.2394C>T	c.(2392-2394)gcC>gcT	p.A798A	SLC4A9_uc003lfj.2_Silent_p.A774A|SLC4A9_uc011czg.1_Silent_p.A711A|SLC4A9_uc003lfl.2_Silent_p.A774A|SLC4A9_uc003lfk.2_Silent_p.A760A	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	798	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGTGCCCCCGGGGAGC	0.577000														19			10		0	0	0.010729	0	0
CGNL1	84952	broad.mit.edu	37	15	57730863	57730863	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:57730863G>A	uc010bfw.3	+	2	859	c.666G>A	c.(664-666)gtG>gtA	p.V222V	CGNL1_uc002aeg.3_Silent_p.V222V	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	222	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGCTCCGTGGTCATAGAGG	0.547000														122			67		0	0	0.014410	0	0
ATM	472	broad.mit.edu	37	11	108225561	108225561	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:108225561T>G	uc001pkb.1	+	60	9195	c.8810T>G	c.(8809-8811)gTg>gGg	p.V2937G	ATM_uc009yxr.1_Missense_Mutation_p.V2937G|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.V1589G	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2937	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCATGGAAGTGATGAGAAAC	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				116			56		0	0	0.014410	0	0
CCBP2	1238	broad.mit.edu	37	3	42906104	42906105	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:42906104_42906105GG>AC	uc003cme.3	+	2	288_289	c.110_111GG>AC	c.(109-111)agg>aAC	p.R37N	CCBP2_uc003cmf.3_Missense_Mutation_p.R37N|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.R37N	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	37					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ATGCTCTGCAGGAAGGATGCAG	0.515000														75			44		0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152529294	152529294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:152529294C>T	uc021zhb.1	-	122	22860	c.22637G>A	c.(22636-22638)gGa>gAa	p.G7546E	SYNE1_uc003qos.4_Missense_Mutation_p.G2070E|SYNE1_uc003qot.4_Missense_Mutation_p.G7475E|SYNE1_uc003qou.4_Missense_Mutation_p.G7546E|SYNE1_uc003qor.4_Missense_Mutation_p.G446E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7546					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGAATCACTCCCTGCCATTG	0.468000										HNSCC(10;0.0054)				21			20		0	0	0.003330	0	0
GPR98	84059	broad.mit.edu	37	5	89979591	89979591	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:89979591C>T	uc003kju.3	+	27	5949	c.5853C>T	c.(5851-5853)gtC>gtT	p.V1951V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1951			V -> I (in dbSNP:rs4916684).		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)		CTGTGTCAGTCCTCAGTGTTT	0.433000														22			21		0	0	0.012319	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:134134532G>A	uc003vrp.1	-	3	443	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000														113			125		0	0	0.014410	0	0
SHROOM2	357	broad.mit.edu	37	X	9900605	9900605	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:9900605C>T	uc004csu.1	+	5	3372	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1094					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGGCCCTTCCCAACGCCAT	0.701000														25			22		0	0	0.012319	0	0
SLC6A13	6540	broad.mit.edu	37	12	352917	352917	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:352917C>A	uc001qic.2	-	2	355	c.265G>T	c.(265-267)Gag>Tag	p.E89*	SLC6A13_uc009zdj.2_Nonsense_Mutation_p.E89*|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_5'Flank	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	89					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTGCTGTCTCCAGAAGGAAG	0.527000														21			21		7.45023e-12	7.67135e-12	0.010504	1	0
IRS4	8471	broad.mit.edu	37	X	107979255	107979255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:107979255G>A	uc004eoc.2	-	0	353	c.320C>T	c.(319-321)gCt>gTt	p.A107V		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	107	PH.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCCAGCCGAGCTGGGGCGTC	0.667000														76			34		0	0	0.004878	0	0
SYCP2	10388	broad.mit.edu	37	20	58467232	58467232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:58467232G>A	uc002yaz.3	-	22	2316	c.2177C>T	c.(2176-2178)tCg>tTg	p.S726L		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	726					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)			TAGGAGAACCGATTTAAAAGT	0.338000														38			39		0	0	0.004878	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186919842	186919842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:186919842G>A	uc001gsc.3	+	12	1523	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	PLA2G4A_uc010pos.2_Missense_Mutation_p.E380K	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	440	PLA2c.				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)	CAGTGATGATGAATCACACGA	0.388000														25			18		0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000														73			38		0	0	0.004289	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349665	36349665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:36349665C>T	uc002ocb.4	+	3	633	c.421C>T	c.(421-423)Cct>Tct	p.P141S	KIRREL2_uc002obz.4_Missense_Mutation_p.P141S|KIRREL2_uc002oca.4_Missense_Mutation_p.P91S|KIRREL2_uc002ocd.4_Missense_Mutation_p.P138S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	141	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.P141P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTGGAGTTCCTGCGAACCT	0.612000														51			40		0	0	0.007835	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024617	16024617	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:16024617C>T	uc002nbu.2	-	12	1536	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.R500R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	500					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						GCTCGGGTTTCCTGCGGGGTT	0.637000														24			15		0	0	0.002450	0	0
ASUN	55726	broad.mit.edu	37	12	27081199	27081199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:27081199G>A	uc001rhk.4	-	4	1060	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	ASUN_uc010sjk.2_Missense_Mutation_p.L74F	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	175					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CAGTCTTCAAGCATTCGCACA	0.313000														41			24		0	0	0.004656	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279510	73279510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73279510C>T	uc003tzk.2	+	1	296	c.260C>T	c.(259-261)cCc>cTc	p.P87L	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	87						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ATACAGGTCCCCGTATGGCTG	0.692000														50			64		0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175086135	175086135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:175086135C>T	uc001gkl.1	+	9	2293	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	727	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)		GCCACTGTCTCCTGGGACCCG	0.547000														98			45		0	0	0.014410	0	0
RNF169	254225	broad.mit.edu	37	11	74547756	74547756	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:74547756A>G	uc001ovl.4	+	5	2121	c.2108A>G	c.(2107-2109)aAc>aGc	p.N703S	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	703							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CGGTCCAGCAACATGGCCGGG	0.498000														37			27		0	0	0.005443	0	0
FAM59A	64762	broad.mit.edu	37	18	29848384	29848384	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29848384C>G	uc002kxl.3	-	5	2137	c.2081G>C	c.(2080-2082)gGt>gCt	p.G694A	FAM59A_uc002kxk.2_Missense_Mutation_p.G693A	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	694										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTTGGGACAACCAGAGACGCT	0.542000														68			27		0	0	0.006320	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:29012249C>T	uc003nlw.2	-	0	704	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q234Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000														85			120		0	0	0.014410	0	0
FHOD1	29109	broad.mit.edu	37	16	67264128	67264128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:67264128C>T	uc002esl.3	-	19	3167	c.3055G>A	c.(3055-3057)Gag>Aag	p.E1019K	FHOD1_uc010ced.3_Missense_Mutation_p.E826K	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1019					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.E1019Q(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGAACTTCTCTGTCTGGAGA	0.592000														13			32		0	0	0.009535	0	0
VWF	7450	broad.mit.edu	37	12	6105273	6105273	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6105273C>T	uc001qnn.1	-	34	6208	c.5958G>A	c.(5956-5958)gtG>gtA	p.V1986V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1986	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.V1986A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TATGGAGAATCACCTCCAGGT	0.537000														29			11		0	0	0.001855	0	0
SSH1	54434	broad.mit.edu	37	12	109201541	109201542	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:109201541_109201542CC>TT	uc001tnm.3	-	7	685_686	c.598_599GG>AA	c.(598-600)ggg>AAg	p.G200K	SSH1_uc001tnl.3_5'Flank|SSH1_uc010sxg.2_Missense_Mutation_p.G211K|SSH1_uc001tnn.4_Missense_Mutation_p.G200K|SSH1_uc001tno.1_Missense_Mutation_p.G104K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	200					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTACACCCCCGGGGAAGTAG	0.614000														38			18		0	0	0.004672	0	0
ASB10	136371	broad.mit.edu	37	7	150873316	150873316	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:150873316G>A	uc003wjm.1	-	4	1548	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	ASB10_uc003wjl.1_Silent_p.S391S|ASB10_uc003wjn.1_Silent_p.S414S	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	429	SOCS box.				intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCACAGCGGCTCAAATGCT	0.662000														46			16		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229401	140229401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140229401G>A	uc003lhu.2	+	0	2045	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	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_uc003lht.1_Missense_Mutation_p.V441M	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	455	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T440T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCAGGGTGTCTGTGGA	0.662000														81			47		0	0	0.014410	0	0
COL4A3	1285	broad.mit.edu	37	2	228142233	228142233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:228142233C>T	uc002vom.2	+	27	2251	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	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.	697	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)		ACCAGGAATTCCAGGAATTGG	0.408000														6			9		0	0	0.008291	0	0
CDH18	1016	broad.mit.edu	37	5	19520879	19520879	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:19520879C>G	uc003jgd.3	-	9	1933	c.1399G>C	c.(1399-1401)Gat>Cat	p.D467H	CDH18_uc011cnm.2_Missense_Mutation_p.D467H|CDH18_uc003jgc.3_Missense_Mutation_p.D467H|CDH18_uc021xwu.1_Missense_Mutation_p.D467H	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	467	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCAGCAAATCAGGATTATCT	0.373000														113			58		0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857369	9857369	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:9857369G>A	uc010uym.2	-	13	4342	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	GRIN2A_uc002czo.4_Silent_p.F1344F|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1344					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			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)	GACCTTGGGGGAAAAGGGAGC	0.537000														56			20		0	0	0.007413	0	0
TSHR	7253	broad.mit.edu	37	14	81606081	81606081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:81606081G>A	uc001xvd.1	+	8	907	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	251					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCACCTGAAGGAACTGATAGC	0.512000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							52			26		0	0	0.005443	0	0
GUSB	2990	broad.mit.edu	37	7	65441055	65441055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:65441055G>A	uc003tun.3	-	4	990	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	GUSB_uc011kdt.2_Intron|GUSB_uc010kzw.2_Missense_Mutation_p.L120F	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	287					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGCCACCAGAGGCTGACACCT	0.532000														45			45		0	0	0.014410	0	0
RIN1	9610	broad.mit.edu	37	11	66102365	66102365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:66102365C>T	uc001ohn.1	-	5	1032	c.905G>A	c.(904-906)gGc>gAc	p.G302D	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.G197D|RIN1_uc010rpa.1_Missense_Mutation_p.G197D	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	302	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AAGGCTAGGGCCACTGCCTGC	0.716000														7			3		0	0	0.004672	0	0
MED12L	116931	broad.mit.edu	37	3	151073808	151073808	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:151073808T>A	uc003eyp.3	+	16	2666	c.2537T>A	c.(2536-2538)cTa>cAa	p.L846Q	MED12L_uc011bnz.2_Missense_Mutation_p.L706Q|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.L10Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	846					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCAACGGACTAATTGACTTC	0.433000														49			35		0	0	0.004289	0	0
TRPC5	7224	broad.mit.edu	37	X	111020051	111020051	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:111020051C>T	uc004epl.1	-	10	3331	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	804					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGTCTTTTTCTTGCAGCCTA	0.493000														174			120		0	0	0.014410	0	0
POLE	5426	broad.mit.edu	37	12	133209066	133209066	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:133209066G>A	uc001uks.1	-	44	6209	c.6165C>T	c.(6163-6165)gtC>gtT	p.V2055V	POLE_uc001ukq.1_Silent_p.V265V|POLE_uc001ukr.1_Silent_p.V859V|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2055					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCATTTGCGACATAATCCT	0.522000								DNA polymerases (catalytic subunits)						84			35		0	0	0.004289	0	0
C7orf34	135927	broad.mit.edu	37	7	142636823	142636823	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:142636823G>A	uc003wca.2	+	0	221	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	35						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAAGATGGGAGCCAGACAG	0.562000														54			17		0	0	0.004990	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570766	47570767	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:47570766_47570767GG>AA	uc002pga.4	-	14	2796_2797	c.2758_2759CC>TT	c.(2758-2760)ccg>TTg	p.P920L	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	920							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGTTGGGGGCGGCCCAGACCCC	0.713000														47			20		0	0	0.004672	0	0
KCNK18	338567	broad.mit.edu	37	10	118969252	118969252	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:118969252C>T	uc010qsr.2	+	2	597	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	199						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATGAAGCTGTCCCTCAGATCA	0.532000														24			40		0	0	0.006230	0	0
SRRM1	10250	broad.mit.edu	37	1	24981485	24981485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:24981485C>T	uc001bjm.3	+	8	1404	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	SRRM1_uc010oel.2_Missense_Mutation_p.P394S|SRRM1_uc009vrh.1_Missense_Mutation_p.P355S|SRRM1_uc009vri.1_Missense_Mutation_p.P311S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	394	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTCAGCAAGTCCTCCAAGGCG	0.542000														66			45		0	0	0.009718	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961147	143961147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:143961147G>A	uc010mey.3	-	0	90	c.83C>T	c.(82-84)gCc>gTc	p.A28V	CYP11B1_uc003yxi.3_Missense_Mutation_p.A28V|CYP11B1_uc003yxj.3_Missense_Mutation_p.A28V	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	28					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GACCCGGGCGGCTCTCGTGCC	0.647000									Familial Hyperaldosteronism type I					60			47		0	0	0.013114	0	0
APLNR	187	broad.mit.edu	37	11	57003433	57003433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:57003433C>T	uc001njo.3	-	0	1495	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	349						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGGCTGTGCCCCGAAGAGTA	0.637000														45			25		0	0	0.003954	0	0
HBE1	3046	broad.mit.edu	37	11	5290845	5290845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5290845G>A	uc001mal.1	-	1	420	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.P52S	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	52					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCAGAGGGAGACGACAGG	0.478000														74			25		0	0	0.005443	0	0
NCF2	4688	broad.mit.edu	37	1	183536087	183536087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:183536087C>T	uc001gqj.4	-	8	1167	c.892G>A	c.(892-894)Gag>Aag	p.E298K	NCF2_uc010pod.2_Missense_Mutation_p.E253K|NCF2_uc010poe.2_Missense_Mutation_p.E217K|NCF2_uc001gqk.4_Missense_Mutation_p.E298K	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	298	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATCCGCAGCTCAACTGGTTCA	0.527000														29			31		0	0	0.003755	0	0
SIRPB2	284759	broad.mit.edu	37	20	1458921	1458921	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:1458921C>T	uc002wfg.2	-	2	1011	c.783G>A	c.(781-783)ctG>ctA	p.L261L	SIRPB2_uc002wfh.3_Silent_p.L163L|SIRPB2_uc010zpr.1_Silent_p.L123L	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	261						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTTCACTTTCAGGCTGGTGC	0.478000														45			27		0	0	0.004656	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203806695	203806695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:203806695G>A	uc002uzo.2	+	2	350	c.70G>A	c.(70-72)Gta>Ata	p.V24I	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.V24I|ALS2CR8_uc010zhy.1_Missense_Mutation_p.V24I|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Intron|ALS2CR8_uc010zia.1_Missense_Mutation_p.V24I|ALS2CR8_uc010zib.1_Missense_Mutation_p.V24I|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.V24I	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	24										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CAGTGCTCAAGTATTTGAGGT	0.373000														38			54		0	0	0.014410	0	0
COL19A1	1310	broad.mit.edu	37	6	70916922	70916922	+	Missense_Mutation	SNP	C	T	T	rs143391424	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:70916922C>T	uc003pfc.1	+	50	3490	c.3373C>T	c.(3373-3375)Cca>Tca	p.P1125S		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1125					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAGATGTAACCCAGAAGATTG	0.517000														70			101		0	0	0.014410	0	0
USP53	54532	broad.mit.edu	37	4	120194808	120194809	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:120194808_120194809CC>TT	uc003ics.4	+	15	3262_3263	c.2196_2197CC>TT	c.(2194-2199)aaccta>aaTTta	p.732_733NL>NL	USP53_uc003icr.4_Silent_p.732_733NL>NL|USP53_uc003icu.4_Silent_p.355_356NL>NL	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	732					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CGACAAGCAACCTAAATAAAGA	0.322000														32			5		0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	41424029	41424029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:41424029G>A	uc002yyq.1	-	29	5493	c.5041C>T	c.(5041-5043)Cgc>Tgc	p.R1681C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1681					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCGTGGAGCGATCATCTACA	0.517000														50			31		0	0	0.010818	0	0
TMEM59	9528	broad.mit.edu	37	1	54512978	54512978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:54512978C>T	uc001cwq.3	-	1	507	c.257G>A	c.(256-258)gGa>gAa	p.G86E	TMEM59_uc001cwn.3_5'Flank|TMEM59_uc001cwo.3_5'UTR|TMEM59_uc001cwp.3_Missense_Mutation_p.G86E	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	Homo sapiens transmembrane protein 59 (TMEM59), mRNA.	86						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TAAGTCAATTCCATCATCCAC	0.388000														37			27		0	0	0.007291	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692539	4692539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:4692539G>A	uc002fza.2	+	1	178	c.125G>A	c.(124-126)gGa>gAa	p.G42E	VMO1_uc002fyx.3_5'Flank|VMO1_uc010vsh.2_5'Flank|VMO1_uc010vsi.2_5'Flank|VMO1_uc002fyy.3_5'Flank|BC150535_uc002fyz.2_3'UTR	NM_001014985	NP_001014985			Homo sapiens glycolipid transfer protein domain containing 2 (GLTPD2), mRNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TCGGGCTGCGGACCCAGGGCG	0.701000														11			7		0	0	0.003080	0	0
GPR111	222611	broad.mit.edu	37	6	47650308	47650308	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:47650308C>T	uc010jzj.1	+	5	2014	c.2013C>T	c.(2011-2013)atC>atT	p.I671I	GPR111_uc003oyy.3_Silent_p.I603I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	671					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCACTGTCATCGATGACAGAT	0.493000														71			25		0	0	0.004656	0	0
CGN	57530	broad.mit.edu	37	1	151491260	151491260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:151491260G>A	uc009wmw.3	+	1	409	c.265G>A	c.(265-267)Ggg>Agg	p.G89R		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	83	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAATGACCAAGGGGCCTCAGG	0.582000														28			12		0	0	0.010729	0	0
PPARG	5468	broad.mit.edu	37	3	12458497	12458497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:12458497G>A	uc003bwx.3	+	5	1205	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	PPARG_uc003bwr.3_Missense_Mutation_p.G344S|PPARG_uc003bws.3_Missense_Mutation_p.G344S|PPARG_uc003bwu.3_Missense_Mutation_p.G344S|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	372	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CATATCCGAGGGCCAAGGCTT	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							97			62		0	0	0.014410	0	0
KCND3	3752	broad.mit.edu	37	1	112524979	112524979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:112524979G>A	uc001ebu.1	-	1	850	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	KCND3_uc001ebv.1_Missense_Mutation_p.L124F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	124						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATCTCCGGGAGGATGCCGTAG	0.612000														43			26		0	0	0.004656	0	0
HIRA	7290	broad.mit.edu	37	22	19344421	19344421	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:19344421G>A	uc002zpf.1	-	18	2608	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	HIRA_uc011agx.1_Silent_p.L662L|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.L752L|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	796	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACCAGACAGAGAGTGTGGCTG	0.642000														37			20		0	0	0.007413	0	0
CTU1	90353	broad.mit.edu	37	19	51602387	51602387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51602387G>A	uc010eop.3	-	2	583	c.518C>T	c.(517-519)gCc>gTc	p.A173V		NM_145232	NP_660275	Q7Z7A3	CTU1_HUMAN	Homo sapiens cytosolic thiouridylase subunit 1 homolog (S. pombe) (CTU1), mRNA.	173					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|tRNA binding|transferase activity	p.A173A(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4						CATGTCGTCGGCGTTGTGACC	0.756000														3			5		0	0	0.001984	0	0
NBAS	51594	broad.mit.edu	37	2	15470890	15470890	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:15470890C>T	uc002rcc.1	-	36	4206	c.4180_splice	c.e36-1	p.D1394_splice	NBAS_uc010exl.1_Splice_Site_p.D466_splice|NBAS_uc002rcd.1_Splice_Site	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1394										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTACTTCATCCTGTATTAAAG	0.403000														27			16		0	0	0.004990	0	0
CD1E	913	broad.mit.edu	37	1	158324289	158324289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:158324289G>A	uc001fse.3	+	1	474	c.181G>A	c.(181-183)Gac>Aac	p.D61N	CD1E_uc010pid.2_Missense_Mutation_p.D59N|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.D61N|CD1E_uc001fsf.3_Missense_Mutation_p.D61N|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.D61N|CD1E_uc001fsk.3_Missense_Mutation_p.D61N|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.D61N|CD1E_uc001frz.3_Missense_Mutation_p.D61N|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	61					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGGCTGGGTGACCTGCAGAC	0.557000														50			34		0	0	0.003755	0	0
CCDC51	79714	broad.mit.edu	37	3	48474207	48474207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:48474207C>T	uc003ctc.3	-	3	879	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	PLXNB1_uc003csx.2_5'Flank|CCDC51_uc021wxn.1_Missense_Mutation_p.G174R|CCDC51_uc003ctd.3_Missense_Mutation_p.G174R	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.	283						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGTGACCCAGAGTCCTGC	0.567000														48			36		0	0	0.004878	0	0
DMBT1	1755	broad.mit.edu	37	10	124361432	124361432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:124361432G>A	uc001lgk.1	+	28	3569	c.3463G>A	c.(3463-3465)Gat>Aat	p.D1155N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1145N|DMBT1_uc001lgm.1_Missense_Mutation_p.D656N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1155N|DMBT1_uc021qag.1_Missense_Mutation_p.D1145N|DMBT1_uc021qah.1_Missense_Mutation_p.D656N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1155N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1155	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.602000														60			91		0	0	0.014410	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69332449	69332449	+	Missense_Mutation	SNP	G	A	A	rs145801188		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:69332449G>A	uc003hdz.4	+	2	301	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	79	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAGAAATGAGCCAGAGAC	0.343000														248			126		0	0	0.014410	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055517	49055517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:49055517G>A	uc002pjl.3	+	0	89	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	3					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCCATGGACGGGCCCGCCGAG	0.672000														18			7		0	0	0.001984	0	0
GALNT7	51809	broad.mit.edu	37	4	174213410	174213410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:174213410G>A	uc003isz.4	+	2	822	c.739G>A	c.(739-741)Gat>Aat	p.D247N	GALNT7_uc011ckb.2_Missense_Mutation_p.D24N	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	247	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GTTAATTGACGATTTCAGTAA	0.318000														32			14		0	0	0.004007	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880315	53880315	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:53880315C>T	uc001sdn.2	-	2	808	c.537G>A	c.(535-537)ggG>ggA	p.G179G	MAP3K12_uc001sdm.2_Silent_p.G146G	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	146	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACCTCCTCCCCGTGGAAGC	0.582000														33			20		0	0	0.008871	0	0
LTBP1	4052	broad.mit.edu	37	2	33540274	33540274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:33540274G>A	uc021vft.1	+	23	3691	c.3668G>A	c.(3667-3669)gGt>gAt	p.G1223D	LTBP1_uc002rou.3_Missense_Mutation_p.G897D|LTBP1_uc002rov.3_Missense_Mutation_p.G844D|LTBP1_uc010ymz.2_Missense_Mutation_p.G897D|LTBP1_uc010yna.2_Missense_Mutation_p.G844D|LTBP1_uc010ynb.2_Missense_Mutation_p.G163D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1223	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AACACAGAGGGTTCTTTCCAT	0.403000														51			29		0	0	0.009535	0	0
DCHS2	54798	broad.mit.edu	37	4	155252864	155252864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:155252864G>A	uc003inw.2	-	9	2236	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	746	Cadherin 6.				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)		GTGCCTGCTGGACCTGCACAA	0.468000														15			10		0	0	0.006214	0	0
PTPN22	26191	broad.mit.edu	37	1	114372627	114372627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114372627G>A	uc001eds.3	-	16	2208	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	PTPN22_uc021orx.1_Missense_Mutation_p.P665L|PTPN22_uc009wgq.3_Missense_Mutation_p.P638L|PTPN22_uc021ory.1_Missense_Mutation_p.P669L|PTPN22_uc010owo.2_Missense_Mutation_p.P449L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P693L|PTPN22_uc009wgs.2_Missense_Mutation_p.P566L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	693					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		AGGAGGTGGGGGAGAAGAACG	0.363000														26			22		0	0	0.004656	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790057	87790058	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:87790057_87790058GG>AA	uc002fki.3	-	2	319_320	c.217_218CC>TT	c.(217-219)cct>TTt	p.P73F	KLHDC4_uc002fkj.3_Missense_Mutation_p.P73F|KLHDC4_uc002fkl.3_Intron|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	73										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		ATCTTTCTCAGGATGAACCGAG	0.446000														13			15		0	0	0.004672	0	0
KIAA0664	23277	broad.mit.edu	37	17	2598354	2598354	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:2598354G>A	uc002fuy.1	-	15	2618	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	KIAA0664_uc002fux.1_Silent_p.F777F|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	844							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AGCAGTTCAGGAAGTGGCTGA	0.637000														7			3		0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158653284	158653284	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:158653284C>T	uc001fst.1	-	2	466	c.267G>A	c.(265-267)ggG>ggA	p.G89G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	89					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)					TCTGATATTTCCCCTAAAGTT	0.398000														51			32		0	0	0.010818	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060667	33060668	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:33060667_33060668GG>AA	uc001bvn.3	+	3	1321_1322	c.836_837GG>AA	c.(835-837)cgg>cAA	p.R279Q	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Missense_Mutation_p.R279Q	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GATCTGCCTCGGATGCGATTCA	0.455000														28			18		0	0	0.004672	0	0
SYNE2	23224	broad.mit.edu	37	14	64484368	64484368	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:64484368G>A	uc001xgl.3	+	33	5173	c.4943G>A	c.(4942-4944)tGg>tAg	p.W1648*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.W1648*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.W1648*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1648					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAGCTTTGTGGGACAAACTT	0.338000														114			56		0	0	0.014410	0	0
TP53BP1	7158	broad.mit.edu	37	15	43713259	43713259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:43713259C>T	uc001zrs.3	-	19	4347	c.4199G>A	c.(4198-4200)cGa>cAa	p.R1400Q	TP53BP1_uc010udp.2_Missense_Mutation_p.R1400Q|TP53BP1_uc001zrq.4_Missense_Mutation_p.R1405Q|TP53BP1_uc001zrr.4_Missense_Mutation_p.R1405Q|TP53BP1_uc010udq.1_Missense_Mutation_p.R1405Q	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1400					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCGGCCCCTTCGCCCACGCCC	0.582000								Other conserved DNA damage response genes						95			49		0	0	0.014410	0	0
BCL9L	283149	broad.mit.edu	37	11	118773750	118773750	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118773750G>A	uc001pug.3	-	4	1748	c.783C>T	c.(781-783)gaC>gaT	p.D261D	BCL9L_uc009zal.3_Silent_p.D256D	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	261					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGAGGATGGAGTCGGCCCGGC	0.682000														6			8		0	0	0.003080	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090911	115090911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:115090911C>T	uc001vuv.3	+	2	1926	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	CHAMP1_uc010tko.2_Missense_Mutation_p.P532S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P532S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P532S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	532	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TGCCCTGTTTCCCGAGCCTGC	0.557000														310			112		0	0	0.014410	0	0
OR10H5	284433	broad.mit.edu	37	19	15905657	15905657	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:15905657C>A	uc010xos.2	+	0	799	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CAAAGGTCCCCAGTCTCCGGA	0.567000														43			33		1.06801e-11	1.09887e-11	0.009535	1	0
XKR7	343702	broad.mit.edu	37	20	30585092	30585092	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:30585092G>A	uc002wxe.3	+	2	1746	c.1572G>A	c.(1570-1572)cgG>cgA	p.R524R		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	524						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGTCATCCGGATTGACTTGC	0.637000														58			20		0	0	0.002780	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:20071504G>A	uc002wru.3	+	6	697	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_uc010gcw.2_Missense_Mutation_p.D149N|C20orf26_uc010zse.2_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	195								p.D195N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000														132			58		0	0	0.014410	0	0
SMARCC1	6599	broad.mit.edu	37	3	47777561	47777561	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:47777561A>G	uc003crq.2	-	4	657	c.539T>C	c.(538-540)tTg>tCg	p.L180S	SMARCC1_uc011bbd.1_Missense_Mutation_p.L71S	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	180					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTTGTTAGCCAACTTCAGATC	0.348000														43			25		0	0	0.006320	0	0
BACH2	60468	broad.mit.edu	37	6	90660443	90660444	+	Missense_Mutation	DNP	GG	AA	AA	rs144153232		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:90660443_90660444GG>AA	uc011eab.2	-	6	2255_2256	c.1381_1382CC>TT	c.(1381-1383)ccg>TTg	p.P461L	BACH2_uc003pnw.3_Missense_Mutation_p.P461L|BACH2_uc010kch.3_Missense_Mutation_p.P461L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	461						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTGGCACCGGCTCAGAGAGG	0.619000														18			29		0	0	0.004672	0	0
ACSM5	54988	broad.mit.edu	37	16	20429464	20429464	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:20429464G>A	uc002dhe.3	+	2	435	c.288G>A	c.(286-288)ggG>ggA	p.G96G	ACSM5_uc002dhd.1_Silent_p.G96G	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	96					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGGAGCTGGGGAAGCAGTCCA	0.622000														34			22		0	0	0.010504	0	0
OR8B12	219858	broad.mit.edu	37	11	124413276	124413276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:124413276G>A	uc010sam.2	-	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCCTGTGAAGGAAATGATGTT	0.438000														52			15		0	0	0.003163	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482101	76482101	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:76482101T>C	uc002fex.1	+	3	879	c.740T>C	c.(739-741)cTt>cCt	p.L247P	CNTNAP4_uc002feu.1_Missense_Mutation_p.L243P|CNTNAP4_uc002fev.1_Missense_Mutation_p.L156P|CNTNAP4_uc010chb.1_Missense_Mutation_p.L219P|CNTNAP4_uc002few.2_Missense_Mutation_p.L219P	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	244	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCTTTTTACTTATTAATTCA	0.353000														12			16		0	0	0.004007	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438557	204438557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:204438557C>T	uc001haw.3	-	2	853	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PIK3C2B_uc010pqv.2_Missense_Mutation_p.G125E|PIK3C2B_uc001hax.1_Missense_Mutation_p.G125E|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	125	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGATAGTCTCCAGACAGGGA	0.567000														23			18		0	0	0.004990	0	0
ITPA	3704	broad.mit.edu	37	20	3202495	3202495	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:3202495C>T	uc002wid.3	+	6	562	c.420C>T	c.(418-420)atC>atT	p.I140I	ITPA_uc002wie.3_Silent_p.I123I|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	140					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGGGCCGGATCGTGGCACCCA	0.592000														23			15		0	0	0.007413	0	0
KIF21B	23046	broad.mit.edu	37	1	200974769	200974769	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:200974769G>A	uc001gvs.2	-	3	818	c.501C>T	c.(499-501)acC>acT	p.T167T	KIF21B_uc009wzl.2_Silent_p.T167T|KIF21B_uc001gvr.2_Silent_p.T167T|KIF21B_uc010ppn.2_Silent_p.T167T|KIF21B_uc001gvt.1_5'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	167	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGGTGGCGGGTGTCAGGGT	0.572000														73			40		0	0	0.008740	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274415	68274415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:68274415G>A	uc001xka.2	-	4	725	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.L196F|ZFYVE26_uc010tta.2_Missense_Mutation_p.L196F	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	196					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTTCGAATGAGGTCCACCAGT	0.632000														86			62		0	0	0.014410	0	0
DIXDC1	85458	broad.mit.edu	37	11	111863713	111863713	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:111863713C>T	uc001pml.3	+	12	1551	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	DIXDC1_uc001pmm.3_Silent_p.L207L|DIXDC1_uc001pmn.3_Silent_p.L125L|DIXDC1_uc010rwq.2_Silent_p.L84L	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	419					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GGAACCGGCTCTTGGGAGAAT	0.423000														10			8		0	0	0.006214	0	0
OR52A5	390054	broad.mit.edu	37	11	5153632	5153632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5153632G>A	uc010qyx.2	-	0	241	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P81S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACATTTTGGGAAGAATGCAG	0.378000														39			22		0	0	0.014323	0	0
ABCA11P	79963	broad.mit.edu	37	4	435898	435898	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:435898A>C	uc003gaf.4	-	2	2680	c.2454T>G	c.(2452-2454)tgT>tgG	p.C818W	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.C786W|ABCA11P_uc010ibe.3_Missense_Mutation_p.C774W	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TGACTTTGCCACATTCCTTAC	0.358000														27			14		0	0	0.002450	0	0
CPXM2	119587	broad.mit.edu	37	10	125521430	125521430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:125521430C>T	uc001lhk.1	-	10	2060	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	579					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACAGTGCCCTCCTCCTTCTGG	0.662000														7			11		0	0	0.010729	0	0
CDH23	64072	broad.mit.edu	37	10	73439179	73439179	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:73439179C>T	uc001jrx.4	+	15	2172	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	CDH23_uc001jry.3_Silent_p.I594I|CDH23_uc001jrz.3_Silent_p.I594I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	596	Cadherin 6.				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						ACAACCAGATCACCTACAGCA	0.592000														6			6		0	0	0.001168	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990004	128990004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:128990004C>T	uc003kvb.1	+	13	2164	c.2164C>T	c.(2164-2166)Cca>Tca	p.P722S	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	722	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTAGAAAAACCATGTGCCTT	0.318000														55			20		0	0	0.012319	0	0
SEMA7A	8482	broad.mit.edu	37	15	74711172	74711172	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:74711172G>A	uc002axv.3	-	1	340	c.300C>T	c.(298-300)ttC>ttT	p.F100F	SEMA7A_uc010ulk.2_5'UTR|SEMA7A_uc010ull.2_Silent_p.F100F	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	100	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCCTCGGGGAAGTCAAAGA	0.622000														70			57		0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	42064773	42064773	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:42064773G>A	uc002yyq.1	-	2	923	c.471C>T	c.(469-471)gtC>gtT	p.V157V	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	157	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCATGAGACGACAGTGATGT	0.517000														58			28		0	0	0.006320	0	0
SATB1	6304	broad.mit.edu	37	3	18419810	18419810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:18419810G>A	uc003cbh.3	-	8	3162	c.1427C>T	c.(1426-1428)aCa>aTa	p.T476I	SATB1_uc003cbi.3_Missense_Mutation_p.T476I|SATB1_uc003cbj.3_Missense_Mutation_p.T476I	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	476					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AATAGTAGCTGTTTTCACCTA	0.398000														113			77		0	0	0.014410	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739710	46739710	+	Silent	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:46739710T>C	uc021vgv.1	-	0	141	c.141A>G	c.(139-141)caA>caG	p.Q47Q	ATP6V1E2_uc002ruy.3_Silent_p.Q47Q	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	47					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCGTTGGGTTTGCACGAGGC	0.458000														115			67		0	0	0.014410	0	0
ARSF	416	broad.mit.edu	37	X	3028281	3028281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:3028281C>T	uc022brz.1	+	9	1514	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ARSF_uc004cre.2_Missense_Mutation_p.P460S|ARSF_uc004crf.2_Missense_Mutation_p.P460S	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	460						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTGGATCCCCAAGGACGA	0.572000														80			41		0	0	0.014410	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678050	25678050	+	Silent	SNP	G	A	A	rs150425667		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:25678050G>A	uc003grr.3	+	12	1833	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	SLC34A2_uc003grs.3_Silent_p.P583P|SLC34A2_uc010iev.3_Silent_p.P583P	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	584					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCGTCCTGCCGAAGAAACTCC	0.622000			T	ROS1	NSCLC									111			59		0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152520169	152520169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:152520169C>T	uc021vrb.1	-	42	5685	c.5656G>A	c.(5656-5658)Gaa>Aaa	p.E1886K	NEB_uc002txu.3_Missense_Mutation_p.E1886K|NEB_uc021vrc.1_Missense_Mutation_p.E1886K|NEB_uc010fnx.3_Missense_Mutation_p.E1886K|NEB_uc021vrd.1_Missense_Mutation_p.E1886K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1886					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGGCCACTTCCTGAGACTTC	0.493000														10			24		0	0	0.014323	0	0
CNOT6	57472	broad.mit.edu	37	5	179992836	179992836	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:179992836G>T	uc003mlx.3	+	6	925	c.576G>T	c.(574-576)atG>atT	p.M192I	CNOT6_uc010jld.3_Missense_Mutation_p.M192I|CNOT6_uc010jle.3_Missense_Mutation_p.M187I	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	192					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTCTGTCATGTGCTATAATG	0.363000														58			33		6.00712e-18	6.22331e-18	0.012213	1	0
FAM113B	91523	broad.mit.edu	37	12	47629950	47629950	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:47629950C>T	uc001rpq.3	+	1	1629	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	FAM113B_uc001rpn.3_Silent_p.F368F|FAM113B_uc021qxi.1_Silent_p.F368F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	368	Pro-rich.						hydrolase activity	p.F368F(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CAGGTTTCTTCGTCGAAGACA	0.522000														83			59		0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	192972	192972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrGL000192.1:192972C>T	uc010yii.1	-	8	1432	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	2102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCCTCTCCTTCCTTCAT	0.557000														36			24		0	0	0.003330	0	0
AKAP6	9472	broad.mit.edu	37	14	33292791	33292791	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:33292791G>A	uc001wrq.3	+	12	5942	c.5772G>A	c.(5770-5772)ggG>ggA	p.G1924G		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1924					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)		GTTCACATGGGAAAGAGATTT	0.378000														45			26		0	0	0.004656	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381570	133381570	+	Silent	SNP	G	A	A	rs149503883	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:133381570G>A	uc001ukz.1	-	6	1888	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.A443A|GOLGA3_uc001ulb.3_Silent_p.A443A	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	443					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCTGAGGGCGGCCAGCTGGG	0.562000														34			18		0	0	0.006122	0	0
SGOL1	151648	broad.mit.edu	37	3	20216331	20216331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:20216331G>A	uc003cbu.3	-	5	847	c.692C>T	c.(691-693)cCa>cTa	p.P231L	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Missense_Mutation_p.P231L|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Missense_Mutation_p.P231L|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Missense_Mutation_p.P231L	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	231					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GTTTACTAGTGGGTCTAAAAA	0.388000														87			52		0	0	0.014410	0	0
SLMAP	7871	broad.mit.edu	37	3	57894811	57894811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:57894811G>A	uc003dje.1	+	16	1787	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	SLMAP_uc003djd.1_Missense_Mutation_p.E511K|SLMAP_uc003djf.1_Missense_Mutation_p.E490K|SLMAP_uc003djg.1_Missense_Mutation_p.E122K|SLMAP_uc011bez.1_Intron|SLMAP_uc011bfa.1_Missense_Mutation_p.E62K|SLMAP_uc003djh.3_Missense_Mutation_p.E21K|SLMAP_uc003dji.1_Missense_Mutation_p.E62K|SLMAP_uc011bfb.1_Missense_Mutation_p.E62K|SLMAP_uc011bfc.1_Missense_Mutation_p.E21K	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	528					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCTCTTTTGGAAGAAGAAAG	0.328000														85			35		0	0	0.006999	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717325	2717325	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:2717325G>A	uc002lwf.3	-	1	638	c.480C>T	c.(478-480)ctC>ctT	p.L160L	DIRAS1_uc021umt.1_Silent_p.L160L	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	160					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		GCTCCTGGAAGAGCTCCTTGA	0.632000														68			33		0	0	0.005524	0	0
DNTT	1791	broad.mit.edu	37	10	98088481	98088481	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:98088481G>A	uc001kmf.3	+	8	1178	c.1008_splice	c.e8-1	p.R336_splice	DNTT_uc001kmg.3_Splice_Site_p.R336_splice	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	336	Involved in ssDNA binding (By similarity).|Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TTGAAAATTAGGGGTAAGAAG	0.333000														13			31		0	0	0.013726	0	0
NRXN1	9378	broad.mit.edu	37	2	50780024	50780024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:50780024G>A	uc021vhh.1	-	7	2381	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	NRXN1_uc002rxb.4_Missense_Mutation_p.P159L|NRXN1_uc021vhg.1_Missense_Mutation_p.P527L|NRXN1_uc021vhi.1_Missense_Mutation_p.P523L|NRXN1_uc021vhj.1_Missense_Mutation_p.P483L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	487	Laminin G-like 3.				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)			GAAAGACTCTGGGGTTTCAAA	0.418000														89			35		0	0	0.012213	0	0
PIDD	55367	broad.mit.edu	37	11	803340	803340	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:803340G>A	uc001lro.2	-	2	690	c.543C>T	c.(541-543)aaC>aaT	p.N181N	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Silent_p.N35N|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Silent_p.N35N|PIDD_uc001lrk.2_Silent_p.N181N|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	181					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TCTGCAGGCGGTTGTGTGTCA	0.637000														47			35		0	0	0.005524	0	0
ARNT2	9915	broad.mit.edu	37	15	80872806	80872806	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:80872806G>A	uc002bfr.3	+	15	1834	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	ARNT2_uc010unm.2_Silent_p.T545T|ARNT2_uc002bfs.3_Silent_p.T545T	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	556					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T556M(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTTCTTCCACGGGCCAGAACA	0.522000														70			69		0	0	0.014410	0	0
C4orf17	84103	broad.mit.edu	37	4	100460485	100460485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:100460485C>T	uc003huw.3	+	6	1156	c.794C>T	c.(793-795)tCa>tTa	p.S265L	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	265										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACTGCAAAATCAAAAGTGCTG	0.458000														75			28		0	0	0.009535	0	0
MYO3B	140469	broad.mit.edu	37	2	171371479	171371479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:171371479G>A	uc002ufy.3	+	28	3562	c.3419G>A	c.(3418-3420)gGt>gAt	p.G1140D	MYO3B_uc002ufv.3_Missense_Mutation_p.G1127D|MYO3B_uc010fqb.1_Missense_Mutation_p.G1140D|MYO3B_uc002ufz.3_Missense_Mutation_p.G1113D|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1140					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCGCAGCAGGTACGAGGGGA	0.493000														12			14		0	0	0.003163	0	0
SLC24A2	25769	broad.mit.edu	37	9	19550251	19550251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:19550251C>T	uc003zoa.2	-	6	1516	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	SLC24A2_uc003zob.2_Missense_Mutation_p.E438K	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	455					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGCTGGTCCTCCTCCTCATCA	0.453000														32			34		0	0	0.005524	0	0
SIDT1	54847	broad.mit.edu	37	3	113285295	113285295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:113285295G>A	uc021xcn.1	+	1	902	c.251G>A	c.(250-252)aGt>aAt	p.S84N	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.S84N|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	84						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TATGTGAACAGTTCCTCTGAG	0.517000														87			55		0	0	0.014410	0	0
ZIC3	7547	broad.mit.edu	37	X	136649796	136649796	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:136649796G>T	uc004fak.3	+	0	1451	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	316	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GTACAAACTGGTCAACCACAT	0.602000														90			59		3.00467e-41	3.12476e-41	0.014410	1	0
MAB21L3	126868	broad.mit.edu	37	1	116666729	116666729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:116666729G>A	uc001egc.1	+	3	497	c.232G>A	c.(232-234)Ggc>Agc	p.G78S		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	78										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCCAATAAAAGGCCTGGCCGG	0.582000														68			47		0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167134768	167134768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:167134768G>A	uc010fpl.3	-	14	2707	c.2366C>T	c.(2365-2367)cCa>cTa	p.P789L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	800						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATACTCATATGGATCCATGGC	0.348000														10			22		0	0	0.014323	0	0
MLXIPL	51085	broad.mit.edu	37	7	73014012	73014012	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73014012G>A	uc003tyn.1	-	7	963	c.915C>T	c.(913-915)aaC>aaT	p.N305N	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Silent_p.N305N|MLXIPL_uc003tym.1_Silent_p.N305N|MLXIPL_uc003tyl.1_Silent_p.N305N|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.N212N|MLXIPL_uc003tyq.1_Silent_p.N47N	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	305					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGAGTTGGTAAAGA	0.607000														58			54		0	0	0.014410	0	0
MYO5C	55930	broad.mit.edu	37	15	52540959	52540959	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:52540959A>T	uc010bff.3	-	13	1846	c.1684T>A	c.(1684-1686)Ttc>Atc	p.F562I	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	562	Myosin head-like.					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)		TTCTCCAGGAAACCTTCACAT	0.368000														38			25		0	0	0.004656	0	0
GABBR1	2550	broad.mit.edu	37	6	29574771	29574771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:29574771G>A	uc003nmt.4	-	17	2456	c.2120C>T	c.(2119-2121)cCc>cTc	p.P707L	GABBR1_uc003nmp.4_Missense_Mutation_p.P590L|GABBR1_uc003nms.4_Missense_Mutation_p.P590L|GABBR1_uc003nmu.4_Missense_Mutation_p.P645L|GABBR1_uc011dlr.2_Missense_Mutation_p.P530L	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	707					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CAGCTTCCAGGGTTCCAGAGT	0.587000														74			31		0	0	0.012213	0	0
abParts	0	broad.mit.edu	37	2	90122116	90122116	+	RNA	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:90122116C>T	uc010yts.2	+	28		c.3256C>T								Parts of antibodies, mostly variable regions.																		TTACTGTCTACAGCATAATAG	0.522000														82			47		0	0	0.014410	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163455	163455	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:163455C>T	uc003jak.2	+	10	2250	c.2200C>T	c.(2200-2202)Cag>Tag	p.Q734*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	734					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGAGATACCTCAGCCCGACAG	0.562000														92			51		0	0	0.014410	0	0
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55714592C>T	uc010spi.2	+	0	209	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378000														41			24		0	0	0.014323	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168927	42168927	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:42168927C>T	uc002xkn.1	+	12	1448	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	L3MBTL1_uc010zwh.2_Silent_p.V748V|L3MBTL1_uc002xkm.3_Silent_p.V680V|L3MBTL1_uc010ggl.3_Silent_p.V685V|L3MBTL1_uc002xkl.3_Silent_p.V680V|L3MBTL1_uc002xko.3_Silent_p.V332V|L3MBTL1_uc002xkp.3_Silent_p.V68V|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	680					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W439*(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCTCGACAGTCGCCAAGTGGA	0.612000														51			19		0	0	0.014323	0	0
PRELP	5549	broad.mit.edu	37	1	203453084	203453085	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:203453084_203453085CC>TT	uc001gzs.3	+	1	972_973	c.772_773CC>TT	c.(772-774)cct>TTt	p.P258F	PRELP_uc001gzt.3_Missense_Mutation_p.P258F	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	258					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGAGACCATCCCTAACGGATAC	0.515000														84			54		0	0	0.004672	0	0
BCL2L15	440603	broad.mit.edu	37	1	114423762	114423762	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114423762C>T	uc001edw.3	-	4	647	c.475_splice	c.e4-1	p.E159_splice	LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Splice_Site_p.E84_splice|BCL2L15_uc001edy.3_Splice_Site	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	Homo sapiens BCL2-like 15 (BCL2L15), mRNA.	159					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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)		TCCAGATTTTCCTAGGGAAGA	0.418000														51			19		0	0	0.012319	0	0
POTEF	728378	broad.mit.edu	37	2	130877694	130877694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:130877694C>T	uc010fmh.2	-	2	795	c.395G>A	c.(394-396)aGg>aAg	p.R132K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	132						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GACGTGGTACCTGGGCTCCAT	0.597000														28			32		0	0	0.004878	0	0
C17orf66	256957	broad.mit.edu	37	17	34192239	34192239	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:34192239C>T	uc002hke.1	-	2	449	c.300G>A	c.(298-300)agG>agA	p.R100R	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Silent_p.R100R|C17orf66_uc010wcm.1_Silent_p.R66R	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	100							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCTCATTTTCCTCAACATCT	0.507000														31			20		0	0	0.003330	0	0
EBLN2	55096	broad.mit.edu	37	3	73111720	73111720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:73111720C>T	uc003dpj.3	+	0	911	c.488C>T	c.(487-489)cCt>cTt	p.P163L	PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN	Homo sapiens endogenous Bornavirus-like nucleoprotein 2 (EBLN2), mRNA.	163							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AGGGGTACTCCTTATGCTAGC	0.453000														38			21		0	0	0.014323	0	0
OR5J2	282775	broad.mit.edu	37	11	55944743	55944743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:55944743C>T	uc010rjb.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGATCATTTCCTACATCTTC	0.488000														74			33		0	0	0.013726	0	0
DSP	1832	broad.mit.edu	37	6	7565653	7565654	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7565653_7565654CC>TT	uc003mxp.1	+	6	1118_1119	c.839_840CC>TT	c.(838-840)tcc>tTT	p.S280F	DSP_uc003mxq.1_Missense_Mutation_p.S280F|DSP_uc021yle.1_Missense_Mutation_p.S280F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	280	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		CAGGCCACGTCCAGGGAGATCA	0.515000														65			24		0	0	0.004672	0	0
PINK1	65018	broad.mit.edu	37	1	20964371	20964371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:20964371C>T	uc001bdm.3	+	1	518	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	142					cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-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;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCCTGACCCGTTGGACAC	0.542000														21			19		0	0	0.008871	0	0
OR2T2	401992	broad.mit.edu	37	1	248616309	248616309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:248616309G>A	uc001iek.1	+	0	211	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCATCATGGATACCATCTA	0.517000														175			32		0	0	0.009718	0	0
DRD5	1816	broad.mit.edu	37	4	9784432	9784432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:9784432C>T	uc003gmb.4	+	0	1175	c.779C>T	c.(778-780)tCc>tTc	p.S260F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	260					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCAGGATTTCCTCCCTGGAG	0.627000														33			19		0	0	0.006122	0	0
HYAL4	23553	broad.mit.edu	37	7	123508985	123508985	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:123508985T>A	uc003vlc.3	+	2	1296	c.658T>A	c.(658-660)Tat>Aat	p.Y220N	HYAL4_uc011knz.2_Missense_Mutation_p.Y220N	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	220					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTATTATTTATATCCTGATTG	0.428000														79			24		0	0	0.003330	0	0
TCTE1	202500	broad.mit.edu	37	6	44253959	44253959	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:44253959G>A	uc003oxi.2	-	2	744	c.588C>T	c.(586-588)ttC>ttT	p.F196F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	196										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGCGGAAGGAACTGATCGA	0.647000														54			17		0	0	0.012319	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908476	139908476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139908476C>T	uc003lfs.2	+	28	6099	c.5945C>T	c.(5944-5946)aCt>aTt	p.T1982I	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.T1982I|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.T721I|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.T620I|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.T417I|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.T119I	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1982						cytoplasm|nucleus	RNA binding	p.T1982A(1)		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)			GTGACAAGCACTTGTAGTTCC	0.488000														164			104		0	0	0.014410	0	0
B3GAT3	26229	broad.mit.edu	37	11	62383255	62383255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:62383255G>A	uc001ntw.3	-	4	1154	c.926C>T	c.(925-927)aCt>aTt	p.T309I	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.T302I	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	309					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CTCTGTCCGAGTATGCCACAC	0.637000														23			9		0	0	0.004482	0	0
DYSF	8291	broad.mit.edu	37	2	71709086	71709086	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:71709086G>A	uc010fen.3	+	2	366	c.225G>A	c.(223-225)acG>acA	p.T75T	DYSF_uc010fei.3_Silent_p.T74T|DYSF_uc010feh.3_Silent_p.T74T|DYSF_uc002sig.4_Silent_p.T74T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.T74T|DYSF_uc010fee.3_Silent_p.T74T|DYSF_uc010fef.3_Silent_p.T74T|DYSF_uc002sie.3_Silent_p.T74T|DYSF_uc010feo.3_Silent_p.T75T|DYSF_uc010fej.3_Silent_p.T75T|DYSF_uc010fel.3_Silent_p.T75T|DYSF_uc010fem.3_Silent_p.T75T|DYSF_uc002sif.3_Silent_p.T75T|DYSF_uc010fek.3_Silent_p.T75T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	74	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGAGACGATGGGGAGGA	0.552000														29			13		0	0	0.001855	0	0
PTK6	5753	broad.mit.edu	37	20	62168489	62168489	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:62168489C>A	uc002yfg.3	-	0	219	c.179G>T	c.(178-180)gGc>gTc	p.G60V	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.G60V	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	60	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GGGCACATAGCCCTGGGCCAC	0.687000														15			8		1.12685e-05	1.15415e-05	0.004482	1	0
DTD1	92675	broad.mit.edu	37	20	18724816	18724816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:18724816G>A	uc002wrf.4	+	4	711	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	184					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						ATCAAGCAAGGAAAGAAACAC	0.483000														24			15		0	0	0.003163	0	0
AK302694	0	broad.mit.edu	37	10	30998282	30998282	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:30998282G>A	uc010qdx.1	+	7	1370	c.828G>A	c.(826-828)ggG>ggA	p.G276G						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GCTCCTCTGGGGATTTCGCAG	0.547000														17			14		0	0	0.001855	0	0
SMOC1	64093	broad.mit.edu	37	14	70459140	70459140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:70459140G>A	uc001xlt.2	+	5	815	c.533G>A	c.(532-534)gGg>gAg	p.G178E	SMOC1_uc001xls.2_Missense_Mutation_p.G178E	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	178					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.G178E(2)|p.D177N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGATGACGGGTCTAAGCCG	0.443000														24			18		0	0	0.014323	0	0
C10orf111	221060	broad.mit.edu	37	10	15138497	15138497	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:15138497C>T	uc001inw.3	-	1	601	c.327G>A	c.(325-327)caG>caA	p.Q109Q	C10orf111_uc021pnj.1_Silent_p.Q109Q|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.	109						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						CAGAAGCAACCTGCCGTCTTC	0.498000														40			31		0	0	0.008361	0	0
VPS13D	55187	broad.mit.edu	37	1	12339685	12339685	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:12339685G>T	uc001atv.3	+	19	4721	c.4580G>T	c.(4579-4581)gGa>gTa	p.G1527V	VPS13D_uc001atw.3_Missense_Mutation_p.G1527V|VPS13D_uc001atx.3_Missense_Mutation_p.G715V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1527					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGATTGAAGGAAAATTTGTC	0.328000														13			27		1.68575e-08	1.73052e-08	0.007291	1	0
POLG	5428	broad.mit.edu	37	15	89873448	89873448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:89873448G>A	uc002bns.4	-	2	1001	c.719C>T	c.(718-720)tCg>tTg	p.S240L	POLG_uc002bnr.4_Missense_Mutation_p.S240L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	240					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTCAGCCGGCGACAGCTGGCT	0.607000								DNA polymerases (catalytic subunits)						26			44		0	0	0.013114	0	0
TNR	7143	broad.mit.edu	37	1	175335019	175335019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:175335019G>A	uc001gkp.1	-	8	2390	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	TNR_uc009wwu.1_Missense_Mutation_p.A770V	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	770	Fibronectin type-III 5.				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)					ACCTGTGAAAGCATCCACAGT	0.512000														60			33		0	0	0.004289	0	0
ZNF498	221785	broad.mit.edu	37	7	99227005	99227005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:99227005C>T	uc003url.1	+	7	1324	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	ZNF498_uc003urm.1_Missense_Mutation_p.P169S|ZNF498_uc010lge.1_Missense_Mutation_p.P169S|ZNF498_uc003urn.3_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.P261S|ZNF498_uc003uro.1_Missense_Mutation_p.P117S	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CGGTGCCATCCCCCTGCCTGA	0.632000														50			23		0	0	0.014323	0	0
SEPP1	6414	broad.mit.edu	37	5	42801054	42801054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:42801054C>T	uc011cps.2	-	5	1102	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.R305Q|SEPP1_uc011cpu.2_Missense_Mutation_p.R305Q|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	305					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TATCAGATGTCGACAATGGCA	0.428000														91			36		0	0	0.009718	0	0
CCDC146	57639	broad.mit.edu	37	7	76891536	76891536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:76891536G>A	uc003uga.3	+	8	1212	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	CCDC146_uc010ldp.3_Missense_Mutation_p.R108Q	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	362										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGAGATTTTCGAAATTTAAGA	0.418000														79			25		0	0	0.003954	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925647	53925647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:53925647C>T	uc001cvq.1	+	0	576	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	174	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TACCCTGGCCCCCTAGACCTG	0.716000														8			6		0	0	0.003080	0	0
ANO2	57101	broad.mit.edu	37	12	6030214	6030214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6030214C>T	uc001qnm.2	-	2	586	c.514G>A	c.(514-516)Gac>Aac	p.D172N	ANO2_uc021qtt.1_Missense_Mutation_p.D176N	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	176						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCTCCAAGTCCTTCTCAAGC	0.597000														41			21		0	0	0.002780	0	0
GDPD2	54857	broad.mit.edu	37	X	69649817	69649817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:69649817G>A	uc011mpk.2	+	11	1572	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	GDPD2_uc010nky.2_Missense_Mutation_p.E257K|GDPD2_uc004dyh.3_Missense_Mutation_p.G404E|GDPD2_uc011mpl.2_Missense_Mutation_p.G325E|GDPD2_uc011mpm.2_Missense_Mutation_p.G325E	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	404	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CGGGCACCTGGAATGCGCCAG	0.517000														38			26		0	0	0.004656	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902704	30902705	+	Splice_Site	DNP	CC	AT	AT	rs141805823		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:30902704_30902705CC>AT	uc009yjk.1	-	25	3637	c.3568_splice	c.e25+1	p.E1190_splice	DCDC5_uc001mss.1_Splice_Site|DCDC5_uc021qfk.1_Splice_Site_p.E849_splice|DCDC5_uc009yjj.2_Splice_Site	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	413					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ATCATGCATACCTTTTGGGGTT	0.396000														17			16		0	0	0.004672	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455542	4455542	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:4455542G>A	uc002fxz.4	-	6	845	c.783C>T	c.(781-783)gaC>gaT	p.D261D	MYBBP1A_uc002fyb.4_Silent_p.D261D	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	261	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCAGCTTGCGGTCCTTCTTCA	0.612000														39			20		0	0	0.008871	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030640	10030640	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:10030640G>T	uc002wno.3	+	6	1816	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Nonsense_Mutation_p.E475*|ANKRD5_uc010gbz.3_Nonsense_Mutation_p.E286*	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	475							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCATCCCCCAGAACATCCCAT	0.453000														83			66		2.32817e-41	2.42309e-41	0.014410	1	0
ZNF630	57232	broad.mit.edu	37	X	47918541	47918541	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:47918541G>A	uc004div.4	-	4	1542	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.P416P|ZNF630_uc022bvs.1_Silent_p.P430P	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CACACTTATAGGGCTTCTCTC	0.433000														12			15		0	0	0.004007	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885506	88885506	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:88885506G>A	uc002stc.4	-	8	1805	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	501					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTGGGTTGTCGAGGAATCTGA	0.353000														175			98		0	0	0.014410	0	0
NCR1	9437	broad.mit.edu	37	19	55423543	55423543	+	Silent	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55423543T>G	uc002qib.2	+	5	728	c.690T>G	c.(688-690)acT>acG	p.T230T	NCR1_uc002qic.2_Silent_p.T229T|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Silent_p.T135T|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Silent_p.T123T	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	230					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CAGCAGACACTTGGGGCACCT	0.537000														74			32		0	0	0.006230	0	0
GRM3	2913	broad.mit.edu	37	7	86416311	86416311	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:86416311C>T	uc003uid.3	+	2	2302	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	GRM3_uc010lef.3_Silent_p.A399A|GRM3_uc010leg.3_Silent_p.A273A|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	401					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGCCATGGCCCACGCTTTGC	0.522000														94			100		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718911	140718911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140718911G>A	uc003ljk.2	+	0	558	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D125N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	125	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATAACAGATATTAACGA	0.453000														62			42		0	0	0.013114	0	0
WDR6	11180	broad.mit.edu	37	3	49049835	49049835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49049835C>T	uc003cvj.2	+	1	1096	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F	WDR6_uc011bbx.1_Missense_Mutation_p.L191F|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.L264F|WDR6_uc011bbz.1_Missense_Mutation_p.L239F	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	290					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGGTGAGATCCTCCAGGCCTT	0.587000														44			27		0	0	0.006320	0	0
TLN2	83660	broad.mit.edu	37	15	63040586	63040587	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:63040586_63040587GT>AA	uc002alb.4	+	29	4062_4063	c.4062_4063GT>AA	c.(4060-4065)ctgtgt>ctAAgt	p.C1355S	TLN2_uc002alc.4_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1355					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCATCACTCTGTGTACCCAACA	0.475000														75			48		0	0	0.004672	0	0
MED25	81857	broad.mit.edu	37	19	50335672	50335672	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:50335672C>T	uc002ppw.2	+	13	1545	c.1482_splice	c.e13+1	p.F494_splice	MED25_uc010ybe.2_Splice_Site_p.F281_splice|MED25_uc002ppx.1_Splice_Site_p.F275_splice	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	494	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAACGGCTTCGTGAGTCCAG	0.587000														11			4		0	0	0.000602	0	0
GRM4	2914	broad.mit.edu	37	6	34024435	34024435	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:34024435T>A	uc003oir.4	-	4	1417	c.1054A>T	c.(1054-1056)Acg>Tcg	p.T352S	GRM4_uc011dsn.2_Intron|GRM4_uc010jvh.3_Missense_Mutation_p.T352S|GRM4_uc010jvi.3_Missense_Mutation_p.T44S|GRM4_uc003oio.3_Missense_Mutation_p.T44S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.T212S|GRM4_uc003oiq.3_Missense_Mutation_p.T219S|GRM4_uc011dsm.2_Missense_Mutation_p.T183S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	352					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGTCCAGCGTGCGGCTGGAG	0.652000														22			7		0	0	0.004482	0	0
CGB	1082	broad.mit.edu	37	19	49526155	49526155	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:49526155G>A	uc002plv.2	-	2	890	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_000737	NP_000728	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide (CGB), mRNA.	162					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	ATTGTGGGAGGATCGGGGTGT	0.607000														18			31		0	0	0.005524	0	0
PRR14	78994	broad.mit.edu	37	16	30666289	30666289	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30666289C>A	uc002dyy.3	+	7	1256	c.998C>A	c.(997-999)tCc>tAc	p.S333Y	PRR14_uc002dyz.3_Missense_Mutation_p.S178Y|PRR14_uc002dza.3_Missense_Mutation_p.S333Y|PRR14_uc002dzb.1_Missense_Mutation_p.S147Y	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	333	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CGAAGCTACTCCTGCCCTGAT	0.677000														50			12		5.50884e-06	5.64656e-06	0.013537	1	0
SERPINA11	256394	broad.mit.edu	37	14	94912840	94912840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:94912840C>T	uc001ydd.1	-	2	805	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	249					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A248V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGTGCATTTCCTTTTGGTGC	0.527000														78			47		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28225752	28225752	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:28225752A>C	uc009xky.3	-	14	2253	c.2155T>G	c.(2155-2157)Ttg>Gtg	p.L719V	ARMC4_uc010qds.2_Missense_Mutation_p.L244V|ARMC4_uc010qdt.2_Missense_Mutation_p.L411V|ARMC4_uc001itz.3_Missense_Mutation_p.L719V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	719							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						AGACTGGCCAAGGGCTTAAGT	0.473000														81			43		0	0	0.013114	0	0
TUBB6	84617	broad.mit.edu	37	18	12325306	12325306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:12325306C>T	uc002kqw.3	+	3	553	c.518C>T	c.(517-519)cCc>cTc	p.P173L	TUBB6_uc002kqv.3_Missense_Mutation_p.P101L|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	173					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ATGCCCTCGCCCAAGGTGTCG	0.622000														94			52		0	0	0.014410	0	0
PLXDC1	57125	broad.mit.edu	37	17	37262116	37262116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:37262116C>T	uc002hrg.2	-	6	1014	c.802G>A	c.(802-804)Gat>Aat	p.D268N	LOC100131347_uc002hrf.1_Intron|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	268					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGGCACATCCGGGGATGGA	0.602000														78			40		0	0	0.009718	0	0
LIPG	9388	broad.mit.edu	37	18	47101801	47101801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:47101801G>A	uc002ldv.3	+	4	886	c.634G>A	c.(634-636)Gat>Aat	p.D212N	LIPG_uc002ldu.1_Missense_Mutation_p.D212N|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	212					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTCTCCGGACGATGCAGATTT	0.557000														49			25		0	0	0.003954	0	0
EMID1	129080	broad.mit.edu	37	22	29628340	29628340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:29628340C>T	uc003aem.3	+	7	847	c.772C>T	c.(772-774)Cct>Tct	p.P258S	EMID1_uc003aen.3_Missense_Mutation_p.P256S|EMID1_uc021wnr.1_5'Flank	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	256	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTGGCCCCCCTGGGCCCCC	0.731000														12			13		0	0	0.013537	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049201	55049201	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55049201C>T	uc010erm.2	+	1	279	c.267C>T	c.(265-267)ctC>ctT	p.L89L	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.									p.H88H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TAAGAGTACTCCTCTGTCATT	0.443000														71			36		0	0	0.008740	0	0
HERC2	8924	broad.mit.edu	37	15	28478878	28478878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:28478878G>A	uc001zbj.3	-	27	4389	c.4283C>T	c.(4282-4284)cCc>cTc	p.P1428L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1428					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1428S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGCTCGGGGGGAAACATGAT	0.453000														80			38		0	0	0.011902	0	0
WEE2	494551	broad.mit.edu	37	7	141408767	141408767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141408767C>T	uc003vwn.2	+	0	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	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.	70					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)					GACACATCTTCGGAAAAAGAC	0.517000														120			107		0	0	0.014410	0	0
AL117485	0	broad.mit.edu	37	22	18844929	18844929	+	RNA	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:18844929C>T	uc002zoe.3	+	3		c.2183C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ACGTCCATCTCGCTCATCATC	0.572000														35			8		0	0	0.004482	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253165	183253165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:183253165G>A	uc001gqc.2	-	6	771	c.539C>T	c.(538-540)gCc>gTc	p.A180V	NMNAT2_uc001gqb.2_Missense_Mutation_p.A175V|NMNAT2_uc001gqd.3_Missense_Mutation_p.A75V	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	180					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.A180V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GCCCAGATTGGCATTCTCATC	0.527000														40			28		0	0	0.012213	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389437	56389437	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:56389437G>A	uc002ivx.4	-	16	3616	c.2745C>T	c.(2743-2745)ctC>ctT	p.L915L	BZRAP1_uc010dcs.3_Silent_p.L855L|BZRAP1_uc010wnt.2_Silent_p.L915L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	915	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCCCCATTGAGGTAGATGG	0.622000														54			21		0	0	0.012319	0	0
ATP1A4	480	broad.mit.edu	37	1	160124954	160124954	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160124954C>T	uc001fve.4	+	2	806	c.327C>T	c.(325-327)tcC>tcT	p.S109S	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	109					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGCTTCTCCCTCCTACTAT	0.502000														28			26		0	0	0.003954	0	0
NLRP7	199713	broad.mit.edu	37	19	55450786	55450786	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55450786G>A	uc002qih.4	-	3	1477	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	NLRP7_uc010esk.3_Silent_p.I467I|NLRP7_uc002qig.4_Silent_p.I467I|NLRP7_uc002qii.4_Silent_p.I467I|NLRP7_uc010esl.3_Silent_p.I495I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	467	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGAGGTGGATGAAGGAGT	0.622000														35			23		0	0	0.002780	0	0
CATSPERB	79820	broad.mit.edu	37	14	92126199	92126200	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:92126199_92126200CC>TT	uc001xzs.1	-	14	1553_1554	c.1413_1414GG>AA	c.(1411-1416)aaggtt>aaAAtt	p.V472I	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	472					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTCGAGTAAACCTTTCCACGTT	0.337000														57			19		0	0	0.004672	0	0
ADCY10	55811	broad.mit.edu	37	1	167849779	167849779	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:167849779C>T	uc001ger.3	-	9	1387	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	ADCY10_uc010plj.2_Silent_p.L210L|ADCY10_uc009wvk.3_Silent_p.L271L|ADCY10_uc009wvl.3_Silent_p.L362L|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	363	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAGCACATTCCAGAGCATGAG	0.522000														51			29		0	0	0.007291	0	0
PRB3	5544	broad.mit.edu	37	12	11421055	11421055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:11421055C>T	uc001qzs.3	-	2	166	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	43	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGCG	0.572000														96			60		0	0	0.014410	0	0
C1orf106	55765	broad.mit.edu	37	1	200867496	200867496	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:200867496C>T	uc001gvo.3	+	1	265	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	C1orf106_uc010ppm.2_5'UTR	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	75										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TCCCCCCTCCCTGCTCTGTGC	0.532000														70			46		0	0	0.014410	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293278	49293278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:49293278G>A	uc001zxe.2	-	14	2308	c.2044C>T	c.(2044-2046)Ctt>Ttt	p.L682F	SECISBP2L_uc001zxd.2_Missense_Mutation_p.L637F|SECISBP2L_uc010bep.2_Missense_Mutation_p.L444F	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	682										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTTACAAAGAACCTGATTA	0.343000														29			9		0	0	0.004482	0	0
SQRDL	58472	broad.mit.edu	37	15	45965900	45965900	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:45965900C>T	uc001zvu.3	+	5	748	c.555C>T	c.(553-555)ttC>ttT	p.F185F	SQRDL_uc001zvv.3_Silent_p.F185F	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	185							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGCAGGACTTCAAAGAGGGCA	0.458000														58			42		0	0	0.007835	0	0
WDR72	256764	broad.mit.edu	37	15	53905868	53905868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:53905868C>T	uc002acj.2	-	15	2909	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	956										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTACCATTTCGTAAGCAACT	0.328000														54			43		0	0	0.010771	0	0
NBEA	26960	broad.mit.edu	37	13	35733844	35733844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:35733844G>A	uc021rid.1	+	21	4070	c.3536G>A	c.(3535-3537)gGt>gAt	p.G1179D	NBEA_uc021ric.1_Missense_Mutation_p.G1179D|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1179						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)		GTACATCTTGGTGTTAGTGAT	0.353000														15			23		0	0	0.003954	0	0
DLL4	54567	broad.mit.edu	37	15	41228768	41228768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:41228768C>T	uc001zng.2	+	8	1919	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	528					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCAGCTTCCCCTGGGTGGCC	0.667000														9			5		0	0	0.001168	0	0
CXXC5	51523	broad.mit.edu	37	5	139061000	139061000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139061000G>A	uc010jfg.1	+	1	1182	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CXXC5_uc003let.2_Missense_Mutation_p.E298K	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	298					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGTGAGGAACTCAAAAA	0.557000														114			65		0	0	0.014410	0	0
MSL2	55167	broad.mit.edu	37	3	135870726	135870726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:135870726G>A	uc003eqx.1	-	1	1730	c.997C>T	c.(997-999)Ccg>Tcg	p.P333S	MSL2_uc011bmb.1_Missense_Mutation_p.P259S|MSL2_uc021xel.1_Missense_Mutation_p.P259S	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	333					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.P333Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCTATCTTCGGAGTTGCTGCT	0.433000														66			44		0	0	0.013114	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351204	41351204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:41351204G>A	uc002opl.4	-	6	1177	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	CYP2A6_uc010ehe.1_Missense_Mutation_p.P182S	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	386					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AGCACCTTAGGGAGGAAGAAA	0.557000														66			35		0	0	0.006230	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878678	79878678	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:79878678G>A	uc010ysh.2	+	1	1	c.-4_splice	c.e1-1		CTNNA2_uc010yse.2_Splice_Site|CTNNA2_uc010ysf.2_Splice_Site|CTNNA2_uc010ysg.2_Splice_Site|MIR4264_uc021vjs.1_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.						axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTCCCATAGGGAGCATGACT	0.388000														52			27		0	0	0.007291	0	0
ANXA11	311	broad.mit.edu	37	10	81928751	81928751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:81928751C>T	uc010qlx.1	-	1	885	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	ANXA11_uc001kbq.1_Missense_Mutation_p.V179I|ANXA11_uc001kbr.1_Missense_Mutation_p.V179I|ANXA11_uc001kbs.1_Missense_Mutation_p.V179I|ANXA11_uc001kbt.1_Missense_Mutation_p.V179I|ANXA11_uc010qly.1_Missense_Mutation_p.V146I|ANXA11_uc001kbu.1_Missense_Mutation_p.V179I	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	179					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GCGGGGGTGACAGTCCCAGAC	0.662000														3			5		0	0	0.001168	0	0
ELN	2006	broad.mit.edu	37	7	73474218	73474218	+	Silent	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73474218T>C	uc003tzw.3	+	22	1526	c.1435T>C	c.(1435-1437)Tta>Cta	p.L479L	ELN_uc003tzn.3_Silent_p.L473L|ELN_uc003tzy.3_Silent_p.L449L|ELN_uc003tzz.3_Silent_p.L392L|ELN_uc003tzo.3_Silent_p.L440L|ELN_uc003tzp.3_Silent_p.L384L|ELN_uc003tzq.3_Silent_p.L337L|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Silent_p.L454L|ELN_uc003tzt.3_Silent_p.L478L|ELN_uc003tzu.3_Silent_p.L459L|ELN_uc003tzv.3_Silent_p.L444L|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.L463L|ELN_uc011kff.2_Silent_p.L473L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	502	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.G478R(1)		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)	TCTTGCAGGGTTAGTTCCTGG	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							258			87		0	0	0.014410	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83359608	83359608	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:83359608A>G	uc004eej.2	-	16	1549	c.1513T>C	c.(1513-1515)Tta>Cta	p.L505L	RPS6KA6_uc011mqt.2_Silent_p.L505L|RPS6KA6_uc011mqu.2_Silent_p.L402L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	505	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CGGTCAAGTAACTCTCCTCCT	0.328000														33			13		0	0	0.004990	0	0
TMEM156	80008	broad.mit.edu	37	4	38987956	38987956	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:38987956C>T	uc003gto.3	-	5	931	c.823_splice	c.e5+1	p.A275_splice	TMEM156_uc010ifj.3_Splice_Site_p.E275_splice	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	275						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CAGAACTTACCTGAAAGAACC	0.403000														39			18		0	0	0.007413	0	0
AGBL1	123624	broad.mit.edu	37	15	86687045	86687045	+	Silent	SNP	C	T	T	rs138356654	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:86687045C>T	uc002blz.1	+	1	173	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	31					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCCTGCCTCTCTTCCGGCTGC	0.507000														50			34		0	0	0.013726	0	0
ARID2	196528	broad.mit.edu	37	12	46285666	46285666	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:46285666C>T	uc001ros.1	+	16	5026	c.5026C>T	c.(5026-5028)Cag>Tag	p.Q1676*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1676*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q1132*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q1303*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q1010*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1676					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGCCTTTTCAGCGACAGCG	0.413000			"""N, S, F"""		hepatocellular carcinoma									114			53		0	0	0.014410	0	0
CCAR1	55749	broad.mit.edu	37	10	70547713	70547714	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:70547713_70547714CC>TT	uc001joo.3	+	21	3029_3030	c.2910_2911CC>TT	c.(2908-2913)ctccgt>ctTTgt	p.R971C	CCAR1_uc010qiz.1_Missense_Mutation_p.R956C|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	971					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAGTAGTGCTCCGTGAATCTTG	0.351000														11			18		0	0	0.004672	0	0
PER3	8863	broad.mit.edu	37	1	7844970	7844970	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:7844970A>G	uc001aop.3	+	0	257	c.33A>G	c.(31-33)agA>agG	p.R11R	PER3_uc009vmg.1_Silent_p.R11R|PER3_uc009vmh.1_Silent_p.R11R|PER3_uc001aoo.3_Silent_p.R11R|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.R11R	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCGGGAGACGGGGGGCTA	0.687000														3			9		0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21250765	21250765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:21250765G>A	uc002red.3	-	13	2130	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	668	Vitellogenin.				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)	CTTTCTTTAGGAAGGTAGTTA	0.418000														101			59		0	0	0.014410	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77220806	77220806	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:77220806G>T	uc001syk.1	+	8	1179	c.1016G>T	c.(1015-1017)tGg>tTg	p.W339L	ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	339					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGTGGTGTTTGGGCTACAGTA	0.313000														53			42		2.35958e-20	2.44637e-20	0.009718	1	0
C2CD2	25966	broad.mit.edu	37	21	43327228	43327229	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:43327228_43327229GG>AA	uc002yzw.3	-	9	1432_1433	c.1190_1191CC>TT	c.(1189-1191)ccc>cTT	p.P397L	C2CD2_uc002yzt.3_Missense_Mutation_p.P13L|C2CD2_uc002yzu.3_Missense_Mutation_p.P229L|C2CD2_uc002yzv.3_Missense_Mutation_p.P242L|C2CD2_uc002yzx.1_Missense_Mutation_p.P242L	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	397						cytosol|extracellular region|nucleus		p.P396fs*9(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CAGGAACAGGGGGAGGGATGGG	0.530000														34			14		0	0	0.004672	0	0
ATAT1	79969	broad.mit.edu	37	6	30610592	30610592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30610592C>T	uc003nqv.3	+	9	1054	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	ATAT1_uc003nqr.4_Missense_Mutation_p.R258C|ATAT1_uc003nqs.4_Missense_Mutation_p.R235C|ATAT1_uc003rdd.3_Missense_Mutation_p.R235C|ATAT1_uc003rdc.3_Missense_Mutation_p.R258C|ATAT1_uc011dmm.2_Missense_Mutation_p.R223C	NM_001031722	NP_001026892	Q5SQI0	ATAT_HUMAN	Homo sapiens alpha tubulin acetyltransferase 1 (ATAT1), transcript variant 1, mRNA.	258							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAGGGCCCCTCGCCGCGCCAC	0.607000														22			20		0	0	0.010504	0	0
CADPS	8618	broad.mit.edu	37	3	62452067	62452067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:62452067C>T	uc003dll.2	-	24	3859	c.3499G>A	c.(3499-3501)Gac>Aac	p.D1167N	CADPS_uc003dlj.1_Missense_Mutation_p.D122N|CADPS_uc003dlk.1_Missense_Mutation_p.D615N|CADPS_uc003dlm.2_Missense_Mutation_p.D1128N|CADPS_uc003dln.2_Missense_Mutation_p.D1088N|CADPS_uc021wzv.1_Missense_Mutation_p.D1158N	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1167					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTAGTTCGTCTATTTTTGAA	0.363000														21			8		0	0	0.006214	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902874	24902874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:24902874G>A	uc003sxf.3	-	8	1220	c.815C>T	c.(814-816)tCg>tTg	p.S272L	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Intron|OSBPL3_uc003sxg.3_Missense_Mutation_p.S272L|OSBPL3_uc003sxh.3_Intron|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Missense_Mutation_p.S37L|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	272					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCTCCTGTGCGATCTTTTTTC	0.458000														82			38		0	0	0.006230	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247052	26247052	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:26247052A>G	uc003nhf.3	-	0	154	c.154T>C	c.(154-156)Tat>Cat	p.Y52H		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	52					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GTCTCCTCATAAATGAGGCCC	0.572000														29			34		0	0	0.013726	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270072	1270072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:1270072G>A	uc002cks.3	+	34	6388	c.6140G>A	c.(6139-6141)aGg>aAg	p.R2047K	CACNA1H_uc002ckt.3_Missense_Mutation_p.R2041K|CACNA1H_uc002cku.3_Missense_Mutation_p.R742K|CACNA1H_uc010brj.3_Missense_Mutation_p.R758K|CACNA1H_uc002ckv.3_Missense_Mutation_p.R736K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2047					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)	ACCCCGGTGAGGCCGGTGACC	0.662000														7			3		0	0	0.004672	0	0
DGKB	1607	broad.mit.edu	37	7	14188781	14188781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:14188781C>T	uc003ssz.3	-	24	2577	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K	DGKB_uc011jxt.2_Missense_Mutation_p.R778K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	797					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTTTCTTGTCCTTTTGACGAG	0.408000														74			64		0	0	0.014410	0	0
TRMT12	55039	broad.mit.edu	37	8	125463585	125463585	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:125463585T>A	uc003yra.4	+	0	538	c.417T>A	c.(415-417)aaT>aaA	p.N139K		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	Homo sapiens tRNA methyltransferase 12 homolog (S. cerevisiae) (TRMT12), mRNA.	139					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCATGGTAATCTCTTGTTGC	0.552000														75			37		0	0	0.006230	0	0
BCHE	590	broad.mit.edu	37	3	165547927	165547927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:165547927C>T	uc003fem.4	-	1	1055	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	299					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AGAAGAATTTCTTGGGGATCT	0.408000														52			27		0	0	0.007291	0	0
FMN2	56776	broad.mit.edu	37	1	240374485	240374485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240374485G>A	uc010pye.2	+	6	4252	c.4027G>A	c.(4027-4029)Gag>Aag	p.E1343K	FMN2_uc010pyd.2_Missense_Mutation_p.E1339K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1339	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)			TGCTGTAAAGGAGAGAAAGAA	0.343000														87			32		0	0	0.012213	0	0
MYH4	4622	broad.mit.edu	37	17	10351249	10351249	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10351249C>T	uc002gmn.3	-	33	4962	c.4851G>A	c.(4849-4851)agG>agA	p.R1617R	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1617					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTCTTGATCCTCAGAGCAT	0.463000														110			64		0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32023718	32023718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32023718C>T	uc003nzl.2	-	23	8579	c.8377G>A	c.(8377-8379)Ggc>Agc	p.G2793S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2851					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						GGCTCCAGGCCCCCCACGGTG	0.672000														81			75		0	0	0.014410	0	0
FLNC	2318	broad.mit.edu	37	7	128497214	128497214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:128497214C>T	uc003vnz.4	+	45	7813	c.7604C>T	c.(7603-7605)tCg>tTg	p.S2535L	FLNC_uc003voa.4_Missense_Mutation_p.S2502L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2535	Interaction with INPPL1.			S -> F (in Ref. 4; AAF80245).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AATGCCGGCTCGGGGGCCTTG	0.607000														205			64		0	0	0.014410	0	0
SPACA3	124912	broad.mit.edu	37	17	31322664	31322664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:31322664G>A	uc002hhs.1	+	1	347	c.272G>A	c.(271-273)gGt>gAt	p.G91D	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	91					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGCTCTACGGTCGTTGTGAA	0.622000														16			19		0	0	0.007413	0	0
AK302694	0	broad.mit.edu	37	10	31001486	31001486	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:31001486G>A	uc010qdx.1	+	9	1471	c.929_splice	c.e9-1	p.G310_splice						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		TGTAACTACAGGAAAAAAATC	0.448000														29			19		0	0	0.012319	0	0
TTC38	55020	broad.mit.edu	37	22	46684422	46684422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:46684422C>T	uc003bhi.3	+	10	1095	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	TTC38_uc011aqx.2_Missense_Mutation_p.S282F	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	340							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTGATGGCATCCCTGGGTGCA	0.652000														85			52		0	0	0.014410	0	0
MPO	4353	broad.mit.edu	37	17	56357732	56357732	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:56357732C>T	uc002ivu.1	-	1	420	c.243G>A	c.(241-243)cgG>cgA	p.R81R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	81					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCACCTTTCCCGCCGCTCCT	0.647000														22			11		0	0	0.013537	0	0
FSTL5	56884	broad.mit.edu	37	4	162307420	162307420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:162307420G>A	uc003iqh.3	-	15	2459	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	FSTL5_uc003iqi.3_Missense_Mutation_p.P674S|FSTL5_uc010iqv.3_Missense_Mutation_p.P665S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	675						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGACCTGTGGGGAAACTGCT	0.502000														47			27		0	0	0.008361	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567545	140567545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140567545G>A	uc003liw.1	+	0	653	c.653G>A	c.(652-654)gGg>gAg	p.G218E		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	218	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGATGGTGGGTCTCCATCC	0.532000														66			41		0	0	0.006999	0	0
GHRH	2691	broad.mit.edu	37	20	35884814	35884814	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:35884814G>A	uc002xgr.3	-	1	190	c.171C>T	c.(169-171)atC>atT	p.I57I	GHRH_uc021wdc.1_Silent_p.I57I|GHRH_uc002xgt.3_Silent_p.I57I|GHRH_uc002xgs.3_Silent_p.I57I	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	57					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				GCCTGCTCATGATGTCCTGGA	0.597000														25			17		0	0	0.008871	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699945	47699946	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:47699945_47699946GG>AA	uc002zir.1	-	3	1664_1665	c.1628_1629CC>TT	c.(1627-1629)gcc>gTT	p.A543V		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	543					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTCCCTGCGGCCTTGCCAAG	0.540000														79			38		0	0	0.004672	0	0
MECOM	2122	broad.mit.edu	37	3	168818731	168818731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:168818731G>A	uc011bpj.1	-	11	3194	c.2791C>T	c.(2791-2793)Cca>Tca	p.P931S	MECOM_uc010hwk.1_Missense_Mutation_p.P757S|MECOM_uc003ffj.3_Missense_Mutation_p.P808S|MECOM_uc003ffi.3_Missense_Mutation_p.P743S|MECOM_uc011bpi.1_Missense_Mutation_p.P735S|MECOM_uc003ffn.3_Missense_Mutation_p.P743S|MECOM_uc003ffk.2_Missense_Mutation_p.P734S|MECOM_uc003ffl.2_Missense_Mutation_p.P894S|MECOM_uc011bpk.1_Missense_Mutation_p.P743S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCAGACCTTGGAAAAATCTTG	0.393000														51			19		0	0	0.002780	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981553	61981553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:61981553G>A	uc002yes.2	-	4	1388	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S	CHRNA4_uc002yet.1_Missense_Mutation_p.P228S|CHRNA4_uc010gke.1_Missense_Mutation_p.P333S|CHRNA4_uc002yev.1_Missense_Mutation_p.P228S|CHRNA4_uc010gkf.1_Missense_Mutation_p.P228S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	404					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACGGTGAGGGCGGGTGCAGG	0.682000														14			5		0	0	0.001984	0	0
MRPL46	26589	broad.mit.edu	37	15	89008963	89008963	+	Silent	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:89008963A>T	uc002bmj.2	-	1	295	c.270T>A	c.(268-270)cgT>cgA	p.R90R	MRPL46_uc002bmi.1_5'UTR|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	90						mitochondrion|ribosome	hydrolase activity	p.R90H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CATCCAGAGCACGAAGCTCGT	0.398000														102			45		0	0	0.014410	0	0
NUP188	23511	broad.mit.edu	37	9	131742985	131742986	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:131742985_131742986GG>AA	uc004bws.1	+	13	1392_1393	c.1370_1371GG>AA	c.(1369-1371)ggg>gAA	p.G457E		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	457					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGGTATCAGGGAAGTCCACAG	0.460000														19			31		0	0	0.004672	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295174	295174	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:295174C>T	uc004cpg.3	-	12	1920	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	PPP2R3B_uc004cpf.3_Silent_p.E153E	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	552					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGAGGGCGCCTCGAAGAAGG	0.716000														21			11		0	0	0.013537	0	0
DOCK6	57572	broad.mit.edu	37	19	11346378	11346378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:11346378C>T	uc002mqs.4	-	20	2491	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	DOCK6_uc010xlq.2_Missense_Mutation_p.R121Q|C19orf80_uc021upf.1_5'Flank|C19orf80_uc010dxw.3_5'Flank	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	817					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTCCAGGCTCCGGTGAACAAG	0.647000														13			3		0	0	0.004672	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451522	38451522	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38451522C>T	uc003jlc.2	+	19	3019	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	EGFLAM_uc003jlb.2_Silent_p.F883F|EGFLAM_uc003jle.2_Silent_p.F649F|EGFLAM_uc003jlf.2_Silent_p.F249F|EGFLAM_uc003jlg.2_Silent_p.F26F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	891	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACAGCGACTTCATTTCCTTGG	0.512000														86			64		0	0	0.014410	0	0
BCAS1	8537	broad.mit.edu	37	20	52645135	52645135	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:52645135G>A	uc002xws.2	-	3	857	c.519C>T	c.(517-519)ctC>ctT	p.L173L	BCAS1_uc010zzb.1_Silent_p.L76L|BCAS1_uc010gim.2_Silent_p.L76L|BCAS1_uc002xwt.2_Silent_p.L173L|BCAS1_uc010gil.1_Silent_p.L173L|BCAS1_uc010zzc.2_Silent_p.L76L	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	173						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCTCAGGTGGGAGAAGCGTGG	0.602000														75			54		0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	2886915	2886915	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:2886915A>T	uc022aqr.1	-	50	8171	c.7781T>A	c.(7780-7782)tTa>tAa	p.L2594*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.L1924*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.L663*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2595	Sushi 16.					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)		CCAGCCTTCTAAGTAGTAACC	0.542000														15			10		0	0	0.008291	0	0
FN1	2335	broad.mit.edu	37	2	216274369	216274369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:216274369G>A	uc002vfa.3	-	14	2482	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	FN1_uc002vfc.3_Missense_Mutation_p.S739F|FN1_uc002vfe.3_Missense_Mutation_p.S739F|FN1_uc002vff.3_Missense_Mutation_p.S739F|FN1_uc002vfg.3_Missense_Mutation_p.S739F|FN1_uc002vfh.3_Missense_Mutation_p.S739F|FN1_uc002vfi.3_Missense_Mutation_p.S739F|FN1_uc002vfj.3_Missense_Mutation_p.S739F|FN1_uc002vfb.3_Missense_Mutation_p.S739F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	739	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGACCCAGGAGACCACAAA	0.537000														18			17		0	0	0.006122	0	0
PORCN	64840	broad.mit.edu	37	X	48372657	48372657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48372657C>T	uc010nie.1	+	8	907	c.749C>T	c.(748-750)tCc>tTc	p.S250F	PORCN_uc004djr.1_Missense_Mutation_p.S245F|PORCN_uc004djs.1_Missense_Mutation_p.S239F|PORCN_uc011mlx.1_Missense_Mutation_p.S168F|PORCN_uc004dju.1_Missense_Mutation_p.S108F|PORCN_uc004djv.1_Missense_Mutation_p.S250F|PORCN_uc004djw.1_Missense_Mutation_p.S244F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	250					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.S250T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGCTGTCTCCTTCCACTTC	0.587000														73			43		0	0	0.011902	0	0
KDM2A	22992	broad.mit.edu	37	11	67020215	67020215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:67020215C>T	uc001ojw.3	+	17	3683	c.2819C>T	c.(2818-2820)gCc>gTc	p.A940V	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.A634V|KDM2A_uc010rpn.2_Missense_Mutation_p.A501V|KDM2A_uc001ojz.1_Missense_Mutation_p.A398V|KDM2A_uc001oka.3_Missense_Mutation_p.A64V|KDM2A_uc021qme.1_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGTGTAAGGCCATTGTGCCC	0.498000											OREG0021121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			14		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179583125	179583125	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:179583125C>T	uc021vsy.1	-	81	21201	c.20976G>A	c.(20974-20976)gaG>gaA	p.E6992E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E3653E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7919	Ig-like 51.						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)			GTGCATAATCCTCTATTGTGC	0.403000														24			17		0	0	0.006122	0	0
CENPC1	1060	broad.mit.edu	37	4	68406743	68406743	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:68406743C>A	uc003hdd.1	-	2	274	c.91G>T	c.(91-93)Ggc>Tgc	p.G31C	CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.G31C	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	31					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						ACATTCTGGCCTTGCTCTGTG	0.328000														11			5		0.000602214	0.000615405	0.000602	1	0
DSP	1832	broad.mit.edu	37	6	7584254	7584254	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7584254C>T	uc003mxp.1	+	23	7038	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	DSP_uc003mxq.1_Silent_p.F1654F|DSP_uc021yle.1_Silent_p.F1810F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2253	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)		TTAAGGACTTCCTCCAGGGTT	0.443000														36			49		0	0	0.013114	0	0
INPP5B	3633	broad.mit.edu	37	1	38330081	38330081	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:38330081G>A	uc001ccf.1	-	16	2074	c.2037C>T	c.(2035-2037)ctC>ctT	p.L679L	INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccg.1_Silent_p.L843L	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	923					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAATATGGGGAGAGTAGAAA	0.378000														15			6		0	0	0.001984	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458161	45458161	+	RNA	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:45458161G>A	uc001rol.3	-	0		c.1034C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAGTGGTCCCGACATTCTGGA	0.458000														14			6		0	0	0.001168	0	0
TTC35	9694	broad.mit.edu	37	8	109488126	109488126	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:109488126C>T	uc003ymw.1	+	7	560	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	175						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			CAAAAGCAGCCTTTTGTTTAG	0.294000														47			18		0	0	0.008871	0	0
NXF3	56000	broad.mit.edu	37	X	102333542	102333542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102333542C>T	uc004eju.3	-	16	1468	c.1397G>A	c.(1396-1398)gGt>gAt	p.G466D	NXF3_uc010noi.1_Silent_p.G312G	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	466	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAGAACAGAACCCTGAGACTG	0.537000														163			77		0	0	0.014410	0	0
TEX15	56154	broad.mit.edu	37	8	30703552	30703552	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:30703552G>A	uc003xil.3	-	0	2982	c.2982C>T	c.(2980-2982)tcC>tcT	p.S994S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	994										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTAGTTTTCTGGAAAGACATT	0.343000														87			64		0	0	0.014410	0	0
KIAA0922	23240	broad.mit.edu	37	4	154517466	154517466	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:154517466G>T	uc010ipp.3	+	19	2104	c.2052G>T	c.(2050-2052)ttG>ttT	p.L684F	KIAA0922_uc003inm.4_Missense_Mutation_p.L683F|KIAA0922_uc010ipq.3_Missense_Mutation_p.L452F	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	683						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGCCTTTGGAAATGAAAA	0.423000														99			37		3.66854e-30	3.81224e-30	0.007835	1	0
ITGB7	3695	broad.mit.edu	37	12	53589216	53589216	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:53589216A>G	uc009zmv.3	-	7	1174	c.1103T>C	c.(1102-1104)gTt>gCt	p.V368A	ITGB7_uc001scc.3_Missense_Mutation_p.V368A|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	368	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCTCCCCAACTGCAGACTT	0.537000														42			23		0	0	0.004656	0	0
HOXB1	3211	broad.mit.edu	37	17	46607721	46607721	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:46607721C>T	uc002ink.1	-	0	552	c.546G>A	c.(544-546)tgG>tgA	p.W182*	HOXB1_uc021tzf.1_Nonsense_Mutation_p.W182*	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	182						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAACCTTCATCCAGTCGAAGG	0.592000														25			8		0	0	0.006214	0	0
GSG1L	146395	broad.mit.edu	37	16	27974477	27974478	+	Splice_Site	DNP	CT	TG	TG			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:27974477_27974478CT>TG	uc002doz.2	-	2	482	c.397_splice	c.e2+1	p.G133_splice	GSG1L_uc010bya.1_Splice_Site_p.G133_splice	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	133						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCACACTCACCTTTCTCCGATG	0.530000														21			11		0	0	0.004672	0	0
BAG6	7917	broad.mit.edu	37	6	31607321	31607322	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:31607321_31607322GG>AA	uc003nvg.4	-	23	3572_3573	c.3258_3259CC>TT	c.(3256-3261)agccgg>agTTgg	p.R1087W	BAG6_uc003nvf.4_Missense_Mutation_p.R1081W|BAG6_uc003nvi.4_Missense_Mutation_p.R1081W|BAG6_uc003nvh.4_Missense_Mutation_p.R1081W|BAG6_uc011dnw.2_Intron|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	1087					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TCCAGGTCCCGGCTCAGGCTCT	0.658000														81			119		0	0	0.004672	0	0
POLD3	10714	broad.mit.edu	37	11	74303707	74303707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:74303707G>A	uc001ovf.1	+	0	79	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	POLD3_uc009yua.1_5'UTR	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	2					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCGCACCATGGCGGACCAGCT	0.622000														10			9		0	0	0.006214	0	0
KRT10	3858	broad.mit.edu	37	17	38975091	38975091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:38975091G>A	uc002hvi.3	-	6	1722	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y	TMEM99_uc021txc.1_5'Flank|TMEM99_uc002hvj.1_5'Flank|TMEM99_uc021txd.1_5'Flank	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	566	Gly-rich.|Ser-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis	p.H566R(1)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GAGGACTTGTGGCCTCCGCTG	0.657000														18			8		0	0	0.008291	0	0
NBEA	26960	broad.mit.edu	37	13	36220454	36220454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:36220454C>T	uc021rid.1	+	49	8210	c.7676C>T	c.(7675-7677)cCa>cTa	p.P2559L	NBEA_uc021ric.1_Missense_Mutation_p.P2556L|NBEA_uc010abi.3_Missense_Mutation_p.P1215L|NBEA_uc010tee.1_Missense_Mutation_p.P352L|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.P352L|NBEA_uc001uvd.3_Missense_Mutation_p.P137L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2559	BEACH.					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)		CTTATTGAGCCACATCCGCCT	0.443000														35			15		0	0	0.006122	0	0
SLC6A7	6534	broad.mit.edu	37	5	149585174	149585174	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149585174C>T	uc003lrr.3	+	12	2060	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	563						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GAGAAGAGGGCTCACTCTGGG	0.617000														43			25		0	0	0.005443	0	0
NME7	29922	broad.mit.edu	37	1	169293677	169293677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:169293677C>T	uc001gfu.3	-	1	303	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	NME7_uc001gft.3_5'UTR|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.R22Q	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	22	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CTCATAACGTCGAAGAAGTGA	0.378000														39			14		0	0	0.004007	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159873	170159873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:170159873G>A	uc003mas.3	+	6	1067	c.538G>A	c.(538-540)Gac>Aac	p.D180N	KCNIP1_uc003map.3_Missense_Mutation_p.D178N|KCNIP1_uc003mat.3_Missense_Mutation_p.D169N|KCNIP1_uc010jjp.3_Missense_Mutation_p.D141N|KCNIP1_uc010jjq.3_Missense_Mutation_p.D194N	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	180					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCAAAGAGGACACTCCAAG	0.498000														65			25		0	0	0.007291	0	0
KANK4	163782	broad.mit.edu	37	1	62740442	62740442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:62740442G>A	uc001dah.4	-	2	711	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	112								p.P111A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCATTACCAAGCGGTGGTGAC	0.627000														52			14		0	0	0.003954	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944161	73944161	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73944161C>T	uc003uaq.3	+	8	1581	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	GTF2IRD1_uc010lbq.3_Silent_p.I428I|GTF2IRD1_uc003uap.3_Silent_p.I396I|GTF2IRD1_uc003uar.1_Silent_p.I396I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	396						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACAAGATCCCCTTCAAGC	0.617000														31			31		0	0	0.012213	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159693	62159693	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:62159693C>T	uc001nte.4	+	6	1148	c.864C>T	c.(862-864)gcC>gcT	p.A288A	ASRGL1_uc001ntf.4_Silent_p.A288A|ASRGL1_uc001ntg.4_Silent_p.A160A|ASRGL1_uc021qkl.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	288					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGGCAGCCGCCAAGGACGGCA	0.527000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			30		0	0	0.009535	0	0
REL	5966	broad.mit.edu	37	2	61149089	61149089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:61149089C>T	uc002sam.1	+	10	1503	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	REL_uc002san.1_Missense_Mutation_p.P395S	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	427					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAATACAAACCCACTGAGTAG	0.473000			A		Hodgkin Lymphoma									49			28		0	0	0.006320	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212615	149212615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149212615C>T	uc003lrc.3	+	4	1070	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	PPARGC1B_uc003lrb.2_Missense_Mutation_p.P327S|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P288S|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P263S|PPARGC1B_uc003lre.1_Missense_Mutation_p.P306S|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P306S	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	327					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGATCCCGGCCCTGGTCCCG	0.627000														61			21		0	0	0.014323	0	0
LINGO4	339398	broad.mit.edu	37	1	151773494	151773494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:151773494G>A	uc001ezf.1	-	1	1877	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W	LINGO4_uc021oyu.1_Missense_Mutation_p.R563W	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	563						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTTGACCCGACCTTTGCCC	0.567000														102			39		0	0	0.008740	0	0
TRPC5	7224	broad.mit.edu	37	X	111195442	111195442	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:111195442C>A	uc004epl.1	-	1	1126	c.207G>T	c.(205-207)ttG>ttT	p.L69F	TRPC5_uc004epm.1_Missense_Mutation_p.L69F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	69					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTCCGGCCCAAGGGGTCCA	0.522000														87			45		1.76056e-25	1.82811e-25	0.011902	1	0
KIF19	124602	broad.mit.edu	37	17	72351339	72351340	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:72351339_72351340CC>TT	uc002jkm.4	+	19	3023_3024	c.2885_2886CC>TT	c.(2884-2886)ccc>cTT	p.P962L		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	962					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GACTCCTCACCCCTGGCTGTTC	0.649000														45			23		0	0	0.004672	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596795	142596795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:142596795G>A	uc004fbw.3	-	1	363	c.275C>T	c.(274-276)tCt>tTt	p.S92F		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	92								p.L91I(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCTTCAGATAAGTCTAC	0.433000														139			71		0	0	0.014410	0	0
GIPC3	126326	broad.mit.edu	37	19	3590080	3590080	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:3590080G>A	uc002lyd.4	+	5	858	c.831G>A	c.(829-831)caG>caA	p.Q277Q		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	277										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCGCCCAGGAGTTTGCAC	0.652000														8			6		0	0	0.003080	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983479	127983479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:127983479C>T	uc003eki.3	+	3	679	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	214						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCCAGATTTCCATCCCAACG	0.557000														96			66		0	0	0.014410	0	0
SRBD1	55133	broad.mit.edu	37	2	45829063	45829063	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:45829063G>A	uc002rus.3	-	2	316	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	80	Poly-Val.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAACAACAACGACTTCTGAGC	0.483000														126			87		0	0	0.014410	0	0
TM4SF4	7104	broad.mit.edu	37	3	149192738	149192738	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:149192738A>G	uc003exd.2	+	0	371	c.74A>G	c.(73-75)aAc>aGc	p.N25S		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	25						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCCTGGCTAACATCCTGTTA	0.507000														32			13		0	0	0.013537	0	0
NEU4	129807	broad.mit.edu	37	2	242758271	242758271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:242758271C>T	uc002wcp.2	+	3	1885	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	NEU4_uc010fzr.3_Missense_Mutation_p.S451F|NEU4_uc002wcm.3_Missense_Mutation_p.S451F|NEU4_uc002wco.2_Missense_Mutation_p.S451F|NEU4_uc002wcn.2_Missense_Mutation_p.S463F	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	451						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.S463F(2)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GATGAGATTTCCTTTTGTACA	0.652000														7			11		0	0	0.008291	0	0
AXDND1	126859	broad.mit.edu	37	1	179339203	179339203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:179339203G>A	uc001gmo.3	+	3	751	c.364G>A	c.(364-366)Gga>Aga	p.G122R	AXDND1_uc001gmn.2_5'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.G80R	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	122								p.T121I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTCCCTCACAGGAGCTGGAAG	0.438000														20			16		0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135480089	135480089	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:135480089T>G	uc004ezu.1	+	19	8525	c.8234T>G	c.(8233-8235)cTt>cGt	p.L2745R	GPR112_uc010nsb.1_Missense_Mutation_p.L2540R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2745					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)					ATATTAGCGCTTATAACATAC	0.408000														98			40		0	0	0.014410	0	0
PPM1J	333926	broad.mit.edu	37	1	113253642	113253642	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:113253642C>T	uc001ect.1	-	6	1125	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Silent_p.G160G	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	366	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-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)		TTTTGCCCTCCCCACAGACCA	0.572000														335			154		0	0	0.014410	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886394	75886394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:75886394G>A	uc003kek.3	+	7	1024	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	268					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAAAAGAGGAAAATGCAAG	0.348000														32			14		0	0	0.001855	0	0
CDH18	1016	broad.mit.edu	37	5	19838942	19838942	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:19838942T>C	uc003jgd.3	-	2	688	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E	CDH18_uc011cnm.2_Missense_Mutation_p.K52E|CDH18_uc003jgc.3_Missense_Mutation_p.K52E|CDH18_uc021xwu.1_Missense_Mutation_p.K52E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	52					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P51T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCCCCTTTTGGGACGATGA	0.418000														54			23		0	0	0.003954	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83290	83290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrGL000219.1:83290C>T	uc022brb.1	-	3	377	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ATAAAGCAGCCATTTGAGGCC	0.363000														31			8		0	0	0.004482	0	0
OR1L8	138881	broad.mit.edu	37	9	125330182	125330182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:125330182G>A	uc004bmp.1	-	0	575	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GACAAATATGGAAGAGCAGGA	0.433000														12			25		0	0	0.003330	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202411586	202411586	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:202411586T>G	uc001gya.2	+	11	1703	c.1553T>G	c.(1552-1554)gTt>gGt	p.V518G		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	518					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAATCAGCTGTTAATCTAGTG	0.448000														47			31		0	0	0.004289	0	0
NIM1	167359	broad.mit.edu	37	5	43280276	43280276	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:43280276G>A	uc003jno.3	+	3	1637	c.756G>A	c.(754-756)gtG>gtA	p.V252V		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	252	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GCATTTACGTGGATATCTGGG	0.517000														60			32		0	0	0.008361	0	0
DGCR14	8220	broad.mit.edu	37	22	19124869	19124869	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:19124869G>A	uc002zou.3	-	7	1039	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	334					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGTCCACGTAGGGCGTTTCCG	0.592000														137			70		0	0	0.014410	0	0
HRH4	59340	broad.mit.edu	37	18	22057039	22057039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:22057039G>A	uc002kvi.3	+	2	786	c.686G>A	c.(685-687)aGa>aAa	p.R229K	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.R141K	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	229						integral to membrane|plasma membrane	histamine receptor activity	p.R229S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CACTCATTCAGAGGTAGACTA	0.453000														100			44		0	0	0.010771	0	0
SLIT1	6585	broad.mit.edu	37	10	98803198	98803198	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:98803198G>A	uc001kmw.2	-	18	2178	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	SLIT1_uc009xvh.1_Silent_p.L652L	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	642					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGTAGAGCGAGAGGAGCCGGA	0.647000														28			29		0	0	0.008361	0	0
HTR4	3360	broad.mit.edu	37	5	147928256	147928256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:147928256G>A	uc021yfj.1	-	2	375	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HTR4_uc021yfg.1_Missense_Mutation_p.H110Y|HTR4_uc021yfh.1_Missense_Mutation_p.H110Y|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.H110Y|HTR4_uc011dby.1_Missense_Mutation_p.H110Y|HTR4_uc003lpn.3_Missense_Mutation_p.H110Y|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.H110Y	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGCACAGGTGAAAAATCGAT	0.493000														11			13		0	0	0.001855	0	0
TRPV6	55503	broad.mit.edu	37	7	142569731	142569731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:142569731C>T	uc003wbx.2	-	14	2136	c.1907G>A	c.(1906-1908)aGg>aAg	p.R636K	TRPV6_uc003wbw.1_Missense_Mutation_p.R422K|TRPV6_uc010lou.1_Missense_Mutation_p.R507K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	636					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGATCTTGCCTGTCTTCCAC	0.547000														66			20		0	0	0.012319	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792859	14792859	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:14792859G>A	uc001rcd.3	-	18	2231	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	698	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCATTCCATTGGAATTTTCCA	0.378000														61			30		0	0	0.003755	0	0
C15orf55	256646	broad.mit.edu	37	15	34648549	34648549	+	Silent	SNP	A	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:34648549A>G	uc010ucc.2	+	7	2722	c.2340A>G	c.(2338-2340)gtA>gtG	p.V780V	C15orf55_uc010ucd.2_Silent_p.V770V|C15orf55_uc001zif.3_Silent_p.V752V	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	752						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGAAGTGTGTAACTGAGTATC	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									51			32		0	0	0.010818	0	0
FANCM	57697	broad.mit.edu	37	14	45644608	45644608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:45644608C>T	uc001wwd.4	+	13	2750	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	FANCM_uc010anf.3_Missense_Mutation_p.S858F|FANCM_uc001wwe.4_Missense_Mutation_p.S420F|FANCM_uc010ang.3_Missense_Mutation_p.S98F	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	884					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.N883D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GACAGAAATTCCACTGTTGAA	0.269000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					73			33		0	0	0.012213	0	0
DRD5	1816	broad.mit.edu	37	4	9783859	9783859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:9783859G>A	uc003gmb.4	+	0	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	69					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTGCGGAGCCGCCACCTGCGC	0.647000														24			12		0	0	0.010729	0	0
OR10T2	128360	broad.mit.edu	37	1	158368890	158368890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:158368890G>A	uc010pih.2	-	0	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R123L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCTACATAGCGATCATATCCC	0.478000														97			41		0	0	0.006999	0	0
TIPIN	54962	broad.mit.edu	37	15	66644506	66644506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:66644506C>T	uc002apr.2	-	2	259	c.173G>A	c.(172-174)aGa>aAa	p.R58K	TIPIN_uc010ujn.1_5'Flank|TIPIN_uc010ujo.1_5'UTR	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.	58					DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TTTAACTGTTCTCTTTGGAGG	0.308000														33			12		0	0	0.004656	0	0
XAGE3	170626	broad.mit.edu	37	X	52896107	52896107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:52896107G>A	uc004dre.3	-	1	118	c.58C>T	c.(58-60)Cct>Tct	p.P20S	XAGE3_uc004drf.3_Missense_Mutation_p.P20S	NM_130776	NP_573440	Q8WTP9	GAGD4_HUMAN	Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA.	20								p.P20T(2)		kidney(1)|large_intestine(1)|lung(2)	4						ATCAGCTCAGGAGGTGGTACA	0.403000														92			52		0	0	0.014410	0	0
POLR3B	55703	broad.mit.edu	37	12	106895211	106895211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:106895211C>T	uc001tlp.3	+	25	3317	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.T974I	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	1032					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GCCGTCCTTACCAGGTAAGAG	0.443000														26			21		0	0	0.014323	0	0
GHR	2690	broad.mit.edu	37	5	42718182	42718182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:42718182C>T	uc021xxv.1	+	8	1062	c.925C>T	c.(925-927)Cca>Tca	p.P309S	GHR_uc003jmt.3_Missense_Mutation_p.P302S|GHR_uc003jmu.3_Missense_Mutation_p.P302S|GHR_uc003jmv.2_Missense_Mutation_p.P302S|GHR_uc021xxw.1_Missense_Mutation_p.P302S|GHR_uc021xxx.1_Missense_Mutation_p.P302S|GHR_uc021xxy.1_Missense_Mutation_p.P302S|GHR_uc021xxz.1_Missense_Mutation_p.P302S|GHR_uc021xya.1_Missense_Mutation_p.P302S|GHR_uc021xyb.1_Missense_Mutation_p.S293F|GHR_uc021xyc.1_Intron|GHR_uc011cpq.2_Missense_Mutation_p.P115S|GHR_uc021xyd.1_Missense_Mutation_p.P280S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	302					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCCCCCAGTTCCAGTTCCAAA	0.318000														69			32		0	0	0.008740	0	0
NKX3-1	4824	broad.mit.edu	37	8	23540212	23540212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:23540212C>T	uc011kzx.2	-	0	239	c.191G>A	c.(190-192)gGa>gAa	p.G64E	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	64					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GCTGCGTCCTCCCTCTGGCTC	0.746000														12			11		0	0	0.001855	0	0
LIMCH1	22998	broad.mit.edu	37	4	41683002	41683002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:41683002C>T	uc003gvz.4	+	24	4060	c.3643C>T	c.(3643-3645)Cca>Tca	p.P1215S	LIMCH1_uc003gwe.4_Missense_Mutation_p.P754S|LIMCH1_uc003gvu.4_Missense_Mutation_p.P831S|LIMCH1_uc003gvv.4_Missense_Mutation_p.P831S|LIMCH1_uc003gvw.4_Missense_Mutation_p.P830S|LIMCH1_uc003gvx.4_Missense_Mutation_p.P843S|LIMCH1_uc003gvy.4_Missense_Mutation_p.P659S|LIMCH1_uc003gwa.4_Missense_Mutation_p.P671S|LIMCH1_uc011byu.2_Missense_Mutation_p.P664S|LIMCH1_uc003gwc.4_Missense_Mutation_p.P676S|LIMCH1_uc003gwd.4_Missense_Mutation_p.P664S|LIMCH1_uc011byv.2_Missense_Mutation_p.P581S|LIMCH1_uc011byw.2_Missense_Mutation_p.P130S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	831					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACTGTGGTTCCATTTACTGT	0.418000														78			39		0	0	0.009718	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918881	21918881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:21918881G>A	uc001rff.3	-	2	1389	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	351						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CTGCACCGTGGAGCAGCTACT	0.478000														81			38		0	0	0.004289	0	0
GABRA3	2556	broad.mit.edu	37	X	151532974	151532974	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:151532974G>A	uc010ntk.1	-	1	309	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	23					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGTTCCAGGGAGAATATTAA	0.458000														136			66		0	0	0.014410	0	0
GSDMB	55876	broad.mit.edu	37	17	38061141	38061141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:38061141C>T	uc010cwj.3	-	10	1306	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	GSDMB_uc010cwi.3_Missense_Mutation_p.R139Q|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Missense_Mutation_p.R370Q|GSDMB_uc002hth.3_Missense_Mutation_p.R379Q|GSDMB_uc010wem.2_Missense_Mutation_p.R383Q	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	387						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ACAGAGAATTCGTGCCTCAGG	0.532000														57			26		0	0	0.003330	0	0
NRIP2	83714	broad.mit.edu	37	12	2943930	2943930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:2943930G>A	uc001qlc.3	-	0	292	c.220C>T	c.(220-222)Cga>Tga	p.R74*	NRIP2_uc010sed.1_Nonsense_Mutation_p.R74*|LOC100507424_uc021qtc.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	74					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTCGGTCTCGAAGCTGTGCC	0.672000														151			83		0	0	0.014410	0	0
PTPRB	5787	broad.mit.edu	37	12	70983782	70983782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:70983782C>T	uc001swb.4	-	5	1388	c.1358G>A	c.(1357-1359)gGa>gAa	p.G453E	PTPRB_uc010sto.2_Missense_Mutation_p.G453E|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Missense_Mutation_p.G671E|PTPRB_uc001swa.4_Missense_Mutation_p.G671E|PTPRB_uc001swd.4_Missense_Mutation_p.G670E|PTPRB_uc009zrr.2_Missense_Mutation_p.G550E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	453	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S452I(1)|p.S452R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAAATTTCCACTCTCAAC	0.453000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			57		0	0	0.014410	0	0
TCF3	6929	broad.mit.edu	37	19	1615702	1615702	+	Silent	SNP	G	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:1615702G>T	uc002ltr.3	-	16	1638	c.1569C>A	c.(1567-1569)gcC>gcA	p.A523A	TCF3_uc002ltn.3_5'UTR|TCF3_uc002lto.3_Silent_p.A284A|TCF3_uc002ltt.4_Silent_p.A523A|TCF3_uc002ltq.3_Silent_p.A472A|TCF3_uc002lts.1_Silent_p.A439A	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	523					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGGCCCGGGGGGCCTTCAGCT	0.682000			T	"""PBX1, HLF, TFPT"""	pre B-ALL									49			32		4.65686e-17	4.8134e-17	0.003755	1	0
NAT10	55226	broad.mit.edu	37	11	34152954	34152954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:34152954C>T	uc001mvk.3	+	13	1640	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	NAT10_uc010ren.2_Nonsense_Mutation_p.Q394*	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	466						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGTTTCCCTCCAGGAGTCAAT	0.473000														43			38		0	0	0.006230	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033702	52033702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52033702C>T	uc002pwy.3	-	3	951	c.743G>A	c.(742-744)gGa>gAa	p.G248E	SIGLEC6_uc002pwz.3_Intron|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G259E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G248E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G237E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G237E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G201E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	248	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCGCTGTTTCCTTGGAAGAT	0.572000														35			17		0	0	0.006122	0	0
KCNQ1	3784	broad.mit.edu	37	11	2790146	2790146	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:2790146C>T	uc001lwn.3	+	11	1695	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	KCNQ1_uc009ydp.1_Silent_p.F313F|KCNQ1_uc001lwo.3_Silent_p.F402F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	529					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGAAGAAATTCCAGGTAAGCC	0.582000														43			15		0	0	0.006122	0	0
DAB2	1601	broad.mit.edu	37	5	39382768	39382768	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:39382768G>A	uc003jlx.3	-	9	1824	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	DAB2_uc003jlw.3_Silent_p.I410I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	431					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTGGAGGTGGGATAATGGCTA	0.488000														63			34		0	0	0.010818	0	0
TIAM2	26230	broad.mit.edu	37	6	155451257	155451258	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:155451257_155451258GG>AA	uc003qqb.3	+	5	2173_2174	c.900_901GG>AA	c.(898-903)cgggaa>cgAAaa	p.E301K	TIAM2_uc003qqe.3_Missense_Mutation_p.E301K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	301					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.E301Q(2)|p.R300W(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTCCCTCCGGGAACTGTACAA	0.594000														12			28		0	0	0.004672	0	0
GPR114	221188	broad.mit.edu	37	16	57597802	57597803	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:57597802_57597803CC>TT	uc002ely.3	+	4	863_864	c.340_341CC>TT	c.(340-342)ccc>TTc	p.P114F	GPR114_uc002elx.4_Missense_Mutation_p.P114F|GPR114_uc010vhr.2_Missense_Mutation_p.P114F	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	114					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P114P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CATGCAGTTCCCCGCCGAGCTG	0.619000														21			28		0	0	0.004672	0	0
PAN2	9924	broad.mit.edu	37	12	56726705	56726705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:56726705C>T	uc001skx.3	-	1	551	c.174G>A	c.(172-174)atG>atA	p.M58I	PAN2_uc001sky.3_Missense_Mutation_p.M58I|PAN2_uc001skz.3_Missense_Mutation_p.M58I	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	58					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGACACCTTCCATTATGTGCA	0.557000														68			37		0	0	0.003755	0	0
PKMYT1	9088	broad.mit.edu	37	16	3025725	3025725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:3025725G>A	uc002csn.3	-	3	976	c.467C>T	c.(466-468)gCc>gTc	p.A156V	PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_Missense_Mutation_p.A156V|PKMYT1_uc002cso.3_Missense_Mutation_p.A87V|PKMYT1_uc002csq.3_Missense_Mutation_p.A147V|PKMYT1_uc010bsy.1_Missense_Mutation_p.A147V	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA.	156	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCACCTCGGCCAACTTGCG	0.682000														26			19		0	0	0.007413	0	0
GHRHR	2692	broad.mit.edu	37	7	31013753	31013753	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:31013753G>A	uc003tbx.3	+	7	799	c.751_splice	c.e7+1	p.G251_splice	GHRHR_uc003tby.3_Splice_Site_p.G187_splice|GHRHR_uc003tbz.3_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	251					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CGCTGGCTGGGGTGAGCACTG	0.627000														80			21		0	0	0.014323	0	0
DAB2	1601	broad.mit.edu	37	5	39382834	39382834	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:39382834C>T	uc003jlx.3	-	9	1758	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	DAB2_uc003jlw.3_Silent_p.Q388Q	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	409					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTACGCCATTCTGTATGGACA	0.498000														58			42		0	0	0.013114	0	0
OR56A4	120793	broad.mit.edu	37	11	6023742	6023742	+	Missense_Mutation	SNP	G	A	A	rs138873327		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:6023742G>A	uc010qzv.2	-	0	637	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P213S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGAACAGGAAGAGAAACA	0.483000														37			15		0	0	0.002450	0	0
EFNB1	1947	broad.mit.edu	37	X	68059536	68059536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:68059536G>A	uc004dxe.2	+	2	1216	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	EFNB1_uc004dxd.4_Missense_Mutation_p.E146K	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	146					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGAGGGGCTGGAAAACCGGGA	0.562000														20			16		0	0	0.008871	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128848751	128848751	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:128848751T>C	uc009zcp.3	-	17	1994	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	ARHGAP32_uc009zcq.2_Missense_Mutation_p.N625S|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.N316S	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	665					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTCCCCAAGTTGAAAAAGGA	0.428000														47			29		0	0	0.007291	0	0
GZMH	2999	broad.mit.edu	37	14	25075950	25075950	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:25075950C>T	uc001wpr.1	-	4	645	c.600G>A	c.(598-600)ggG>ggA	p.G200G	GZMH_uc010aly.1_Silent_p.G114G|GZMH_uc010alz.1_Missense_Mutation_p.G69E	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	200	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CCCCGGAGTCCCCCTGTGAAC	0.532000														49			23		0	0	0.004656	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879381	3879381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:3879381G>A	uc002kmf.3	-	3	1215	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	DLGAP1_uc010wyz.2_Missense_Mutation_p.R230C|DLGAP1_uc002kmk.2_Missense_Mutation_p.R230C|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	230					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGCCGAGCGGTCGGGGCAC	0.652000														82			45		0	0	0.013114	0	0
DGKQ	1609	broad.mit.edu	37	4	960963	960963	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:960963G>A	uc003gbw.3	-	8	1248	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	DGKQ_uc010ibn.3_Silent_p.L392L	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	392					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGGCAGAGCCCGGATG	0.716000														11			4		0	0	0.000602	0	0
IL17RD	54756	broad.mit.edu	37	3	57132039	57132039	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:57132039G>A	uc003dil.3	-	11	1781	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	IL17RD_uc003dik.3_Silent_p.F540F|IL17RD_uc010hna.3_Silent_p.F420F|IL17RD_uc011bex.1_Silent_p.F420F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	564						Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.F420F(1)		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)		GGAAGGGAACGAACTGCTTTT	0.527000														22			16		0	0	0.004990	0	0
CAPN9	10753	broad.mit.edu	37	1	230928633	230928633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:230928633C>T	uc001htz.1	+	16	1942	c.1829C>T	c.(1828-1830)aCc>aTc	p.T610I	CAPN9_uc009xfg.1_Missense_Mutation_p.T547I|CAPN9_uc001hua.1_Missense_Mutation_p.T584I	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	610	Domain IV.|EF-hand 3.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AAGTCCGGCACCATGTCTACC	0.522000														127			61		0	0	0.014410	0	0
FCHSD1	89848	broad.mit.edu	37	5	141023974	141023974	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:141023974G>A	uc003llk.3	-	16	1725	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	FCHSD1_uc010jgg.3_Silent_p.T241T|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	558	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTCTGTCCGGTGTAGCTGT	0.627000														17			8		0	0	0.004482	0	0
GSG1L	146395	broad.mit.edu	37	16	27802769	27802769	+	Silent	SNP	C	T	T	rs139721269		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:27802769C>T	uc002doz.2	-	6	1003	c.918G>A	c.(916-918)gcG>gcA	p.A306A	GSG1L_uc010bya.1_Silent_p.A255A|GSG1L_uc010bxz.1_Silent_p.A169A|GSG1L_uc002doy.2_Silent_p.A151A	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	306						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCCAGGAATCCGCCATGTGTG	0.647000														23			13		0	0	0.002450	0	0
EDAR	10913	broad.mit.edu	37	2	109513555	109513555	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:109513555C>T	uc010fjn.3	-	11	1798	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	EDAR_uc010yws.2_Silent_p.R417R|EDAR_uc002teq.4_Silent_p.R385R	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	385	Death.				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAATCTCATCCCTCTTCAGGC	0.562000														8			20		0	0	0.012319	0	0
abParts	0	broad.mit.edu	37	14	107178915	107178915	+	RNA	SNP	G	A	A	rs117736733	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:107178915G>A	uc021ser.1	-	37		c.2423C>T								Parts of antibodies, mostly variable regions.																		GAGATGGTGAGCCTGGTCTTC	0.517000														137			49		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9054252G>A	uc002mkp.3	-	3	31574	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10459	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						ACTGGCAGGCGAAGTGGATGT	0.448000														11			4		0	0	0.009096	0	0
KRT34	3885	broad.mit.edu	37	17	39537454	39537454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:39537454C>T	uc002hwm.3	-	2	580	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	190	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.T189T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGGACTGCTCCGTCTGGTAC	0.542000														51			30		0	0	0.008361	0	0
GAD2	2572	broad.mit.edu	37	10	26575418	26575418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:26575418G>A	uc001isp.2	+	12	1884	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	GAD2_uc001isq.2_Missense_Mutation_p.A461T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	461					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GATGTGGAGGGCAAAGGTGAG	0.408000														33			16		0	0	0.007413	0	0
MYH4	4622	broad.mit.edu	37	17	10356486	10356486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10356486C>T	uc002gmn.3	-	23	3205	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1032					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTTGCTGTTCTAGCTTGGTT	0.463000														196			143		0	0	0.014410	0	0
BCORL1	63035	broad.mit.edu	37	X	129173184	129173184	+	Silent	SNP	C	T	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:129173184C>T	uc022cdu.1	+	8	4589	c.4545C>T	c.(4543-4545)ccC>ccT	p.P1515P	BCORL1_uc004evc.2_Silent_p.P351P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1515					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGCCGATCCCACACTGGCTA	0.557000														52			17		0	0	0.006122	0	0
U2SURP	23350	broad.mit.edu	37	3	142740370	142740370	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:142740370T>G	uc003evh.1	+	9	924	c.825T>G	c.(823-825)aaT>aaG	p.N275K	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.N275K|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.N274K	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	275	RRM.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GCACTACTAATTTATACCTTG	0.328000														33			22		0	0	0.005443	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192469	132192469	+	Silent	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:132192469G>A	uc003vra.4	-	1	1213	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PLXNA4_uc003vrc.2_Silent_p.V328V|PLXNA4_uc003vrb.3_Silent_p.V328V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	328	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCTGGATGGACTCCAAGGG	0.592000														29			48		0	0	0.014410	0	0
BCOR	54880	broad.mit.edu	37	X	39923709	39923709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:39923709G>A	uc004den.4	-	6	3674	c.3382C>T	c.(3382-3384)Ccc>Tcc	p.P1128S	BCOR_uc004dep.4_Missense_Mutation_p.P1128S|BCOR_uc004deo.4_Missense_Mutation_p.P1110S|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Missense_Mutation_p.P1128S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1128					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGAGGGTGGGGCTGTGAGGC	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							60			18		0	0	0.006122	0	0
MALL	7851	broad.mit.edu	37	2	110873312	110873312	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:110873312delC	uc002tfk.3	-	0	832	c.58delG	c.(58-60)gtcfs	p.V20fs	MALL_uc010fju.3_Non-coding_Transcript	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	20					cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		AACAGCGCGACCCCCGAGGGC	0.746													---	4	---	---	2	---					
HDAC4	9759	broad.mit.edu	37	2	240036880	240036881	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:240036880_240036881delCC	uc002vyk.4	-	12	2436_2437	c.1644_1645delGG	c.(1642-1647)aaggagfs	p.K548fs	HDAC4_uc010fyz.1_Frame_Shift_Del_p.K543fs|HDAC4_uc010zoa.1_Frame_Shift_Del_p.K548fs|HDAC4_uc010fza.2_Frame_Shift_Del_p.K553fs|HDAC4_uc010fyy.3_Frame_Shift_Del_p.K505fs|HDAC4_uc010znz.1_Frame_Shift_Del_p.K431fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	548					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTGCGCCTCCTTCTGCCCCG	0.713													---	37	---	---	47	---					
SCAP	22937	broad.mit.edu	37	3	47461107	47461110	+	Frame_Shift_Del	DEL	TCTG	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:47461107_47461110delTCTG	uc003crh.1	-	12	1903_1906	c.1648_1651delCAGA	c.(1648-1653)cagagcfs	p.Q550fs	SCAP_uc011baz.1_Frame_Shift_Del_p.Q295fs|SCAP_uc003crg.2_Frame_Shift_Del_p.Q158fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	550					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAATGGGCTCTGTTCCGTCACC	0.652													---	59	---	---	19	---					
UVSSA	57654	broad.mit.edu	37	4	1373970	1373970	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:1373970delT	uc003gde.4	+	10	2151	c.1704delT	c.(1702-1704)cgtfs	p.R568fs	UVSSA_uc010ibv.3_Frame_Shift_Del_p.R119fs	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	568																	ACTGGTGCCGTGCCCCGAGGC	0.677													---	33	---	---	13	---					
MLF1IP	79682	broad.mit.edu	37	4	185655201	185655202	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:185655201_185655202insC	uc003iwq.3	-	0	85_86	c.15_16insG	c.(13-18)gggcggfs	p.G5fs	MLF1IP_uc003iwr.1_Frame_Shift_Ins_p.G5fs	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	5					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		ggccgccgccgcccccgcgggg	0.738													---	3	---	---	3	---					
HIST1H1E	3008	broad.mit.edu	37	6	26156687	26156687	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:26156687delG	uc003ngq.3	+	0	129	c.69delG	c.(67-69)aagfs	p.K23fs	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	23					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGAAGAAGAAGGCCCGCAAGT	0.652													---	135	---	---	37	---					
ASIC3	9311	broad.mit.edu	37	7	150748929	150748929	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:150748929delA	uc003wio.2	+	6	1615	c.1247delA	c.(1246-1248)gagfs	p.E416fs	ASIC3_uc003win.2_Frame_Shift_Del_p.E416fs|ASIC3_uc003wip.2_Frame_Shift_Del_p.E416fs|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.	416					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										ATCTTCTTTGAGGCCCTCAAC	0.612													---	114	---	---	31	---					
ARID2	196528	broad.mit.edu	37	12	46245312	46245312	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:46245312delC	uc001ros.1	+	14	3406	c.3406delC	c.(3406-3408)cccfs	p.P1136fs	ARID2_uc001ror.3_Frame_Shift_Del_p.P1136fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.P592fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.P763fs|ARID2_uc001rou.1_Frame_Shift_Del_p.P470fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1136					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCAATGCCACCCTCAGGGGG	0.507			"""N, S, F"""		hepatocellular carcinoma								---	98	---	---	47	---					
MYH7	4625	broad.mit.edu	37	14	23901706	23901706	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:23901706delT	uc001wjx.3	-	5	618	c.512delA	c.(511-513)aacfs	p.N171fs		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	171	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATGGACTGGTTTTCTCTGTC	0.597													---	51	---	---	36	---					
ZNF224	7767	broad.mit.edu	37	19	44612231	44612231	+	Frame_Shift_Del	DEL	A	-	-	rs3746319	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:44612231delA	uc002oyh.2	+	5	2235	c.1918delA	c.(1918-1920)aaafs	p.K640fs	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	640			K -> E (in dbSNP:rs3746319).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TTCATTCTCTAAAGTGCAAGA	0.458													---	71	---	---	27	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	-	-	rs78710112	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:29628226delG	uc010ztl.1	+	3	171	c.139_splice	c.e3-1	p.G47_splice	FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Splice_Site					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													---	248	---	---	10	---					
ARHGAP6	395	broad.mit.edu	37	X	11162261	11162288	+	Frame_Shift_Del	DEL	TTGTTGTCATAAGGGGAGATGTCTCCGC	-	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:11162261_11162288delTTGTTGTCATAAGGGGAGATGTCTCCGC	uc004cup.1	-	10	2861_2888	c.1988_2015delGCGGAGACATCTCCCCTTATGACAACAA	c.(1987-2016)agcggagacatctccccttatgacaacaacfs	p.S663fs	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Frame_Shift_Del_p.S663fs|ARHGAP6_uc004cum.1_Frame_Shift_Del_p.S460fs|ARHGAP6_uc004cun.1_Frame_Shift_Del_p.S483fs|ARHGAP6_uc010neb.1_Frame_Shift_Del_p.S485fs|ARHGAP6_uc011mif.1_3'UTR	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	663					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACTGGGGAGTTGTTGTCATAAGGGGAGATGTCTCCGCTGGAGGCCTT	0.566											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	103	---	---	14	---