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
NDST4	64579	broad.mit.edu	37	4	115856487	115856487	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:115856487G>A	uc003ibu.3	-	5	2090	c.1411C>T	c.(1411-1413)Ctc>Ttc	p.L471F	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	471	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTCGAGGGAGGACCTGAGTA	0.398000														29			5		0	0	0.000602	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482058	140482058	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140482058G>A	uc003lio.3	+	0	1825	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	609	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTCAAGGCCACGGAGCC	0.716000														40			66		0	0	0.014410	0	0
ZNF548	147694	broad.mit.edu	37	19	57910193	57910193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:57910193C>T	uc002qon.3	+	3	824	c.574C>T	c.(574-576)Cca>Tca	p.P192S	ZNF548_uc002qom.3_Missense_Mutation_p.P180S|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGAGTGGAAGCCATACAGGGA	0.498000														53			13		0	0	0.013537	0	0
SGSM1	129049	broad.mit.edu	37	22	25264409	25264409	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:25264409C>T	uc003abg.2	+	10	1218	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	SGSM1_uc010guu.1_Missense_Mutation_p.P354L|SGSM1_uc003abh.2_Missense_Mutation_p.P354L|SGSM1_uc003abj.2_Missense_Mutation_p.P354L|SGSM1_uc003abi.1_Missense_Mutation_p.P329L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	354						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTCCGCTTCCCCAAGGGCGGG	0.657000														46			19		0	0	0.007413	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285024	42285024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:42285024C>T	uc021sjp.1	-	12	1381	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.E85K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	449	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CGGAGCTCCTCCTGGAATTTG	0.582000														40			11		0	0	0.001855	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749489	139749490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139749489_139749490GG>AA	uc004cjs.3	+	9	1174_1175	c.1124_1125GG>AA	c.(1123-1125)cgg>cAA	p.R375Q	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	375	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		gTCCTGCTGCGGAGGCGCCGAG	0.683000														3			5		0	0	0.004672	0	0
PLVAP	83483	broad.mit.edu	37	19	17471340	17471340	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:17471340G>A	uc002ngk.1	-	4	1359	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	440						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTTACCTGGATGGGGCTAC	0.587000														57			11		0	0	0.002450	0	0
RYR3	6263	broad.mit.edu	37	15	34113767	34113767	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:34113767C>T	uc001zhi.3	+	79	11029	c.10959C>T	c.(10957-10959)atC>atT	p.I3653I	RYR3_uc010bar.3_Silent_p.I3648I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3653					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCTGGGGATCGCCATTCTGA	0.542000														32			31		0	0	0.006230	0	0
STAB2	55576	broad.mit.edu	37	12	104071278	104071278	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:104071278G>A	uc001tjw.3	+	24	2880	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	898	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCGTGTGTCAGCAGGGTTGGA	0.562000														73			35		0	0	0.004289	0	0
RNF219	79596	broad.mit.edu	37	13	79190530	79190530	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:79190530A>C	uc001vkw.1	-	5	1425	c.1366T>G	c.(1366-1368)Tca>Gca	p.S456A	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S266A	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	456	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAACATTCTGATTTCTTTTCA	0.338000														19			8		0	0	0.003080	0	0
CACNA1B	774	broad.mit.edu	37	9	140846797	140846797	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:140846797C>T	uc004cog.3	+	6	1183	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	CACNA1B_uc022bqn.1_Silent_p.F346F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	346					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCTCCTTCTTCATGCTCAACC	0.587000														17			19		0	0	0.014323	0	0
AOC2	314	broad.mit.edu	37	17	40997941	40997941	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:40997941C>T	uc002ibu.3	+	0	1333	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	AOC2_uc002ibt.3_Missense_Mutation_p.P433L	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	433					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			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)		CAGGGACTGCCCCTTCGAAGG	0.517000														33			15		0	0	0.002450	0	0
BTAF1	9044	broad.mit.edu	37	10	93773779	93773779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:93773779C>T	uc001khr.3	+	31	4675	c.4577C>T	c.(4576-4578)cCt>cTt	p.P1526L		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.	1526					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)				ACTCTTAGTCCTCTCCAGGTT	0.368000														8			67		0	0	0.014410	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042232	86042232	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:86042232C>T	uc003ycw.3	+	10	1913	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Nonsense_Mutation_p.R476*|LRRCC1_uc010maa.2_Nonsense_Mutation_p.R270*|LRRCC1_uc003ycy.3_Nonsense_Mutation_p.R549*	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	569					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCCCTTCATCGAGAAAGAGA	0.368000														47			20		0	0	0.010504	0	0
STX5	6811	broad.mit.edu	37	11	62593012	62593012	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:62593012C>T	uc001nvh.3	-	6	581	c.424_splice	c.e6-1	p.D142_splice	STX5_uc010rmj.2_Splice_Site_p.D142_splice|STX5_uc010rmi.2_Splice_Site_p.D46_splice	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	142					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TATTGATGTCCTGGTAAAAGA	0.502000														27			14		0	0	0.003163	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45500099	45500099	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:45500099G>A	uc001cnd.2	-	10	2562	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	778							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGTGAGGGTGGGATGTGTCGC	0.557000														64			25		0	0	0.005443	0	0
LAMB3	3914	broad.mit.edu	37	1	209807876	209807876	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:209807876G>A	uc001hhg.3	-	4	870	c.480C>T	c.(478-480)gtC>gtT	p.V160V	LAMB3_uc009xco.3_Silent_p.V160V|LAMB3_uc001hhh.3_Silent_p.V160V|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	160	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.R159W(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACCCTGGCGGACCCGAGGGA	0.627000														29			10		0	0	0.010729	0	0
UCMA	221044	broad.mit.edu	37	10	13275593	13275593	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:13275593C>T	uc001imd.3	-	2	235	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	55						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAGGAAATTCGAGGCATCTG	0.577000														30			16		0	0	0.007413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	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					16			31		0	0	0.012213	0	0
MYO1F	4542	broad.mit.edu	37	19	8595349	8595349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:8595349C>T	uc002mkg.3	-	19	2290	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	718	IQ.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCACCTTCCTCCCGCATCTCC	0.652000														170			72		0	0	0.014410	0	0
ZNF667	63934	broad.mit.edu	37	19	56954002	56954002	+	Missense_Mutation	SNP	C	T	T	rs149168669		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:56954002C>T	uc002qne.3	-	6	1153	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.R121Q|ZNF667_uc010etm.3_Missense_Mutation_p.R64Q	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCCACTCTTTCGTGTAGGAGC	0.388000														140			46		0	0	0.013114	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807970	18807970	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:18807970G>A	uc001bax.3	+	0	547	c.495G>A	c.(493-495)ccG>ccA	p.P165P	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	165						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGAACCGAAGAGCTCCC	0.622000														35			8		0	0	0.004482	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:29628251A>G	uc010ztl.1	+	2	195	c.163A>G	c.(163-165)Aat>Gat	p.N55D	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000														50			3		0	0	0.009096	0	0
ZNF823	55552	broad.mit.edu	37	19	11833021	11833021	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:11833021G>A	uc002msm.2	-	3	1454	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	ZNF823_uc010xmd.1_Missense_Mutation_p.P261L|ZNF823_uc010dyi.1_Missense_Mutation_p.P399L	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P443P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACATTTATAGGGTTTCACTCC	0.433000										HNSCC(68;0.2)				44			13		0	0	0.001855	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956429	128956429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:128956429G>A	uc003kvb.1	+	8	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	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.	527	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K526N(1)		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)		ATGTAGCAAGGAAGATTTGGA	0.403000														74			22		0	0	0.009535	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														22			7		0	0	0.003080	0	0
MYH6	4624	broad.mit.edu	37	14	23858140	23858140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:23858140G>A	uc001wjv.3	-	28	4174	c.4103C>T	c.(4102-4104)tCg>tTg	p.S1368L	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1368					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCCACCTCCGAGTTGGCCTT	0.632000														51			19		0	0	0.006122	0	0
PARP12	64761	broad.mit.edu	37	7	139724543	139724543	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:139724543C>A	uc003vvl.1	-	11	2797	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	641	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGCTCCAGCCCTCCTTGGCCG	0.582000														61			16		6.31663e-08	7.02551e-08	0.003163	1	0
NOTCH1	4851	broad.mit.edu	37	9	139413057	139413057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139413057G>A	uc004chz.3	-	5	1085	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	362	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGGCCATGGGGACACTCGCA	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				0			6		0	0	0.010729	0	0
DLG2	1740	broad.mit.edu	37	11	83243757	83243757	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:83243757C>T	uc001paj.2	-	15	2175	c.1872G>A	c.(1870-1872)tcG>tcA	p.S624S	DLG2_uc001pai.2_Silent_p.S521S|DLG2_uc010rsy.1_Silent_p.S591S|DLG2_uc021qof.1_Silent_p.S663S|DLG2_uc010rsz.1_Silent_p.S624S|DLG2_uc010rta.1_Silent_p.S624S|DLG2_uc001pak.2_Silent_p.S729S|DLG2_uc010rtb.1_Silent_p.S591S|DLG2_uc010rsx.1_Silent_p.S105S|DLG2_uc010rsw.1_Silent_p.S106S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	624						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTACCCCTTTCGAATCAATCA	0.373000														26			21		0	0	0.002780	0	0
TYW1B	441250	broad.mit.edu	37	7	72209518	72209518	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:72209518G>A	uc011kej.2	-	8	1183	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	TYW1B_uc011keh.1_Missense_Mutation_p.R180C|TYW1B_uc011kei.2_5'UTR|TYW1B_uc011kek.1_Non-coding_Transcript	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	342					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCATGCAGCGATGGCTCTCA	0.413000														48			15		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264124	140264124	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140264124G>T	uc003lif.2	+	0	2271	c.2271G>T	c.(2269-2271)agG>agT	p.R757S	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_Missense_Mutation_p.R757S|PCDHAC2_uc003lid.3_Missense_Mutation_p.R757S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	794					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)			GGCGGCCGAGGGTGTGCTCTG	0.687000														33			24		9.95505e-16	1.13451e-15	0.014323	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692073	31692073	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:31692073C>T	uc002ynw.3	-	0	535	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	94						intermediate filament		p.G94E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AAAACTGCTTCCTTGGCAAGG	0.557000														27			33		0	0	0.013726	0	0
HECW2	57520	broad.mit.edu	37	2	197183420	197183420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:197183420C>T	uc002utm.1	-	8	2377	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	HECW2_uc002utl.1_Missense_Mutation_p.E376K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E732K(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCCCCAGCTCCTCCTGGTCA	0.652000														23			15		0	0	0.004007	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958136	57958136	+	Silent	SNP	G	A	A	rs61902822		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:57958136G>A	uc010rka.2	+	0	231	c.174G>A	c.(172-174)ccG>ccA	p.P58P		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCACACCCCGATGTACTTCT	0.532000														1			20		0	0	0.007413	0	0
LGR6	59352	broad.mit.edu	37	1	202287980	202287980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:202287980C>T	uc001gxu.3	+	17	2549	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	LGR6_uc001gxv.3_Missense_Mutation_p.P798L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.P711L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	850						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GACTCAGGGCCCCTAGCCTAT	0.632000														65			30		0	0	0.006320	0	0
C19orf21	126353	broad.mit.edu	37	19	757879	757879	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:757879G>A	uc002lpo.3	+	1	1016	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	311										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GAGAGCAGAGGGGGCTTCGGC	0.677000														24			21		0	0	0.012319	0	0
FLG	2312	broad.mit.edu	37	1	152282657	152282657	+	Missense_Mutation	SNP	C	T	T	rs147938980	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:152282657C>T	uc001ezu.1	-	2	4741	c.4705G>A	c.(4705-4707)Ggc>Agc	p.G1569S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1569	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCTGCCGGCCCGAGTG	0.587000									Ichthyosis					79			111		0	0	0.014410	0	0
SCFD1	23256	broad.mit.edu	37	14	31107426	31107426	+	Silent	SNP	A	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:31107426A>T	uc001wqm.1	+	4	432	c.408A>T	c.(406-408)gcA>gcT	p.A136A	SCFD1_uc001wqn.1_Silent_p.A69A|SCFD1_uc010tpg.1_Silent_p.A77A|SCFD1_uc010tph.1_5'UTR|SCFD1_uc010amf.1_Intron|SCFD1_uc010tpi.1_Silent_p.A44A|SCFD1_uc010amd.1_Intron	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	136				AA -> EL (in Ref. 2; AAD40381).	post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGCGTTAGCAGCTAGTGCAG	0.348000														18			10		0	0	0.013537	0	0
GBP1P1	400759	broad.mit.edu	37	1	89886727	89886727	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:89886727C>T	uc009wcy.1	+	3		c.505C>T								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		AACCATTAACCAGCAGGCCAT	0.517000														25			5		0	0	0.000602	0	0
HGD	3081	broad.mit.edu	37	3	120352077	120352077	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:120352077T>C	uc003edw.3	-	12	1565	c.1105A>G	c.(1105-1107)Acc>Gcc	p.T369A	HGD_uc003edv.3_Missense_Mutation_p.T228A	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	369					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCATGGGGGGTCATTGTGCTG	0.547000														69			3		0	0	0.004672	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622898	20622898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:20622898G>A	uc001mqd.3	+	1	500	c.227G>A	c.(226-228)gGa>gAa	p.G76E	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	76					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GAGCGGCCAGGAGTGGGGTCT	0.731000														2			5		0	0	0.001168	0	0
KCNH7	90134	broad.mit.edu	37	2	163302619	163302619	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:163302619A>C	uc002uch.2	-	6	1692	c.1463T>G	c.(1462-1464)aTa>aGa	p.I488R	KCNH7_uc002uci.3_Missense_Mutation_p.I481R	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	488					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGTATTGCTATTTTGGCGGG	0.353000														22			9		0	0	0.008291	0	0
TKTL2	84076	broad.mit.edu	37	4	164394719	164394719	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:164394719C>T	uc003iqp.4	-	0	329	c.168G>A	c.(166-168)acG>acA	p.T56T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	56						cytoplasm	metal ion binding|transketolase activity	p.T56T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATACTTCATCGTGTGGAAGA	0.577000														16			5		0	0	0.001984	0	0
FLNC	2318	broad.mit.edu	37	7	128482973	128482973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:128482973G>A	uc003vnz.4	+	15	2724	c.2515G>A	c.(2515-2517)Ggc>Agc	p.G839S	FLNC_uc003voa.4_Missense_Mutation_p.G839S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	839					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						ACCAGGGGCGGGCCGCTACAC	0.592000														34			4		0	0	0.001168	0	0
MARCH7	64844	broad.mit.edu	37	2	160604791	160604791	+	Silent	SNP	A	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:160604791A>G	uc002uax.3	+	4	1112	c.990A>G	c.(988-990)gtA>gtG	p.V330V	MARCH7_uc010foq.3_Silent_p.V330V|MARCH7_uc010zcn.2_Silent_p.V274V|MARCH7_uc010for.3_Silent_p.V292V|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	330	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAGTAATGTACCATCAGCTT	0.413000														27			16		0	0	0.004990	0	0
FBN1	2200	broad.mit.edu	37	15	48722978	48722978	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:48722978C>T	uc001zwx.2	-	55	7156	c.6761G>A	c.(6760-6762)gGa>gAa	p.G2254E	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2254	EGF-like 39; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTCATGTTTTCCCTCTTCACA	0.373000														26			18		0	0	0.010504	0	0
STAC	6769	broad.mit.edu	37	3	36570349	36570349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:36570349C>T	uc003cgh.1	+	9	1021	c.982C>T	c.(982-984)Caa>Taa	p.Q328*	STAC_uc011aya.1_Nonsense_Mutation_p.Q267*	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	328	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGGGAAAATTCAAGACAGAAT	0.343000														8			3		0	0	0.004672	0	0
C1orf159	54991	broad.mit.edu	37	1	1019489	1019489	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:1019489G>A	uc001act.2	-	10	1340	c.854C>T	c.(853-855)tCc>tTc	p.S285F	C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc010nyd.1_Intron|C1orf159_uc001acn.2_Missense_Mutation_p.S249F	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA.	285	Pro-rich.					integral to membrane						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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAAGAGCATGGAAGTCACGGG	0.642000														21			8		0	0	0.003080	0	0
BC040327	0	broad.mit.edu	37	7	11418914	11418914	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:11418914G>A	uc003ssb.3	+	2		c.114_splice	c.e2-1		THSD7A_uc021zzn.1_Intron|THSD7A_uc021zzo.1_Intron|THSD7A_uc003ssd.4_Intron					Homo sapiens cDNA clone IMAGE:4830466.																		TTGTCTGCAGGAGAACAAGAA	0.418000														19			61		0	0	0.014410	0	0
DZIP1	22873	broad.mit.edu	37	13	96238340	96238340	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:96238340G>A	uc001vmk.3	-	20	3121	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	DZIP1_uc001vmj.3_Missense_Mutation_p.R233C|DZIP1_uc001vml.3_Missense_Mutation_p.R738C|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	757					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ACATTTTTGCGATGTGGAAAC	0.318000														20			12		0	0	0.010729	0	0
SLC15A1	6564	broad.mit.edu	37	13	99376274	99376274	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:99376274G>A	uc001vno.3	-	4	334	c.257C>T	c.(256-258)tCg>tTg	p.S86L	SLC15A1_uc001vnp.1_Missense_Mutation_p.S54L	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	86					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AATGGAGAGCGACACAATGGT	0.473000														38			16		0	0	0.006122	0	0
ICAM1	3383	broad.mit.edu	37	19	10394749	10394750	+	Silent	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:10394749_10394750CC>TT	uc002mnq.2	+	3	997_998	c.678_679CC>TT	c.(676-681)gtccta>gtTTta	p.226_227VL>VL	ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	226					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GCCCCCGGGTCCTAGAGGTGGA	0.639000														69			19		0	0	0.004672	0	0
ZNF256	10172	broad.mit.edu	37	19	58452441	58452441	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:58452441C>T	uc002qqu.3	-	2	1970	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	ZNF256_uc010euj.3_Missense_Mutation_p.E426K	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	579					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TTTCCACATTCACTGCATTCA	0.438000														54			13		0	0	0.004007	0	0
NONO	4841	broad.mit.edu	37	X	70511790	70511790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:70511790C>T	uc004dzo.3	+	4	1026	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.H106Y|NONO_uc004dzp.3_Missense_Mutation_p.H106Y|NONO_uc011mpv.2_Missense_Mutation_p.H17Y|NONO_uc004dzq.3_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	106	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTCTTCATTCATAAGGATAA	0.438000			T	TFE3	papillary renal cancer									0			33		0	0	0.004878	0	0
TRPC5	7224	broad.mit.edu	37	X	111020194	111020194	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:111020194C>T	uc004epl.1	-	10	3188	c.2269G>A	c.(2269-2271)Gtg>Atg	p.V757M		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	757					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						AGGTCAAGCACTTCATACCGA	0.428000														75			57		0	0	0.014410	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:52941587C>T	uc002pzk.3	+	3	980	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H292Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000														15			9		0	0	0.006214	0	0
ABCA13	154664	broad.mit.edu	37	7	48547537	48547537	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:48547537C>T	uc003toq.2	+	49	13440	c.13416C>T	c.(13414-13416)tcC>tcT	p.S4472S	ABCA13_uc010kys.1_Silent_p.S1547S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.S202S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4472					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGCATCCATCGGCAGCT	0.562000														20			8		0	0	0.003080	0	0
KCNC3	3748	broad.mit.edu	37	19	50827226	50827226	+	Silent	SNP	C	T	T	rs114192110	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:50827226C>T	uc002pru.1	-	1	1279	c.984G>A	c.(982-984)ccG>ccA	p.P328P	KCNC3_uc002prt.1_5'UTR	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	328					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCCCGGGGATCGGGGAGGCCT	0.597000														26			16		0	0	0.006122	0	0
ZNF254	9534	broad.mit.edu	37	19	24310670	24310670	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:24310670T>C	uc002nru.3	+	3	2002	c.1868T>C	c.(1867-1869)aTt>aCt	p.I623T	ZNF254_uc010xrk.2_Missense_Mutation_p.I538T	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	623					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CATAAGAGAATTCATACTGGA	0.388000														65			22		0	0	0.012319	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639608	43639608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:43639608G>A	uc003owa.2	-	4	737	c.704C>T	c.(703-705)cCc>cTc	p.P235L	MRPS18A_uc003ovy.2_Missense_Mutation_p.P161L|MRPS18A_uc003ovz.2_3'UTR	NM_018135	NP_060605	Q9NVS2	RT18A_HUMAN	Homo sapiens mitochondrial ribosomal protein S18A (MRPS18A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			TTTGTAGATGGGCTTGACGGA	0.617000														16			10		0	0	0.006214	0	0
ZNF229	7772	broad.mit.edu	37	19	44933774	44933774	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:44933774G>A	uc002oze.1	-	5	1616	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	ZNF229_uc010ejk.1_Silent_p.V48V|ZNF229_uc010ejl.1_Silent_p.V388V	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCCTCTGATGGACAAGCAGGT	0.488000														69			26		0	0	0.005443	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118099	118099	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrGL000205.1:118099C>T	uc002kgk.4	+	0		c.1477C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ATCTCATCTGCACTCCTCTCA	0.562000														15			5		0	0	0.004482	0	0
ITGAX	3687	broad.mit.edu	37	16	31372416	31372416	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:31372416G>A	uc002ebt.3	+	8	961	c.894G>A	c.(892-894)tgG>tgA	p.W298*	ITGAX_uc002ebu.1_Nonsense_Mutation_p.W298*|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	298	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAAATTCTTGGAAAGAATTAA	0.383000														32			29		0	0	0.009535	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134020	66134020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:66134020G>A	uc001oht.3	-	7	978	c.749C>T	c.(748-750)cCc>cTc	p.P250L	SLC29A2_uc009yrf.3_Missense_Mutation_p.P130L|SLC29A2_uc001ohu.3_Missense_Mutation_p.P250L|SLC29A2_uc001ohv.3_Intron|AX747485_uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	250					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGGACTACTGGGAATCCCGTT	0.587000														1			16		0	0	0.004007	0	0
GABRG2	2566	broad.mit.edu	37	5	161580117	161580117	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161580117C>A	uc010jjc.3	+	10	1649	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	GABRG2_uc003lyy.4_Missense_Mutation_p.R391S|GABRG2_uc003lyz.4_Missense_Mutation_p.R383S|GABRG2_uc011dej.2_Missense_Mutation_p.R288S	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	383	Interaction with GABARAP (Potential).				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	p.E430D(1)|p.R391G(1)|p.E430*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CATTGATATCCGCCCAAGATC	0.493000														40			19		7.45023e-12	8.38717e-12	0.010504	1	0
FAM179A	165186	broad.mit.edu	37	2	29240153	29240153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:29240153G>A	uc010ezl.3	+	8	1529	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	FAM179A_uc010ymm.2_Missense_Mutation_p.R393K|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	393							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCTCCCAGAGAGCCTTCATG	0.587000														2			25		0	0	0.002780	0	0
FUT9	10690	broad.mit.edu	37	6	96651024	96651024	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:96651024G>A	uc003pop.4	+	3	334	c.-7_splice	c.e3-1		FUT9_uc021zcw.1_5'Flank	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.						L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TATTTCGTAGGAAAAATTATG	0.333000														27			17		0	0	0.007413	0	0
GDF6	392255	broad.mit.edu	37	8	97157741	97157741	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:97157741G>A	uc003yhp.3	-	1	518	c.418C>T	c.(418-420)Cac>Tac	p.H140Y		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	140					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					AGAGGAGTGTGCGAGAGATCG	0.562000														30			8		0	0	0.004482	0	0
TNN	63923	broad.mit.edu	37	1	175066798	175066798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:175066798G>A	uc001gkl.1	+	7	1947	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	612	Fibronectin type-III 4.				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)		GAGCAAGAAGGCTGACACCAA	0.532000														20			27		0	0	0.003954	0	0
CUL5	8065	broad.mit.edu	37	11	107965645	107965645	+	Silent	SNP	A	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:107965645A>T	uc001pjv.3	+	14	2341	c.1674A>T	c.(1672-1674)gtA>gtT	p.V558V	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	558					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TACCGGAAGTAGAAGAATTCT	0.358000														10			12		0	0	0.010729	0	0
OR2H1	26716	broad.mit.edu	37	6	29429651	29429651	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:29429651G>C	uc003nmi.3	+	2	548	c.105G>C	c.(103-105)ttG>ttC	p.L35F	OR2H1_uc003nmj.1_Missense_Mutation_p.L35F|OR2H1_uc010jri.2_Intron|OR2H1_uc021ytr.1_Missense_Mutation_p.L35F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCTACCTCTTGACCCTGGTGG	0.522000														84			40		0	0	0.007835	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143569	61143569	+	RNA	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:61143569G>A	uc021wfy.1	-	0		c.314C>T			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		ACATCCCTAGGGGATTGGGAT	0.647000														35			11		0	0	0.010729	0	0
MPP1	4354	broad.mit.edu	37	X	154014501	154014501	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:154014501G>A	uc004fmp.2	-	5	809	c.655C>T	c.(655-657)Cct>Tct	p.P219S	MPP1_uc011mzv.2_Missense_Mutation_p.P189S|MPP1_uc010nvg.2_Missense_Mutation_p.P199S|MPP1_uc011mzw.2_Missense_Mutation_p.P202S|MPP1_uc010nvh.2_Missense_Mutation_p.P93S	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	219	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGGGGAAGGGATCAATCCT	0.493000														12			95		0	0	0.014410	0	0
TOP2B	7155	broad.mit.edu	37	3	25686832	25686832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:25686832G>A	uc011awn.1	-	1	242	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	TOP2B_uc003cdj.2_Missense_Mutation_p.R62C|TOP2B_uc021wug.1_Missense_Mutation_p.R62C	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	67					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTATCAGGACGAAGAAGAATG	0.343000														38			23		0	0	0.004656	0	0
OR4S1	256148	broad.mit.edu	37	11	48328546	48328546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:48328546C>T	uc010rhu.2	+	0	772	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258C(2)|p.R258L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGTACATTCGTCCCTCCAC	0.488000														67			37		0	0	0.006230	0	0
RNF148	378925	broad.mit.edu	37	7	122342756	122342756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:122342756C>T	uc003vkk.1	-	0	266	c.49G>A	c.(49-51)Gga>Aga	p.G17R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	17						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTCAAAAGTCCAGATGAAACA	0.388000														13			4		0	0	0.000602	0	0
SYCP2L	221711	broad.mit.edu	37	6	10961744	10961744	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:10961744G>A	uc003mzo.3	+	27	2663	c.2367G>A	c.(2365-2367)ggG>ggA	p.G789G	SYCP2L_uc010jow.3_Silent_p.G409G	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	789						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATTCTGGGGGAAACAGTCTG	0.383000														44			19		0	0	0.008871	0	0
CNKSR1	10256	broad.mit.edu	37	1	26506951	26506951	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:26506951C>A	uc001bln.4	+	1	118	c.60C>A	c.(58-60)gaC>gaA	p.D20E	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.D20E|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	20	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTCTTGACGACTCCCTGC	0.582000														60			18		1.00905e-13	1.14524e-13	0.008871	1	0
OR2T12	127064	broad.mit.edu	37	1	248458365	248458365	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:248458365G>A	uc010pzj.2	-	0	516	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E171K(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)			AGAAGTGATCGATCTCGTGTG	0.567000														27			45		0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103405989	103405989	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:103405989C>T	uc001dum.3	-	43	3631	c.3313_splice	c.e43-1	p.G1105_splice	COL11A1_uc001duk.3_Splice_Site_p.G289_splice|COL11A1_uc001dul.3_Splice_Site_p.G1093_splice|COL11A1_uc001dun.3_Splice_Site_p.G1054_splice|COL11A1_uc009weh.3_Splice_Site_p.G977_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1093	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTTTCTCCCTGTATTGA	0.463000														20			10		0	0	0.006214	0	0
TRIM42	287015	broad.mit.edu	37	3	140407150	140407150	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:140407150C>T	uc003eto.2	+	2	1832	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	542						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGTTGTCCTTCAGCAACACTG	0.577000														18			13		0	0	0.013537	0	0
E2F3	1871	broad.mit.edu	37	6	20490632	20490632	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:20490632C>T	uc003nda.2	+	6	1696	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S	E2F3_uc021ymj.1_Missense_Mutation_p.P326S	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	457	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GGAAAAGCTCCCACTGGTGGA	0.468000														244			84		0	0	0.014410	0	0
AB231721	0	broad.mit.edu	37	11	58660160	58660160	+	RNA	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:58660160G>A	uc001nne.1	+	1		c.100G>A								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F.																		TAGGTGAGGGGATAAGAGCAG	0.413000														2			23		0	0	0.003954	0	0
RRBP1	6238	broad.mit.edu	37	20	17601382	17601382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:17601382G>A	uc002wpw.1	-	16	2463	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.A99V|RRBP1_uc002wpu.3_Missense_Mutation_p.A503V|RRBP1_uc010gcl.1_Missense_Mutation_p.A503V|RRBP1_uc002wpv.1_Missense_Mutation_p.A729V|RRBP1_uc010gcm.1_Missense_Mutation_p.A182V	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	1162					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTCCTCTGCGGCGCCCACCTT	0.652000														18			13		0	0	0.002450	0	0
WDR6	11180	broad.mit.edu	37	3	49049481	49049481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:49049481G>A	uc003cvj.2	+	1	742	c.604G>A	c.(604-606)Gag>Aag	p.E202K	WDR6_uc011bbx.1_Missense_Mutation_p.E73K|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.E146K|WDR6_uc011bbz.1_Missense_Mutation_p.E121K	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	172					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)		CGCCTGGAAGGAGCTGACCAT	0.557000														10			10		0	0	0.013537	0	0
IFIH1	64135	broad.mit.edu	37	2	163124599	163124599	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:163124599G>A	uc002uce.3	-	13	3027	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	935					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGACTCACTTGAATTCTGGGG	0.373000														14			9		0	0	0.006214	0	0
NCOR2	9612	broad.mit.edu	37	12	124819812	124819812	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:124819812C>T	uc021rga.1	-	39	6418	c.6301G>A	c.(6301-6303)Ggc>Agc	p.G2101S	NCOR2_uc021rgb.1_Missense_Mutation_p.G2085S|NCOR2_uc010tbb.2_Missense_Mutation_p.G2094S|NCOR2_uc010tbc.2_Missense_Mutation_p.G2084S|NCOR2_uc021rgc.1_Missense_Mutation_p.G2084S|NCOR2_uc010tax.2_Missense_Mutation_p.G215S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2105					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCTCCCCGCCAAGCTTCACG	0.706000														12			4		0	0	0.009096	0	0
ITIH3	3699	broad.mit.edu	37	3	52842642	52842642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:52842642G>A	uc003dfv.2	+	21	2654	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	ITIH3_uc011bek.1_Missense_Mutation_p.G681E	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	873					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACAACAACGGAGAAGGGCTG	0.522000														15			12		0	0	0.010729	0	0
TLN2	83660	broad.mit.edu	37	15	63128194	63128194	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:63128194C>T	uc002alb.4	+	53	7296	c.7296C>T	c.(7294-7296)gtC>gtT	p.V2432V	TLN2_uc002alc.4_Silent_p.V825V|TLN2_uc010uic.2_Silent_p.V33V|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2432	I/LWEQ.				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						CCAAGCAGGTCGCCGCTTCCA	0.627000														15			11		0	0	0.008291	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519860	84519860	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:84519860C>T	uc003how.3	+	11	1407	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	AGPAT9_uc003hox.3_Silent_p.L397L|AGPAT9_uc003hoy.3_Silent_p.L397L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	397					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ACAAGGAGGCCTGACTGAACT	0.313000														40			8		0	0	0.006214	0	0
DGCR2	9993	broad.mit.edu	37	22	19055622	19055622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:19055622G>A	uc002zoq.1	-	2	567	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	DGCR2_uc021wkx.1_Missense_Mutation_p.R107C|DGCR2_uc021wky.1_Missense_Mutation_p.R66C|DGCR2_uc021wkz.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R66C|DGCR2_uc002zor.1_5'UTR	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	107					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGCTGAAGCGAACGGGCTGC	0.647000														27			12		0	0	0.001855	0	0
EPB42	2038	broad.mit.edu	37	15	43501592	43501592	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:43501592C>T	uc001zrb.4	-	5	1102	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Missense_Mutation_p.E238K|EPB42_uc010udm.2_Missense_Mutation_p.E160K	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	238					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AAGGCCCCTTCCTGGGTGGCC	0.637000														51			44		0	0	0.010771	0	0
DDR1	780	broad.mit.edu	37	6	30864588	30864588	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:30864588C>T	uc003nrv.3	+	11	1857	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	DDR1_uc010jse.3_Silent_p.F568F|DDR1_uc003nrq.3_Silent_p.F568F|DDR1_uc003nrr.3_Silent_p.F605F|DDR1_uc003nrs.3_Silent_p.F605F|DDR1_uc003nrt.3_Silent_p.F568F|DDR1_uc011dms.2_Silent_p.F586F|DDR1_uc003nru.3_Silent_p.F568F|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Silent_p.F340F	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	605					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)	GAGTGGATTTCCCTCGATCTC	0.622000														41			26		0	0	0.003954	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407303	148407303	+	Silent	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:148407303T>C	uc003lpu.3	-	10	2144	c.1992A>G	c.(1990-1992)ggA>ggG	p.G664G	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.G308G|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.G211G|SH3TC2_uc010jgx.3_Silent_p.G657G|SH3TC2_uc003lpv.1_Silent_p.G211G|SH3TC2_uc011dbz.1_Silent_p.G549G	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	664							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGGTGTCCAGAGAGGA	0.587000														39			19		0	0	0.007413	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150416140	150416140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:150416140G>A	uc003whq.3	+	1	145	c.5G>A	c.(4-6)gGa>gAa	p.G2E	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.G2E	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GTAAGCATGGGAGGAAGGAAG	0.413000														38			11		0	0	0.013537	0	0
AK300387	0	broad.mit.edu	37	16	32190787	32190787	+	RNA	SNP	T	C	C	rs143291668	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:32190787T>C	uc010vfv.1	-	6		c.1037A>G								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TGACAACAACTGCCGTTTGTT	0.522000														7			6		0	0	0.001168	0	0
GRM3	2913	broad.mit.edu	37	7	86493639	86493639	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:86493639G>A	uc003uid.3	+	5	3707	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	GRM3_uc010lef.3_Missense_Mutation_p.G512E|GRM3_uc010leg.3_Missense_Mutation_p.E742K|GRM3_uc010leh.3_Missense_Mutation_p.E462K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	870					synaptic transmission	integral to plasma membrane		p.R869R(2)|p.E870K(2)		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)	CAATGGGCGGGAAGTCCTCGA	0.468000														93			33		0	0	0.006230	0	0
EPN2	22905	broad.mit.edu	37	17	19186624	19186624	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:19186624G>A	uc002gvd.4	+	2	640	c.192G>A	c.(190-192)ctG>ctA	p.L64L	EPN2_uc002gvc.2_Silent_p.L64L|EPN2_uc010vyn.1_Silent_p.L64L|EPN2_uc010cql.1_Intron|EPN2_uc002gve.4_Silent_p.L64L|EPN2_uc002gvf.4_Intron|EPN2_uc010vyo.2_Intron|EPN2_uc002gvh.1_Silent_p.L64L|EPN2_uc010vyp.2_Silent_p.L64L|EPN2_uc010vyq.2_Silent_p.L64L	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	64	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGAAGCGGCTGAATGACCATG	0.602000														55			21		0	0	0.003954	0	0
ZFP3	124961	broad.mit.edu	37	17	4995561	4995561	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:4995561A>T	uc002gaq.3	+	1	887	c.762A>T	c.(760-762)gaA>gaT	p.E254D	ZFP3_uc021tog.1_Missense_Mutation_p.E254D	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AACCATATGAATGTAATGAAT	0.393000														39			10		0	0	0.013537	0	0
PRDM10	56980	broad.mit.edu	37	11	129785642	129785642	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:129785642G>A	uc001qfm.3	-	16	2683	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P	PRDM10_uc001qfj.3_Silent_p.P731P|PRDM10_uc001qfk.3_Silent_p.P727P|PRDM10_uc001qfl.3_Silent_p.P731P|PRDM10_uc010sbx.2_Silent_p.P727P|PRDM10_uc001qfn.3_Silent_p.P813P|PRDM10_uc009zcs.1_5'UTR	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCTCAGCATGGGGTCTGGCT	0.627000														47			44		0	0	0.014410	0	0
F8	2157	broad.mit.edu	37	X	154197612	154197612	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:154197612G>T	uc004fmt.3	-	6	1174	c.1003C>A	c.(1003-1005)Caa>Aaa	p.Q335K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	335	F5/8 type A 1.|Plastocyanin-like 2.				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)	TTACCATGTTGGTGGGAAGAG	0.363000														16			12		0.00136819	0.00149773	0.013537	1	0
REST	5978	broad.mit.edu	37	4	57777248	57777248	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:57777248G>A	uc003hch.3	+	1	791	c.444G>A	c.(442-444)gaG>gaA	p.E148E	REST_uc003hci.3_Silent_p.E148E|REST_uc003hcj.1_Silent_p.E148E|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	148					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGGAGCGGAGGACAAAGGCA	0.463000														40			12		0	0	0.010729	0	0
PSG10P	653492	broad.mit.edu	37	19	43358102	43358102	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:43358102G>A	uc010eip.3	-	2		c.529_splice	c.e2+1		PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron					Homo sapiens pregnancy specific beta-1-glycoprotein 10, pseudogene (PSG10P), non-coding RNA.																		ATCACTTACGGTATAAGGTGA	0.517000														189			62		0	0	0.014410	0	0
TRIM42	287015	broad.mit.edu	37	3	140401671	140401671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:140401671C>T	uc003eto.2	+	1	915	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	237						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGGGCCCATCCTCTGCCAGGT	0.627000														23			11		0	0	0.004007	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264383	85264383	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:85264383G>A	uc001szv.3	-	8	1862	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	SLC6A15_uc010sul.2_Missense_Mutation_p.P350S	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	457					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GACCAGAAGGGAGATGCAGGA	0.443000														52			24		0	0	0.004656	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62892945	62892945	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:62892945G>A	uc002jey.2	-	2	1047	c.431C>T	c.(430-432)cCt>cTt	p.P144L	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	144						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGGCGAAACAGGGAGCCTTTC	0.502000														38			13		0	0	0.005443	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735889	41735889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:41735889C>T	uc003azw.3	+	9	1102	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	312					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P296S(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCCGTGTTCCCCGGCGGGAC	0.662000														38			14		0	0	0.001855	0	0
SYMPK	8189	broad.mit.edu	37	19	46324687	46324687	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:46324687G>C	uc002pdn.3	-	21	3093	c.2848C>G	c.(2848-2850)Cac>Gac	p.H950D	SYMPK_uc002pdo.1_Missense_Mutation_p.H950D|SYMPK_uc002pdp.1_Missense_Mutation_p.H950D	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	950					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAATGTTGTGTAATGCGATC	0.617000														30			33		0	0	0.004289	0	0
PDZD8	118987	broad.mit.edu	37	10	119043055	119043055	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:119043055C>T	uc001lde.1	-	4	3388	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1063					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATCAGTTGTCTCTTTTTCTT	0.378000														28			16		0	0	0.006122	0	0
DNAH2	146754	broad.mit.edu	37	17	7699862	7699862	+	Silent	SNP	G	A	A	rs142996833		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:7699862G>A	uc002giu.1	+	48	7769	c.7755G>A	c.(7753-7755)ggG>ggA	p.G2585G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2585	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCCATTGGGAACGTGGTGA	0.532000														24			9		0	0	0.008291	0	0
POTEA	340441	broad.mit.edu	37	8	43173699	43173699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:43173699C>T	uc003xpz.1	+	8	1164	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	POTEA_uc003xqa.1_Missense_Mutation_p.P328L	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	374										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGATTAGTTCCACAAAGAAAG	0.403000														22			37		0	0	0.003271	0	0
SCN10A	6336	broad.mit.edu	37	3	38793874	38793874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:38793874C>T	uc003ciq.3	-	10	1591	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	531					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGATGGCTTTCGTGGTCTCCA	0.612000														14			13		0	0	0.003163	0	0
ZNF48	197407	broad.mit.edu	37	16	30409766	30409766	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:30409766C>T	uc002dya.2	+	1	1571	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S	ZNF48_uc021tgi.1_Missense_Mutation_p.P399S|ZNF48_uc021tgj.1_Missense_Mutation_p.P276S|ZNF48_uc021tgk.1_Missense_Mutation_p.P399S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	399	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGCTCTGATCCCCAGCCCACC	0.652000														15			12		0	0	0.010729	0	0
KRT9	3857	broad.mit.edu	37	17	39724859	39724859	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:39724859G>A	uc002hxe.4	-	4	1137	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	357	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GACCACTACTGGATACCTCAT	0.557000														112			148		0	0	0.014410	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918788	10918788	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:10918788G>T	uc002ras.3	+	11	1163	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	ATP6V1C2_uc002rat.3_Missense_Mutation_p.V306L	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	352					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TGTGGAGTCCGTGCTCAGGTG	0.622000														28			9		2.74318e-10	3.06331e-10	0.006214	1	0
RS1	6247	broad.mit.edu	37	X	18674878	18674879	+	Splice_Site	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:18674878_18674879CC>TT	uc004cyo.3	-	3	114	c.79_splice	c.e3-1	p.D27_splice		NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	27					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCGCCTTCATCCTGCAGCCAAC	0.550000														25			21		0	0	0.004672	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559170	1559170	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:1559170C>T	uc010gai.3	-	1	346	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB1_uc002wfk.4_Missense_Mutation_p.E83K	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	83	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AAGTGGCCTTCTTTCTGATTG	0.527000														82			64		0	0	0.014410	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062372	144062372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:144062372G>A	uc003wel.3	+	1	2728	c.2610G>A	c.(2608-2610)atG>atA	p.M870I	ARHGEF5_uc003wek.3_Missense_Mutation_p.M870I|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	870					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAGGACATATGAACTCAGGGG	0.627000														83			5		0	0	0.001984	0	0
TMEM132E	124842	broad.mit.edu	37	17	32957127	32957127	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:32957127C>T	uc002hif.3	+	5	1497	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	390						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGGACATCTCCGCCCTAGTG	0.572000														10			11		0	0	0.010729	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276851	47276851	+	Nonsense_Mutation	SNP	G	A	A	rs112395788		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:47276851G>A	uc001cqn.4	+	2	446	c.362G>A	c.(361-363)tGg>tAg	p.W121*	CYP4B1_uc009vyl.1_Intron|CYP4B1_uc001cqm.4_Nonsense_Mutation_p.W121*|CYP4B1_uc009vym.3_Intron|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	121					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCAGTGGATTGGTGAG	0.567000														39			12		0	0	0.002450	0	0
POLR2B	5431	broad.mit.edu	37	4	57881716	57881716	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:57881716G>A	uc003hcl.1	+	13	1892	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	POLR2B_uc011cae.1_Missense_Mutation_p.D610N|POLR2B_uc011caf.1_Missense_Mutation_p.D542N|POLR2B_uc003hcm.1_Missense_Mutation_p.D110N	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	617					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GATCTATACGGATGCAGGCCG	0.333000														56			26		0	0	0.007291	0	0
CPT1C	126129	broad.mit.edu	37	19	50216759	50216759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:50216759G>A	uc010eng.3	+	19	2625	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	CPT1C_uc002ppk.3_Missense_Mutation_p.R759H|CPT1C_uc010enh.3_Missense_Mutation_p.R770H|CPT1C_uc002ppj.3_Missense_Mutation_p.R770H|CPT1C_uc010eni.1_Missense_Mutation_p.R338H	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	770					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CATTTTAAGCGCCGGTTCAGA	0.597000														86			30		0	0	0.008361	0	0
RAB27B	5874	broad.mit.edu	37	18	52544879	52544879	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:52544879G>A	uc002lfr.3	+	1	306	c.63G>A	c.(61-63)ggG>ggA	p.G21G		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	21					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CAGGGGTGGGGAAGACAACAT	0.418000														30			9		0	0	0.004482	0	0
SCTR	6344	broad.mit.edu	37	2	120221717	120221717	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:120221717G>A	uc002tma.3	-	5	844	c.618C>T	c.(616-618)acC>acT	p.T206T	SCTR_uc002tlz.3_Silent_p.T28T	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	206					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CATCGCAGTAGGTGACATCAT	0.572000														67			26		0	0	0.006320	0	0
KDM5B	10765	broad.mit.edu	37	1	202702780	202702780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:202702780G>A	uc009xag.3	-	23	3882	c.3766C>T	c.(3766-3768)Cat>Tat	p.H1256Y	KDM5B_uc001gyf.3_Missense_Mutation_p.H1220Y|KDM5B_uc001gyg.1_Missense_Mutation_p.H1062Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1220					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTCCGACAATGGGGACAAAGC	0.537000														30			15		0	0	0.002450	0	0
FGD2	221472	broad.mit.edu	37	6	36983600	36983600	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:36983600C>T	uc010jwp.1	+	8	1257	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	FGD2_uc003ong.2_Silent_p.F84F|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	362	PH 1.				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						GCGCCCAGTTCCAGGTGAGGA	0.612000														10			3		0	0	0.004672	0	0
MINK1	50488	broad.mit.edu	37	17	4788786	4788786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:4788786G>A	uc010vsl.2	+	6	761	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	MINK1_uc010vsk.2_Missense_Mutation_p.G173R|MINK1_uc010vsm.2_Missense_Mutation_p.G173R|MINK1_uc010vsn.2_Missense_Mutation_p.G173R|MINK1_uc010vso.2_Missense_Mutation_p.G118R|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	173	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTGGATTTTGGGGTGAGTGC	0.592000														65			23		0	0	0.003330	0	0
INMT	11185	broad.mit.edu	37	7	30795182	30795182	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:30795182C>T	uc003tbs.1	+	2	523	c.507C>T	c.(505-507)gcC>gcT	p.A169A	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.A168A	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	169						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGGAGTGTGCCTGCTGTAGCC	0.657000														61			18		0	0	0.007413	0	0
LRRN2	10446	broad.mit.edu	37	1	204587544	204587544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:204587544C>T	uc021phy.1	-	0	1577	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.G526E|LRRN2_uc001hbf.1_Missense_Mutation_p.G526E|LRRN2_uc009xbf.1_Missense_Mutation_p.G526E|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	526					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGCCCCTGTCCTTCGTCCCT	0.622000														15			26		0	0	0.004656	0	0
RPTN	126638	broad.mit.edu	37	1	152128537	152128537	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:152128537C>T	uc001ezs.1	-	2	1103	c.1038G>A	c.(1036-1038)atG>atA	p.M346I		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	346	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.M346I(2)		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						CTTTTCTGTCCATTTGACCAT	0.493000														203			342		0	0	0.014410	0	0
MEX3B	84206	broad.mit.edu	37	15	82335724	82335724	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:82335724G>A	uc002bgq.1	-	1	1802	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	496					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ggagctggacgaagaggagga	0.667000														9			3		0	0	0.004672	0	0
LCN8	138307	broad.mit.edu	37	9	139651001	139651001	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139651001C>T	uc004cjb.1	-	2	548	c.199G>A	c.(199-201)Gac>Aac	p.D67N	LCN8_uc004cja.3_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.D67N	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	Homo sapiens lipocalin 8 (LCN8), mRNA.	90					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CCCGTACTGTCTATTTCTGAG	0.537000														40			23		0	0	0.003954	0	0
CHODL	140578	broad.mit.edu	37	21	19629391	19629391	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:19629391G>A	uc002ykv.3	+	2	885	c.494G>A	c.(493-495)tGg>tAg	p.W165*	CHODL_uc002ykr.3_Nonsense_Mutation_p.W124*|CHODL_uc002yks.3_Nonsense_Mutation_p.W124*|CHODL_uc021whr.1_Nonsense_Mutation_p.W124*|CHODL_uc002ykt.3_Nonsense_Mutation_p.W124*|CHODL_uc002yku.3_Nonsense_Mutation_p.W124*|CHODL_uc021whs.1_Nonsense_Mutation_p.W146*	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	165	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTTTACCAGTGGAATGATGAC	0.423000														24			16		0	0	0.006122	0	0
BMPR2	659	broad.mit.edu	37	2	203383621	203383621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:203383621C>T	uc002uzf.4	+	5	1846	c.698C>T	c.(697-699)tCc>tTc	p.S233F	BMPR2_uc010ftr.3_Missense_Mutation_p.S233F	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	233	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAAGTGTTTTCCTTTGCAAAC	0.413000														2			42		0	0	0.008740	0	0
DENND2C	163259	broad.mit.edu	37	1	115143503	115143503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:115143503G>A	uc001efd.1	-	13	2596	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P575S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	632	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGGGAAAGGAGCTTCCATG	0.433000														43			30		0	0	0.008361	0	0
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:83745800T>A	uc003hnh.3	-	24	3499	c.3319A>T	c.(3319-3321)Att>Ttt	p.I1107F	SEC31A_uc003hnd.3_Missense_Mutation_p.I276F|SEC31A_uc003hne.3_Missense_Mutation_p.I856F|SEC31A_uc011ccl.2_Missense_Mutation_p.I1053F|SEC31A_uc003hnl.3_Missense_Mutation_p.I954F|SEC31A_uc003hng.3_Missense_Mutation_p.I1092F|SEC31A_uc011ccm.2_Missense_Mutation_p.I1087F|SEC31A_uc003hni.3_Missense_Mutation_p.I993F|SEC31A_uc003hnk.3_Missense_Mutation_p.I1068F|SEC31A_uc003hnf.3_Missense_Mutation_p.I1107F|SEC31A_uc011ccn.2_Missense_Mutation_p.I1092F|SEC31A_uc003hnm.3_Missense_Mutation_p.I1107F	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	1107	Interaction with PDCD6.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388000														24			12		0	0	0.001855	0	0
KCNH5	27133	broad.mit.edu	37	14	63269135	63269135	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:63269135G>A	uc001xfx.3	-	8	1785	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	KCNH5_uc001xfy.3_Silent_p.Y578Y|KCNH5_uc001xfz.1_Silent_p.Y520Y	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	578					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCAGCATGGTAAATGAGGT	0.512000														31			17		0	0	0.006122	0	0
ATP6V0E1	8992	broad.mit.edu	37	5	172447304	172447304	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:172447304C>T	uc003mcd.1	+	2	317	c.216C>T	c.(214-216)acC>acT	p.T72T	SNORA74B_uc003mce.1_5'Flank	NM_003945	NP_003936	O15342	VA0E1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA.	72					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAATGAAACCATCTGGTATC	0.443000														24			5		0	0	0.001168	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933583	31933583	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:31933583C>T	uc011adb.2	-	0	26	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	Homo sapiens keratin associated protein 19-7 (KRTAP19-7), mRNA.	9						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GCCTAGGCCTCCATAGTAGCT	0.522000														7			35		0	0	0.004289	0	0
SPOCK1	6695	broad.mit.edu	37	5	136314410	136314410	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:136314410C>T	uc003lbo.3	-	9	1444	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	SPOCK1_uc003lbp.3_Missense_Mutation_p.R418Q	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	418					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCACGGCTCGGGTGTGCAC	0.527000														75			38		0	0	0.010771	0	0
TPTE	7179	broad.mit.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:10916378G>A	uc002yip.1	-	19	1636	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.S405L|TPTE_uc002yir.1_Missense_Mutation_p.S385L|TPTE_uc010gkv.1_Missense_Mutation_p.S285L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	423	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S405L(2)		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)		ACGAGGAATCGAATAAATAAT	0.388000														46			13		0	0	0.001855	0	0
ATP2B3	492	broad.mit.edu	37	X	152807134	152807134	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:152807134G>A	uc004fht.1	+	2	540	c.414G>A	c.(412-414)ggG>ggA	p.G138G	ATP2B3_uc004fhs.1_Silent_p.G138G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	138					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGTGGGAATGTGTCGG	0.617000														3			19		0	0	0.008871	0	0
NPY	4852	broad.mit.edu	37	7	24329122	24329122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:24329122G>A	uc003sww.2	+	2	281	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	65					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TTCCAGATATGGAAAACGATC	0.383000														48			8		0	0	0.003080	0	0
RFXANK	8625	broad.mit.edu	37	19	19309986	19309986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:19309986G>A	uc002nls.3	+	8	1160	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	RFXANK_uc002nlt.3_Missense_Mutation_p.E196K|RFXANK_uc002nlu.3_Missense_Mutation_p.E197K|RFXANK_uc002nlv.3_Missense_Mutation_p.E219K|RFXANK_uc021uqt.1_Missense_Mutation_p.E218K	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CCTCACCACCGAAGCCGACTC	0.657000														48			36		0	0	0.004289	0	0
MLL2	8085	broad.mit.edu	37	12	49444873	49444873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:49444873C>T	uc001rta.4	-	9	2593	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	865	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGGCTTTTCAGGCCGAGGG	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				58			23		0	0	0.004656	0	0
MYH6	4624	broad.mit.edu	37	14	23865593	23865593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:23865593C>T	uc001wjv.3	-	19	2400	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	777	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCCGCATCTCCTCCAGCAGC	0.612000														16			21		0	0	0.012319	0	0
CCDC11	220136	broad.mit.edu	37	18	47787456	47787456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:47787456C>T	uc002lee.2	-	2	542	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	151										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)		TCTAGCTTTTCAGCCACAAAA	0.313000														105			27		0	0	0.010818	0	0
TRIM42	287015	broad.mit.edu	37	3	140397412	140397412	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:140397412C>T	uc003eto.2	+	1	547	c.341_splice	c.e1+1	p.S114_splice		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	114						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCCATACCTCGTAAGTGCCA	0.562000														11			7		0	0	0.001984	0	0
C1orf127	148345	broad.mit.edu	37	1	11008794	11008794	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:11008794G>A	uc010oao.2	-	11	1398	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	C1orf127_uc001ars.2_Silent_p.P301P|C1orf127_uc001arr.2_Silent_p.P309P	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	317										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTTCCCCTGGGGGAGGCTGGG	0.647000														77			20		0	0	0.010504	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102756	13102756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:13102756G>A	uc010shp.2	-	0	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	188						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GGTGGCTTTGGAGACGAAGAA	0.498000														21			15		0	0	0.004007	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844352	131844352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:131844352C>T	uc003vra.4	-	24	4769	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1514						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						ACTGGGACCTCGGGGCTGTTG	0.527000														224			56		0	0	0.014410	0	0
LTBP2	4053	broad.mit.edu	37	14	75018928	75018928	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:75018928T>C	uc001xqa.3	-	5	1748	c.1361A>G	c.(1360-1362)aAg>aGg	p.K454R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	454					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTGGACTGCTTCAGTGGGGC	0.682000														21			7		0	0	0.001984	0	0
COL19A1	1310	broad.mit.edu	37	6	70840095	70840095	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:70840095G>C	uc003pfc.1	+	17	1480	c.1363G>C	c.(1363-1365)Gga>Cga	p.G455R	COL19A1_uc010kam.2_Missense_Mutation_p.G351R	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	455	Triple-helical region 3 (COL3).				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						ACATGAAGCTGGAGGCCTGAA	0.383000														6			3		0	0	0.004672	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45523216	45523216	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:45523216G>A	uc002zea.3	+	22	3753	c.3584G>A	c.(3583-3585)gGg>gAg	p.G1195E	TRAPPC10_uc010gpo.3_Missense_Mutation_p.G906E|TRAPPC10_uc011afa.2_Missense_Mutation_p.G573E	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1195					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GACAAGCACGGGGACGACCAG	0.622000														4			3		0	0	0.004672	0	0
TIMELESS	8914	broad.mit.edu	37	12	56826824	56826824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:56826824G>A	uc001slf.2	-	5	685	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	TIMELESS_uc001slg.2_Missense_Mutation_p.L173F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	173					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCTGATCAAGGTCAGCTGGG	0.468000														33			13		0	0	0.013537	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748439	43748439	+	Silent	SNP	G	A	A	rs150010105	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:43748439G>A	uc001zrs.3	-	11	2500	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	TP53BP1_uc010udp.2_Silent_p.S784S|TP53BP1_uc001zrq.4_Silent_p.S789S|TP53BP1_uc001zrr.4_Silent_p.S789S|TP53BP1_uc010udq.1_Silent_p.S789S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	784					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)		CCCATGACTGGGAATCTGAGC	0.433000								Other conserved DNA damage response genes						57			12		0	0	0.010729	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692964	26692964	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:26692964C>T	uc003acb.3	+	3	1276	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SEZ6L_uc003acd.3_Silent_p.I360I|SEZ6L_uc011akd.2_Silent_p.I360I|SEZ6L_uc003ace.3_Silent_p.I360I|SEZ6L_uc011akc.2_Silent_p.I360I|SEZ6L_uc003acc.3_Silent_p.I360I|SEZ6L_uc003acf.1_Silent_p.I133I|SEZ6L_uc010gvc.1_Silent_p.I133I	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	360	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCAGGTAATCCGAAGCCCCA	0.632000														17			8		0	0	0.003080	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140792874	140792874	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140792874G>A	uc003lkl.2	+	0	132	c.132G>A	c.(130-132)gaG>gaA	p.E44E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.E44E	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	40	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)			AGGAATTAGAGAAAGGCTCTT	0.597000											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			27		0	0	0.005443	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629827	122629827	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:122629827G>A	uc003efz.1	-	21	3461	c.3157C>T	c.(3157-3159)Cta>Tta	p.L1053L	SEMA5B_uc011bju.1_Silent_p.L959L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L1053L|SEMA5B_uc003efy.1_Silent_p.L31L	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.	1053					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)		TACACTGCTAGGGTCAGGAGC	0.597000														9			11		0	0	0.008291	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241750	160241750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:160241750G>A	uc002uao.3	-	22	4007	c.3602C>T	c.(3601-3603)gCt>gTt	p.A1201V	BAZ2B_uc002uap.3_Missense_Mutation_p.A1165V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1201					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						AGCCTGAAAAGCTTTGGTCTT	0.458000														53			23		0	0	0.012319	0	0
GJC2	57165	broad.mit.edu	37	1	228345525	228345525	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:228345525C>T	uc021pkg.1	+	0	66	c.66C>T	c.(64-66)ttC>ttT	p.F22F	GJC2_uc001hsk.3_Silent_p.F22F	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	22					cell death	connexon complex|integral to membrane		p.F22F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				ACTCCACCTTCGTGGGCAAGG	0.652000														8			5		0	0	0.000602	0	0
LRP5L	91355	broad.mit.edu	37	22	25753257	25753257	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:25753257G>A	uc003abs.3	-	1	2868	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	LRP5L_uc011ajz.2_Missense_Mutation_p.L135F|LRP5L_uc010guw.1_Missense_Mutation_p.L135F	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	135										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCCCAGTAGAGCTTCCCTTCC	0.632000														18			26		0	0	0.007291	0	0
SLC15A1	6564	broad.mit.edu	37	13	99361881	99361881	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:99361881G>A	uc001vno.3	-	13	1089	c.1012C>T	c.(1012-1014)Ccg>Tcg	p.P338S		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	338					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.P338Q(1)|p.P338P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCGAAGATCGGGACCATGATC	0.512000														25			13		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9064451	9064451	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9064451G>A	uc002mkp.3	-	2	23199	c.22995C>T	c.(22993-22995)tcC>tcT	p.S7665S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7667	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						CTCTGCCCATGGAAGTGGTCA	0.522000														21			38		0	0	0.004878	0	0
ANO7	50636	broad.mit.edu	37	2	242135234	242135234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:242135234C>T	uc002wax.2	+	3	548	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ANO7_uc002waw.3_Missense_Mutation_p.R148C	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	149						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGATAATCTTCGTGCGGCTGG	0.607000														6			36		0	0	0.006999	0	0
MLL2	8085	broad.mit.edu	37	12	49421849	49421849	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:49421849G>A	uc001rta.4	-	45	14458	c.14458C>T	c.(14458-14460)Cca>Tca	p.P4820S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4820					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGCTCTCTGGGAACAGCACC	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				11			17		0	0	0.004007	0	0
FAM123C	205147	broad.mit.edu	37	2	131520495	131520495	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:131520495C>T	uc021voy.1	+	0	850	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	FAM123C_uc002trw.2_Missense_Mutation_p.P284S|FAM123C_uc010fmv.2_Missense_Mutation_p.P284S|FAM123C_uc010fms.1_Missense_Mutation_p.P284S|FAM123C_uc010fmt.1_Missense_Mutation_p.P284S|FAM123C_uc010fmu.1_Missense_Mutation_p.P284S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	284										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GAGCAAGGTTCCCAGGGGCCC	0.637000														2			51		0	0	0.014410	0	0
OR6A2	8590	broad.mit.edu	37	11	6816938	6816938	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:6816938A>T	uc001mes.1	-	0	202	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCGCCACTCCATGTCATTGGT	0.498000														16			11		0	0	0.013537	0	0
LMX1A	4009	broad.mit.edu	37	1	165218838	165218838	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:165218838G>A	uc001gcz.2	-	3	497	c.303C>T	c.(301-303)atC>atT	p.I101I	LMX1A_uc021pdz.1_Silent_p.I101I	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	101	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CATTGGGAGCGATGGCCTCGA	0.537000														14			7		0	0	0.006214	0	0
PRSS23	11098	broad.mit.edu	37	11	86519436	86519436	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:86519436G>A	uc021qok.1	+	0	751	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.E219K|PRSS23_uc001pcb.3_Missense_Mutation_p.E251K	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	251					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCCCTCCTGGAACTCAAAAA	0.493000														22			10		0	0	0.008291	0	0
GABRA1	2554	broad.mit.edu	37	5	161324352	161324352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161324352G>A	uc010jiw.3	+	10	1763	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	GABRA1_uc010jix.3_Missense_Mutation_p.G432E|GABRA1_uc010jiy.3_Missense_Mutation_p.G432E|GABRA1_uc003lyx.4_Missense_Mutation_p.G432E|GABRA1_uc010jiz.3_Missense_Mutation_p.G432E|GABRA1_uc010jja.3_Missense_Mutation_p.G432E|GABRA1_uc010jjb.3_Missense_Mutation_p.G432E	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	432					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGCTATTTGGAATCTTTAAC	0.428000														66			27		0	0	0.003271	0	0
SHANK2	22941	broad.mit.edu	37	11	70336458	70336458	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:70336458G>C	uc001oqc.3	-	18	2388	c.2276C>G	c.(2275-2277)aCg>aGg	p.T759R	SHANK2_uc010rqn.2_Missense_Mutation_p.T235R|SHANK2_uc001opz.3_Missense_Mutation_p.T230R|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.T227R|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.T38R	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	446					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AACAGTGGGCGTCATCACGGC	0.607000														10			44		0	0	0.014410	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898740	130898740	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:130898740G>A	uc001uil.2	-	13	2798	c.2582C>T	c.(2581-2583)cCg>cTg	p.P861L		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	861	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CATGGTGAGCGGGTCGTAGTC	0.577000														56			31		0	0	0.009535	0	0
OR6K2	81448	broad.mit.edu	37	1	158669705	158669705	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:158669705G>A	uc001fsu.1	-	0	738	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAAGACAATGAAGTGAGAGA	0.478000														36			7		0	0	0.003080	0	0
CCBE1	147372	broad.mit.edu	37	18	57106963	57106963	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:57106963G>A	uc002lib.3	-	7	931	c.861C>T	c.(859-861)ccC>ccT	p.P287P	CCBE1_uc010dpq.3_Intron|CCBE1_uc002lia.3_Silent_p.P140P	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	287	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGGTCCCATGGGTCCCATTG	0.582000														70			20		0	0	0.007413	0	0
CBX2	84733	broad.mit.edu	37	17	77757844	77757844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:77757844C>T	uc002jxc.3	+	4	660	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	201					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCAAGCTGCCCCCTCCACTC	0.701000														13			22		0	0	0.014323	0	0
POT1	25913	broad.mit.edu	37	7	124503644	124503644	+	Silent	SNP	T	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:124503644T>A	uc003vlm.3	-	7	907	c.306A>T	c.(304-306)gcA>gcT	p.A102A	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	102					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F101I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACGTCAAAGATGCAAAGCCAG	0.398000														64			16		0	0	0.007413	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979059	6979059	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:6979059C>T	uc002gek.3	-	6	969	c.666G>A	c.(664-666)agG>agA	p.R222R	CLEC10A_uc002gej.3_Silent_p.R198R|CLEC10A_uc010clv.2_Silent_p.R195R	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	222	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTGCTCCTCCCTGGAGTTGA	0.537000														36			13		0	0	0.002450	0	0
FMO2	2327	broad.mit.edu	37	1	171174596	171174596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:171174596C>T	uc001ghk.1	+	6	1123	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	FMO2_uc010pmd.1_Missense_Mutation_p.P116S	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	336					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.P336L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTCTCTTTTCCCTTCCTTGA	0.413000														18			12		0	0	0.001855	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131088	38131088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:38131088G>A	uc003atr.3	+	8	5016	c.4745G>A	c.(4744-4746)tGg>tAg	p.W1582*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.W1410*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1582					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTGGACTGGGAGGGCCTC	0.687000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			9		0	0	0.008291	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973268	73973268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:73973268G>A	uc003uaq.3	+	20	2623	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.E761K|GTF2IRD1_uc003uap.3_Missense_Mutation_p.E729K|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E729K	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	744						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E744K(2)		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						CGTGATCATCGAGGGGCTGCC	0.597000														53			13		0	0	0.001855	0	0
CTNND2	1501	broad.mit.edu	37	5	11199635	11199635	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:11199635T>A	uc003jfa.1	-	10	2045	c.1900A>T	c.(1900-1902)Aac>Tac	p.N634Y	CTNND2_uc010itt.2_Missense_Mutation_p.N543Y|CTNND2_uc011cmy.1_Missense_Mutation_p.N297Y|CTNND2_uc011cmz.1_Missense_Mutation_p.N201Y|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.N201Y	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	634					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCACCACAGTTTTTCAGGGCA	0.488000														100			26		0	0	0.005443	0	0
OR6K2	81448	broad.mit.edu	37	1	158670440	158670440	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:158670440C>A	uc001fsu.1	-	0	3	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGGGCTCTCCATCTCCAAGT	0.448000														35			14		0.000422831	0.000463778	0.004007	1	0
PCDH20	64881	broad.mit.edu	37	13	61985654	61985654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:61985654C>T	uc001vid.4	-	1	2942	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	PCDH20_uc010thj.2_Missense_Mutation_p.E860K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	833					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)		ATCTCTGGTTCTTTTCTTAAA	0.408000														22			8		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	8995693	8995693	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:8995693C>T	uc002mkp.3	-	62	41499	c.41295G>A	c.(41293-41295)ggG>ggA	p.G13765G	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.G582G|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13767				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGGGGTCCCAGGAGCTG	0.488000														33			8		0	0	0.006214	0	0
ABCF3	55324	broad.mit.edu	37	3	183908981	183908981	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:183908981C>T	uc003fmz.2	+	15	1640	c.1507C>T	c.(1507-1509)Ccg>Tcg	p.P503S	ABCF3_uc003fna.2_Missense_Mutation_p.P497S|ABCF3_uc003fnb.2_Missense_Mutation_p.P184S	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	503	ABC transporter 2.		P -> L (in dbSNP:rs11706273).				ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACTACGATCCGAAGCACGT	0.552000														56			43		0	0	0.013114	0	0
OTOF	9381	broad.mit.edu	37	2	26699809	26699809	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:26699809C>T	uc002rhk.3	-	21	2753	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	OTOF_uc002rhh.3_Missense_Mutation_p.E129K|OTOF_uc002rhi.3_Missense_Mutation_p.E186K|OTOF_uc002rhj.3_Missense_Mutation_p.E129K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	876					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCCTCCTCCACGATGGAG	0.592000														23			16		0	0	0.004007	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735631	55735631	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:55735631A>T	uc010rit.2	-	0	309	c.309T>A	c.(307-309)tgT>tgA	p.C103*		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAGAAGGAGACACTCCGTGC	0.423000														10			9		0	0	0.006214	0	0
VAV1	7409	broad.mit.edu	37	19	6854108	6854108	+	Splice_Site	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:6854108G>T	uc002mfu.1	+	26	2581	c.2484_splice	c.e26+1	p.R828_splice	VAV1_uc010xjh.1_Splice_Site_p.R796_splice|VAV1_uc010dva.1_Splice_Site_p.R806_splice|VAV1_uc002mfv.1_Splice_Site_p.R773_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	828	SH3 2.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ATCTATGGCCGGGTGAGGCAG	0.627000														34			19		2.35188e-11	2.63696e-11	0.006122	1	0
COL12A1	1303	broad.mit.edu	37	6	75884949	75884949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:75884949C>T	uc021zbv.1	-	11	2550	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.G839R|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	839	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCACTTTTCCTGGTGCCCCA	0.458000														52			36		0	0	0.003755	0	0
IL16	3603	broad.mit.edu	37	15	81578108	81578108	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:81578108G>A	uc021ssh.1	+	8	1370	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.T423T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.T465T|IL16_uc021ssg.1_Silent_p.T423T|IL16_uc002bgg.3_Silent_p.T423T|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	423	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCTACACGATCCTGAGTC	0.517000														103			31		0	0	0.007291	0	0
DGKI	9162	broad.mit.edu	37	7	137282621	137282621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:137282621C>T	uc003vtt.3	-	11	1284	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	DGKI_uc003vtu.3_Missense_Mutation_p.R128Q	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	428	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCCAGAATTCGCAGATTTGG	0.413000														28			5		0	0	0.003080	0	0
LTBP2	4053	broad.mit.edu	37	14	74995673	74995673	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:74995673G>A	uc001xqa.3	-	10	2527	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	714	TB 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.L714L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCCAGGCAGAGGGCATTTC	0.612000														9			7		0	0	0.006214	0	0
SLC47A1	55244	broad.mit.edu	37	17	19445735	19445735	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:19445735C>T	uc002gvx.3	+	1	251	c.165C>T	c.(163-165)atC>atT	p.I55I	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.I55I|SLC47A1_uc010vyz.1_Silent_p.I55I|SLC47A1_uc010cqp.1_Silent_p.I55I	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	55						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGTTCCTGATCAGCTTCATAA	0.582000														41			21		0	0	0.004656	0	0
CCNE1	898	broad.mit.edu	37	19	30314585	30314585	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:30314585C>T	uc002nsn.3	+	11	1317	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	CCNE1_uc002nso.3_Silent_p.A363A	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	378					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CAAAGAAAGCCATGTTGTCTG	0.498000			A		serous ovarian									36			13		0	0	0.001855	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305087	27305087	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:27305087G>A	uc002rii.4	+	3	1147	c.648G>A	c.(646-648)acG>acA	p.T216T	EMILIN1_uc010eyq.2_Silent_p.T216T|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	216					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGAGACGGCCTTCAACG	0.662000														37			17		0	0	0.004007	0	0
TPO	7173	broad.mit.edu	37	2	1437219	1437219	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:1437219G>A	uc002qwr.3	+	3	275	c.189G>A	c.(187-189)aaG>aaA	p.K63K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.K63K|TPO_uc002qww.3_Silent_p.K63K|TPO_uc002qwx.3_Silent_p.K63K|TPO_uc002qwu.3_Silent_p.K63K|TPO_uc010yio.2_Silent_p.K63K|TPO_uc010yip.2_Silent_p.K63K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	63					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAAACCTCAAGAAAAGAGGAA	0.363000														29			10		0	0	0.006214	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657291	34657291	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:34657291G>A	uc001zig.3	-	2	490	c.396C>T	c.(394-396)ttC>ttT	p.F132F	LPCAT4_uc010bav.1_Silent_p.F132F	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	132					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGGGGTCAAAGAAAGTGGAGT	0.567000														35			27		0	0	0.007291	0	0
FAT2	2196	broad.mit.edu	37	5	150925305	150925305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:150925305C>T	uc003lue.4	-	8	5396	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1795	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTAGCTTCTTTGTCACTG	0.408000														41			15		0	0	0.003163	0	0
KCNN2	3781	broad.mit.edu	37	5	113740269	113740269	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:113740269C>T	uc003kqo.3	+	2	1174	c.717C>T	c.(715-717)gcC>gcT	p.A239A		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	239						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A239T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CATGGACGGCCCGGCTTGCCT	0.433000														105			40		0	0	0.014410	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275119	41275119	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:41275119T>G	uc010hia.1	+	9	1441	c.1285T>G	c.(1285-1287)Tgc>Ggc	p.C429G	CTNNB1_uc003ckq.2_Missense_Mutation_p.C429G|CTNNB1_uc003ckp.2_Missense_Mutation_p.C429G|CTNNB1_uc003ckr.2_Missense_Mutation_p.C429G|CTNNB1_uc011azf.1_Missense_Mutation_p.C422G|CTNNB1_uc011azg.1_Missense_Mutation_p.C357G|CTNNB1_uc003cks.3_Missense_Mutation_p.C32G|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	429					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TAACCTCACTTGCAATAATTA	0.473000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					39			34		0	0	0.013726	0	0
RRP1	8568	broad.mit.edu	37	21	45211307	45211307	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:45211307C>T	uc002zds.2	+	1	303	c.210C>T	c.(208-210)ctC>ctT	p.L70L	RRP1_uc011aez.1_Silent_p.L70L|RRP1_uc010gpl.1_5'Flank	NM_003683	NP_003674	P56182	RRP1_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA.	70					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ACAAGCCACTCCTCCAGGTGA	0.522000														3			25		0	0	0.007291	0	0
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:102213947A>T	uc003yka.3	-	2	438	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_uc003ykb.3_Missense_Mutation_p.I8N	NM_001042510	NP_057180	Q9Y5V0	ZN706_HUMAN	Homo sapiens zinc finger protein 706 (ZNF706), transcript variant 1, mRNA.	8						intracellular	zinc ion binding			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393000														34			7		0	0	0.006214	0	0
CENPJ	55835	broad.mit.edu	37	13	25487116	25487116	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:25487116G>A	uc001upt.4	-	1	301	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	16					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTGGGTTAGGAAGTTCTGCC	0.433000														31			17		0	0	0.004007	0	0
BGN	633	broad.mit.edu	37	X	152773842	152773842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:152773842C>T	uc004fhr.2	+	7	1282	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	349						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)					GAGGTGCAGCCGGCCACTTTC	0.622000														45			5		0	0	0.001984	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179538465	179538465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:179538465C>T	uc003mlq.3	-	10	1592	c.1295G>A	c.(1294-1296)aGt>aAt	p.S432N	RASGEF1C_uc003mlr.3_Missense_Mutation_p.S432N|RASGEF1C_uc003mlp.4_Missense_Mutation_p.S281N	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	432	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-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)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCATCCTCACTGAAGATGGG	0.592000														15			25		0	0	0.004656	0	0
NR5A2	2494	broad.mit.edu	37	1	200090021	200090021	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:200090021G>A	uc001gvb.3	+	6	1522	c.1316G>A	c.(1315-1317)cGt>cAt	p.R439H	NR5A2_uc001gvc.3_Missense_Mutation_p.R393H|NR5A2_uc009wzh.3_Missense_Mutation_p.R399H|NR5A2_uc010pph.2_Missense_Mutation_p.R367H	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCAAAACTTCGTTCTCTCCAG	0.438000														38			18		0	0	0.010504	0	0
LCTL	197021	broad.mit.edu	37	15	66857168	66857168	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:66857168C>T	uc002aqc.3	-	1	260	c.128G>A	c.(127-129)tGg>tAg	p.W43*	LCTL_uc002aqd.4_Intron|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	43					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCACGCCCCAGGAGAAGCC	0.657000														56			17		0	0	0.006122	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844842	92844842	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:92844842G>A	uc011khy.2	-	3	679	c.656C>T	c.(655-657)tCc>tTc	p.S219F	HEPACAM2_uc003uml.3_Missense_Mutation_p.S184F|HEPACAM2_uc010lff.3_Missense_Mutation_p.S184F|HEPACAM2_uc003umm.3_Missense_Mutation_p.S196F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	196	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGAGAAAAGGAGTAGGTGGA	0.502000														28			55		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9085016	9085016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9085016G>A	uc002mkp.3	-	0	7003	c.6799C>T	c.(6799-6801)Cca>Tca	p.P2267S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2267	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						GTCTTTTCTGGGAAATGTGAG	0.433000														28			7		0	0	0.001984	0	0
VSX1	30813	broad.mit.edu	37	20	25059464	25059464	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:25059464C>T	uc002wuf.3	-	3	662	c.627_splice	c.e3+1	p.Q209_splice	VSX1_uc002wue.3_Splice_Site|VSX1_uc010gdd.2_Splice_Site_p.Q209_splice|VSX1_uc010gde.2_Splice_Site|VSX1_uc010gdf.2_Splice_Site_p.Q209_splice|VSX1_uc002wug.1_Missense_Mutation_p.V210M	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	209					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACCCCAGACACCTGTATCCGG	0.532000														123			40		0	0	0.007835	0	0
TRIM46	80128	broad.mit.edu	37	1	155149752	155149752	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:155149752G>T	uc001fhs.1	+	4	978	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.V286L|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.V299L|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.V173L|TRIM46_uc001fhu.1_Missense_Mutation_p.V276L|TRIM46_uc009wpg.1_Missense_Mutation_p.V286L|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	299						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGAGGCCGTGAGGCACAC	0.607000														21			40		2.95478e-19	3.39524e-19	0.008740	1	0
C3orf71	646450	broad.mit.edu	37	3	48956273	48956274	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:48956273_48956274CC>TT	uc010hkk.1	-	0	545_546	c.309_310GG>AA	c.(307-312)ccggaa>ccAAaa	p.E104K	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	104						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CCAAGCACTTCCGGAGCTGTGG	0.713000														6			7		0	0	0.004672	0	0
OR1M1	125963	broad.mit.edu	37	19	9204006	9204006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9204006C>T	uc010xkj.2	+	0	86	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCTCTTTTCCCTGTTCTTC	0.517000														33			24		0	0	0.002780	0	0
MRVI1	10335	broad.mit.edu	37	11	10597930	10597930	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:10597930C>T	uc010rcc.1	-	20	3074	c.2688G>A	c.(2686-2688)agG>agA	p.R896R	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.R888R|MRVI1_uc001miw.2_Silent_p.R887R|MRVI1_uc001mix.3_Silent_p.R581R|MRVI1_uc001miz.2_Silent_p.R805R|MRVI1_uc010rcd.1_Silent_p.R690R|MRVI1_uc009ygd.1_Silent_p.R581R	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	869					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCAGGAGTCCCTCTGGGCTG	0.562000														4			20		0	0	0.012319	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656980	46656980	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:46656980C>A	uc003bhh.3	-	0	2240	c.2240G>T	c.(2239-2241)aGc>aTc	p.S747I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	747	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TACCAAAGTGCTTACAGGAAG	0.433000														49			16		2.35188e-11	2.63696e-11	0.006122	1	0
RANBP10	57610	broad.mit.edu	37	16	67763285	67763285	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:67763285G>A	uc002eud.3	-	9	1366	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	RANBP10_uc010ceo.3_Missense_Mutation_p.S188F|RANBP10_uc010vju.2_Missense_Mutation_p.S361F|RANBP10_uc010vjv.2_Missense_Mutation_p.S300F|RANBP10_uc010vjw.1_Missense_Mutation_p.S78F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	417	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggacgaggaggaggaggagga	0.567000														9			7		0	0	0.001984	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378861	92378861	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:92378861G>A	uc003yez.3	+	13	1781	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L	SLC26A7_uc003yex.3_Silent_p.L514L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.L514L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	514	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.F513F(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTTCCTGAATGCAAAAA	0.338000														24			12		0	0	0.010729	0	0
PYGB	5834	broad.mit.edu	37	20	25262702	25262702	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:25262702G>A	uc002wup.3	+	11	1546	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	479					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGCCAGAGAAGTTCCAGAATA	0.567000														37			27		0	0	0.005443	0	0
GABRA6	2559	broad.mit.edu	37	5	161117306	161117307	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161117306_161117307CC>TT	uc003lyu.2	+	6	1111_1112	c.773_774CC>TT	c.(772-774)tcc>tTT	p.S258F	GABRA6_uc003lyv.2_Missense_Mutation_p.S29F	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	258					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCATTCTTTCCCAGGTGTCTT	0.396000										TCGA Ovarian(5;0.080)				53			18		0	0	0.004672	0	0
GPR133	283383	broad.mit.edu	37	12	131487840	131487840	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:131487840C>T	uc010tbm.2	+	10	1792	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	GPR133_uc001uit.4_Silent_p.A379A	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	379					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I410I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTCCTCTGCCATGGCAGGTA	0.597000														42			22		0	0	0.002780	0	0
KNTC1	9735	broad.mit.edu	37	12	123087421	123087421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:123087421C>T	uc001ucv.3	+	46	5034	c.4871C>T	c.(4870-4872)tCg>tTg	p.S1624L	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1624					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.S1624S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTCTTAATTTCGAAATTAATG	0.333000														80			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9086149	9086149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9086149C>T	uc002mkp.3	-	0	5870	c.5666G>A	c.(5665-5667)gGa>gAa	p.G1889E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1889	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M1888I(1)		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						AGTGCTGTTTCCCATAGACAG	0.502000														43			17		0	0	0.004990	0	0
FAM55B	120406	broad.mit.edu	37	11	114569393	114569394	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:114569393_114569394CT>TC	uc009yyy.2	+	2	857_858	c.759_760CT>TC	c.(757-762)ttctac>ttTCac	p.Y254H		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	254						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						AAGAAGCCTTCTACTGTGTGAG	0.465000														9			8		0	0	0.004672	0	0
LILRP2	79166	broad.mit.edu	37	19	55224606	55224606	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:55224606C>T	uc002qgs.1	+	0		c.5006C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGCCTCACACCCCCAGGATTA	0.607000														17			9		0	0	0.006214	0	0
SLC25A35	399512	broad.mit.edu	37	17	8194179	8194179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:8194179G>A	uc002gku.1	-	3	755	c.710C>T	c.(709-711)cCc>cTc	p.P237L	SLC25A35_uc002gkt.3_Missense_Mutation_p.P237L|SLC25A35_uc002gkz.1_Non-coding_Transcript|SLC25A35_uc002gla.4_Missense_Mutation_p.P237L	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	Homo sapiens solute carrier family 25, member 35 (SLC25A35), mRNA.	237					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						TGCATCTGTGGGCTGGTTGTA	0.582000														66			27		0	0	0.007291	0	0
POT1	25913	broad.mit.edu	37	7	124532343	124532343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:124532343G>A	uc003vlm.3	-	5	702	c.101C>T	c.(100-102)cCc>cTc	p.P34L	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	34	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TAGATATGGGGGCTTAAAGAA	0.378000														171			54		0	0	0.014410	0	0
C18orf26	284254	broad.mit.edu	37	18	52265165	52265165	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:52265165C>T	uc002lfq.1	+	2	468	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	141						integral to membrane		p.G140E(1)		endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AACAAAGGATCGGCCAATTCC	0.448000														44			12		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179594552	179594552	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:179594552C>T	uc021vsy.1	-	59	14921	c.14696G>A	c.(14695-14697)gGg>gAg	p.G4899E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1560E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5826	Ig-like 29.						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)			TATTTCATTCCCGTCTAGATA	0.428000														4			31		0	0	0.010818	0	0
MICALCL	84953	broad.mit.edu	37	11	12316208	12316208	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:12316208C>G	uc001mkg.1	+	2	1521	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	410					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTGAGAGTTTCCTCCAAGAAT	0.478000														52			29		0	0	0.009535	0	0
CARD6	84674	broad.mit.edu	37	5	40843796	40843796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:40843796G>A	uc003jmg.3	+	1	901	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	276	Asp/Glu-rich.				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						GGAGGAACAGGAGAAAAGTAT	0.403000														27			7		0	0	0.003080	0	0
CPN1	1369	broad.mit.edu	37	10	101841285	101841285	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:101841285C>T	uc001kql.2	-	0	358	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	33	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.V32M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTACAGCGTCCGCACAAGATC	0.577000														26			9		0	0	0.004482	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661969	3661969	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:3661969G>A	uc002lyj.2	-	3	339	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	PIP5K1C_uc010xhq.2_Nonsense_Mutation_p.Q84*|PIP5K1C_uc010xhr.2_Nonsense_Mutation_p.Q84*	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	84	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATGCCCAGCTGGATGGCACCC	0.662000														13			4		0	0	0.009096	0	0
SLC4A4	8671	broad.mit.edu	37	4	72215630	72215630	+	Splice_Site	SNP	T	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:72215630T>G	uc010iic.3	+	5	507	c.390_splice	c.e5-1	p.R130_splice	SLC4A4_uc003hfy.3_Splice_Site_p.R130_splice|SLC4A4_uc010iib.3_Splice_Site_p.R130_splice|SLC4A4_uc003hfz.3_Splice_Site_p.R130_splice|SLC4A4_uc003hgc.4_Splice_Site_p.R86_splice|SLC4A4_uc003hga.2_Splice_Site_p.R8_splice|SLC4A4_uc003hgb.3_Splice_Site_p.R86_splice	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	130						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCTTCCTAGGTGGATCAAGTT	0.453000														32			13		0	0	0.003163	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767910	77767910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:77767910C>T	uc003yau.2	+	9	9140	c.8753C>T	c.(8752-8754)cCc>cTc	p.P2918L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2873L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2918T(1)		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)			TCCAGCAATCCCTTTAAATCC	0.498000										HNSCC(33;0.089)				13			13		0	0	0.013537	0	0
ULK2	9706	broad.mit.edu	37	17	19744854	19744854	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:19744854T>C	uc002gwm.4	-	8	1161	c.652A>G	c.(652-654)Agt>Ggt	p.S218G	ULK2_uc002gwn.3_Missense_Mutation_p.S218G	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	218	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCTTGAGGACTATTGGCCTAT	0.308000														23			8		0	0	0.003080	0	0
COL25A1	84570	broad.mit.edu	37	4	109753580	109753581	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:109753580_109753581CA>AC	uc021xqo.1	-	30	1721_1722	c.1665_1666TG>GT	c.(1663-1668)gatggt>gaGTgt	p.555_556DG>EC	COL25A1_uc003hze.1_Missense_Mutation_p.555_556DG>EC|COL25A1_uc021xqp.1_Missense_Mutation_p.555_556DG>EC|COL25A1_uc003hzg.3_Missense_Mutation_p.555_556DG>EC|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.352_353DG>EC	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	555						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCATAGGACCATCTGTACCCT	0.406000														13			4		0	0	0.004672	0	0
SEC16B	89866	broad.mit.edu	37	1	177937008	177937008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:177937008G>A	uc001glj.1	-	6	975	c.109C>T	c.(109-111)Cct>Tct	p.P37S	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.P37S|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.P37S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	37	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAAGAGTGAGGGACAGGCCGA	0.617000														36			14		0	0	0.002450	0	0
DCDC2	51473	broad.mit.edu	37	6	24357738	24357738	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:24357738G>A	uc003ndx.3	-	0	543	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	DCDC2_uc003ndy.3_Nonsense_Mutation_p.Q81*|KAAG1_uc003ndz.1_5'UTR	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	81	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration			p.I80M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCCCCGCTCTGGATCTGGTCT	0.612000														30			9		0	0	0.004482	0	0
ATP10D	57205	broad.mit.edu	37	4	47559837	47559837	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:47559837C>T	uc003gxk.1	+	11	2145	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	661					ATP biosynthetic process|cation transport	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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGCAGACTCCCTCTCTTTAG	0.517000														58			16		0	0	0.004007	0	0
CNTN5	53942	broad.mit.edu	37	11	99690398	99690398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:99690398G>A	uc001pga.3	+	3	683	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CNTN5_uc009ywv.2_Missense_Mutation_p.G60E|CNTN5_uc001pfz.3_Missense_Mutation_p.G60E|CNTN5_uc021qpb.1_Missense_Mutation_p.G60E|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	60					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)		CCTTCATTAGGAACACTGAGT	0.433000														20			11		0	0	0.010729	0	0
SLC37A3	84255	broad.mit.edu	37	7	140045771	140045771	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:140045771C>T	uc003vvo.3	-	11	1191	c.1025_splice	c.e11-1	p.G342_splice	SLC37A3_uc003vvp.3_Intron|SLC37A3_uc010lnh.3_Splice_Site_p.G342_splice|SLC37A3_uc011kqz.2_Intron	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	342					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AAAGTTCCACCTTCAAGCAGA	0.517000														26			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9000160	9000160	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9000160G>A	uc002mkp.3	-	54	40801	c.40597C>T	c.(40597-40599)Ctg>Ttg	p.L13533L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L350L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13535	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAAGGTCAGTCTGCAGCCA	0.562000														42			16		0	0	0.006122	0	0
COL1A2	1278	broad.mit.edu	37	7	94059623	94059623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:94059623C>T	uc003ung.1	+	51	4490	c.4019C>T	c.(4018-4020)cCc>cTc	p.P1340L	COL1A2_uc011kib.1_Missense_Mutation_p.P192L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1340	Fibrillar collagen NC1.				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		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)	TCACGCCTGCCCTTCCTTGAT	0.378000										HNSCC(75;0.22)				128			25		0	0	0.004656	0	0
SPG11	80208	broad.mit.edu	37	15	44864950	44864950	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:44864950C>T	uc001ztx.3	-	32	6305	c.6274G>A	c.(6274-6276)Gac>Aac	p.D2092N	SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Missense_Mutation_p.D1979N|SPG11_uc010uei.2_Missense_Mutation_p.D2092N	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2092					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATGTGCGGTCTTGACACAGA	0.448000														62			16		0	0	0.004007	0	0
RNGTT	8732	broad.mit.edu	37	6	89614448	89614448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:89614448C>T	uc003pmr.2	-	5	890	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	RNGTT_uc003pms.2_Missense_Mutation_p.E224K|RNGTT_uc011dzu.1_Missense_Mutation_p.E164K|RNGTT_uc003pmt.2_Missense_Mutation_p.E224K	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	224					interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTAACCGTTCTTTTCTCCTT	0.343000														4			22		0	0	0.005443	0	0
TGM3	7053	broad.mit.edu	37	20	2290440	2290440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:2290440G>A	uc002wfx.4	+	1	242	c.145G>A	c.(145-147)Ggc>Agc	p.G49S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	49					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CAAAGGCCTTGGCTCTAACGA	0.493000														59			24		0	0	0.003330	0	0
NPTN	27020	broad.mit.edu	37	15	73889624	73889624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:73889624G>A	uc002avs.3	-	1	375	c.178C>T	c.(178-180)Cca>Tca	p.P60S	NPTN_uc010bjc.3_Missense_Mutation_p.P60S|NPTN_uc002avt.3_Intron|NPTN_uc002avr.3_Intron|NPTN_uc010ula.2_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	60	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGATCTCTGGCGTGGGGCTC	0.602000														20			15		0	0	0.004007	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122508	17122508	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:17122508C>T	uc002nfb.3	-	3	500	c.468G>A	c.(466-468)gcG>gcA	p.A156A		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	109						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCCCTCCTCCGCCTGCCAGC	0.647000														37			24		0	0	0.014323	0	0
DNAH9	1770	broad.mit.edu	37	17	11666846	11666846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:11666846C>T	uc002gne.3	+	35	7153	c.7085C>T	c.(7084-7086)cCt>cTt	p.P2362L	DNAH9_uc010coo.3_Missense_Mutation_p.P1656L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2362					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)		GAGGACATCCCTGCAGACTGC	0.478000														66			24		0	0	0.003954	0	0
PRPF6	24148	broad.mit.edu	37	20	62658476	62658476	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:62658476A>G	uc002yho.3	+	15	2338	c.2170A>G	c.(2170-2172)Atg>Gtg	p.M724V	PRPF6_uc002yhp.3_Missense_Mutation_p.M684V	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	724					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCAGAAGGAGATGATGGAGAA	0.607000														42			11		0	0	0.010729	0	0
TRMU	55687	broad.mit.edu	37	22	46752874	46752874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:46752874G>A	uc003bhp.3	+	10	1601	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	TRMU_uc003bhq.3_Missense_Mutation_p.D195N|TRMU_uc003bhs.3_3'UTR|TRMU_uc003bhr.3_Missense_Mutation_p.D299N|TRMU_uc003bht.3_Missense_Mutation_p.D266N|TRMU_uc003bhu.3_Missense_Mutation_p.D195N|TRMU_uc003bhv.3_3'UTR	NM_018006	NP_060476	O75648	MTU1_HUMAN	Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	413						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CAGCCCAGAAGATGGTCCAGG	0.637000														34			12		0	0	0.013537	0	0
EPB41L1	2036	broad.mit.edu	37	20	34802335	34802335	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:34802335C>T	uc010gfq.3	+	6	2898	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	EPB41L1_uc002xeu.3_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.3_Silent_p.I746I|EPB41L1_uc002xew.3_Silent_p.I638I|EPB41L1_uc002xex.3_Silent_p.I567I|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Intron|EPB41L1_uc002xfb.3_Silent_p.I747I	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	747	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCCTCCATCACCACGGAGA	0.572000														11			7		0	0	0.003080	0	0
ZNF57	126295	broad.mit.edu	37	19	2917840	2917840	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:2917840C>T	uc002lwr.3	+	3	1369	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	ZNF57_uc010xha.2_Silent_p.F375F	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGATCATTCCGAGGTCATT	0.433000														38			33		0	0	0.012213	0	0
EDN1	1906	broad.mit.edu	37	6	12294286	12294286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:12294286G>A	uc003nae.4	+	2	680	c.346G>A	c.(346-348)Gac>Aac	p.D116N	EDN1_uc003nad.3_Missense_Mutation_p.D116N|EDN1_uc003naf.4_Missense_Mutation_p.D115N	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	116	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TAGCCAAAAAGACAAGAAGTG	0.448000														20			8		0	0	0.006214	0	0
CWH43	80157	broad.mit.edu	37	4	49046862	49046862	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:49046862C>T	uc003gyv.3	+	13	2045	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CWH43_uc011bzl.2_Silent_p.I594I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	621	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGGGCTGATCAGGTGAGCAC	0.353000														38			23		0	0	0.003954	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902798	4902798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:4902798C>T	uc002mbm.3	-	0	82	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	28					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TAGATTCTATCCTCGGGCAGC	0.552000														82			26		0	0	0.003330	0	0
NLRP3	114548	broad.mit.edu	37	1	247592992	247592992	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:247592992G>A	uc001icr.3	+	5	2400	c.2262G>A	c.(2260-2262)ggG>ggA	p.G754G	NLRP3_uc001ics.3_Silent_p.G754G|NLRP3_uc001icu.3_Silent_p.G754G|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Silent_p.G752G	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	754					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATTCTCTGGGGGACCCAGGGA	0.522000														25			38		0	0	0.005524	0	0
SPACA7	122258	broad.mit.edu	37	13	113086757	113086757	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:113086757G>A	uc001vsd.2	+	6	495	c.446_splice	c.e6-1	p.E149_splice		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	149						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TTTCCCCACAGAAAAGAATTC	0.348000														35			14		0	0	0.004007	0	0
GDF10	2662	broad.mit.edu	37	10	48429148	48429148	+	Silent	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:48429148G>T	uc001jfb.3	-	1	1166	c.738C>A	c.(736-738)gtC>gtA	p.V246V	GDF10_uc009xnp.3_Silent_p.V245V|GDF10_uc009xnq.2_Silent_p.V246V	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	246					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGTTGGCATAGACTAGGATGT	0.692000														11			46		6.07928e-31	7.01455e-31	0.009718	1	0
FERMT1	55612	broad.mit.edu	37	20	6100139	6100139	+	Silent	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:6100139G>T	uc002wmr.3	-	1	852	c.63C>A	c.(61-63)ccC>ccA	p.P21P	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Silent_p.P21P	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	21					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTCTTCATTGGGATGGTCAA	0.468000														18			11		2.80697e-09	3.12825e-09	0.010729	1	0
KATNAL2	83473	broad.mit.edu	37	18	44625668	44625669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:44625668_44625669CC>TT	uc002lco.3	+	12	1244_1245	c.1050_1051CC>TT	c.(1048-1053)ctcccc>ctTTcc	p.P351S		NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	423						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGTCGATCTCCCCAGCCGGGA	0.589000														46			14		0	0	0.004672	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														20			3		0	0	0.009096	0	0
RYR1	6261	broad.mit.edu	37	19	38997004	38997004	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:38997004C>T	uc002oit.3	+	54	8733	c.8603C>T	c.(8602-8604)tCc>tTc	p.S2868F	RYR1_uc002oiu.3_Missense_Mutation_p.S2868F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2868	6 X approximate repeats.				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)	GTTACCCTGTCCCGGGAGCTG	0.592000														37			4		0	0	0.009096	0	0
BICD1	636	broad.mit.edu	37	12	32481425	32481425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:32481425C>T	uc001rku.3	+	4	2117	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	BICD1_uc001rkv.3_Missense_Mutation_p.S679F|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	679	Interacts with RAB6A.				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAGCTAAAGTCCCTGCTGAGC	0.507000														35			18		0	0	0.004990	0	0
ENOSF1	55556	broad.mit.edu	37	18	691213	691213	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:691213C>T	uc010dkf.3	-	5	561	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ENOSF1_uc002kku.4_Missense_Mutation_p.D163N|ENOSF1_uc002kkt.4_Missense_Mutation_p.D81N|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Intron|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	163					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTAGGGCATCCTCCTCAGTC	0.483000														59			23		0	0	0.014323	0	0
NDNL2	56160	broad.mit.edu	37	15	29561137	29561137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:29561137G>A	uc001zco.3	-	0	884	c.773C>T	c.(772-774)aCc>aTc	p.T258I	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	258	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CATCTTGCTGGTTTCCAGGTT	0.552000														68			42		0	0	0.013114	0	0
SNX14	57231	broad.mit.edu	37	6	86238080	86238080	+	Splice_Site	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:86238080C>A	uc003pkr.3	-	20	2088	c.1895_splice	c.e20-1	p.G632_splice	SNX14_uc003pkp.3_Splice_Site_p.G495_splice|SNX14_uc003pkq.3_Splice_Site_p.G238_splice|SNX14_uc011dzg.2_Splice_Site_p.G580_splice|SNX14_uc003pks.3_Splice_Site_p.G579_splice|SNX14_uc003pkt.3_Splice_Site_p.G623_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	632	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGGAAATGCACCTGAAATTAG	0.323000														3			44		4.17593e-13	4.72025e-13	0.007835	1	0
SLC16A1	6566	broad.mit.edu	37	1	113460027	113460027	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:113460027G>A	uc001ecx.3	-	3	1833	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SLC16A1_uc001ecy.3_Missense_Mutation_p.A334V|SLC16A1_uc001ecz.3_Missense_Mutation_p.A334V	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	334					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AACGGAAGCCGCAAAGAAATA	0.443000														10			9		0	0	0.008291	0	0
CDCP1	64866	broad.mit.edu	37	3	45127559	45127559	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:45127559C>T	uc003com.3	-	9	2217	c.2082_splice	c.e9-1	p.K694_splice		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	694						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTTCTTTTTCCTATTTGGAA	0.448000														47			24		0	0	0.002780	0	0
DSC3	1825	broad.mit.edu	37	18	28588455	28588455	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:28588455C>T	uc002kwj.4	-	9	1455	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	DSC3_uc002kwi.4_Missense_Mutation_p.E434K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	434	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACTCCAATTTCCAGGTTCACT	0.398000														31			12		0	0	0.013537	0	0
NONO	4841	broad.mit.edu	37	X	70516739	70516739	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:70516739C>T	uc004dzo.3	+	7	1495	c.785C>T	c.(784-786)tCc>tTc	p.S262F	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.S262F|NONO_uc004dzp.3_Missense_Mutation_p.S262F|NONO_uc011mpv.2_Missense_Mutation_p.S173F|NONO_uc004dzq.3_Missense_Mutation_p.S131F	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	262	DBHS.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CAGCCTGGCTCCTTTGAGTAT	0.502000			T	TFE3	papillary renal cancer									16			15		0	0	0.004007	0	0
GPR101	83550	broad.mit.edu	37	X	136113174	136113174	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:136113174C>T	uc011mwh.2	-	0	660	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CATGCTGCCTCCGGGCTGCAC	0.537000														36			22		0	0	0.012319	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602567	18602567	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:18602567C>T	uc002dfg.3	+	7	965	c.765C>T	c.(763-765)ctC>ctT	p.L255L	ABCC6P1_uc010vam.2_Silent_p.L198L					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		CTACCTTCCTCCTGGGGACCC	0.597000														33			27		0	0	0.006320	0	0
DNAH5	1767	broad.mit.edu	37	5	13809266	13809266	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:13809266G>T	uc003jfd.2	-	45	7681	c.7639C>A	c.(7639-7641)Cag>Aag	p.Q2547K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2547					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)					AGGTATTCCTGGGTACGCGTG	0.448000									Kartagener syndrome					81			29		5.45727e-16	6.23207e-16	0.008361	1	0
CHAC1	79094	broad.mit.edu	37	15	41247709	41247709	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:41247709C>T	uc001znh.2	+	2	552	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	CHAC1_uc010uct.1_Intron	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA.	178					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCTCCTGACCAACCACTGAA	0.592000														137			40		0	0	0.008740	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656931	46656931	+	Silent	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:46656931G>T	uc003bhh.3	-	0	2289	c.2289C>A	c.(2287-2289)acC>acA	p.T763T		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	763	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGGTTTCTGGGTTAATTTGG	0.433000														38			21		2.27731e-05	2.51273e-05	0.012319	1	0
STK32A	202374	broad.mit.edu	37	5	146752852	146752852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:146752852C>T	uc011dbw.1	+	9	1178	c.898C>T	c.(898-900)Cct>Tct	p.P300S	STK32A_uc003lom.2_Missense_Mutation_p.P300S|STK32A_uc010jgn.1_Missense_Mutation_p.P300S	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	300							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTTCATTCCTAATGTGAG	0.413000														24			20		0	0	0.007413	0	0
SNTG1	54212	broad.mit.edu	37	8	51442761	51442761	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:51442761G>A	uc010lxy.1	+	10	862	c.491G>A	c.(490-492)gGc>gAc	p.G164D	SNTG1_uc003xqs.1_Missense_Mutation_p.G164D|SNTG1_uc010lxz.1_Missense_Mutation_p.G164D|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	164					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGAGCAGTGGCACCTCCTCT	0.448000														43			13		0	0	0.001855	0	0
CSF1R	1436	broad.mit.edu	37	5	149441394	149441394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:149441394G>A	uc003lrl.3	-	10	1840	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	CSF1R_uc011dcd.2_Missense_Mutation_p.R401C|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.R549C	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	549					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.R549C(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATCTTCCAGCGGACCTGGTAC	0.577000														78			30		0	0	0.003755	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735192	43735192	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:43735192G>A	uc003bdt.2	-	1	265	c.138C>T	c.(136-138)atC>atT	p.I46I	SCUBE1_uc003bdu.2_Silent_p.I46I	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	46	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGATGGCATCGATGTGGCAGT	0.597000														38			19		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179537145	179537145	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:179537145G>A	uc021vsy.1	-	148	31241	c.31016C>T	c.(31015-31017)cCc>cTc	p.P10339L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P7000L|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11266	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGCTGGGGGAACAGCTTC	0.343000														17			134		0	0	0.014410	0	0
SERPINA3	12	broad.mit.edu	37	14	95081101	95081101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:95081101C>T	uc001ydp.3	+	1	482	c.323C>T	c.(322-324)aCg>aTg	p.T108M	SERPINA3_uc001ydo.4_Missense_Mutation_p.T133M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.T108M|SERPINA3_uc001yds.3_Missense_Mutation_p.T108M	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	108					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	p.T108M(2)		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)		TTCAACCTCACGGAGACTTCT	0.552000														21			20		0	0	0.010504	0	0
DTX2	113878	broad.mit.edu	37	7	76126703	76126703	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:76126703C>T	uc011kgk.1	+	4	1138	c.786C>T	c.(784-786)agC>agT	p.S262S	DTX2_uc003uff.4_Silent_p.S353S|DTX2_uc003ufg.4_Silent_p.S353S|DTX2_uc003ufh.4_Silent_p.S353S|DTX2_uc003ufj.4_Intron|DTX2_uc003ufk.4_Intron|DTX2_uc003ufl.1_Silent_p.S16S|DTX2_uc003ufm.4_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	353					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGTGTCTTAGCCGCGCACCCC	0.552000														121			9		0	0	0.006122	0	0
GRIK4	2900	broad.mit.edu	37	11	120702653	120702653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:120702653C>T	uc001pxn.2	+	6	891	c.604C>T	c.(604-606)Ccg>Tcg	p.P202S	GRIK4_uc009zav.1_Missense_Mutation_p.P202S|GRIK4_uc009zaw.1_Missense_Mutation_p.P202S|GRIK4_uc009zax.1_Missense_Mutation_p.P202S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	202					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGACCCCACCCCGCTCCTCAA	0.607000														3			37		0	0	0.004289	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412575	19412575	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:19412575C>T	uc010tcj.1	-	0		c.33535G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCACATTTTCACTGTGTTTA	0.343000														27			12		0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13830726	13830726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:13830726C>T	uc003jfd.2	-	35	6083	c.6041G>A	c.(6040-6042)gGa>gAa	p.G2014E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2014	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G2014*(1)		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)					CCGTCCAAGTCCTCGGAAATC	0.413000									Kartagener syndrome					51			11		0	0	0.002450	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261913	23261913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:23261913G>A	uc001yvh.1	+	10	1324	c.782G>A	c.(781-783)aGg>aAg	p.R261K	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						CAAGAAGAGAGGATTCGGGAG	0.567000														12			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9089699	9089699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9089699G>A	uc002mkp.3	-	0	2320	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	706	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						GAAGAGAAGGGATGTCTAGTG	0.478000														47			32		0	0	0.010818	0	0
COL19A1	1310	broad.mit.edu	37	6	70886412	70886412	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:70886412G>A	uc003pfc.1	+	42	2740	c.2623_splice	c.e42-1	p.G875_splice		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	875	Triple-helical region 5 (COL5).				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						ATCCCAACAGGGAGATCGAGG	0.383000														2			15		0	0	0.004007	0	0
DSC2	1824	broad.mit.edu	37	18	28651688	28651688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:28651688C>T	uc002kwl.4	-	12	2462	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	DSC2_uc002kwk.4_Missense_Mutation_p.D670N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	670	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTAATGCAGTCACACAGTGTA	0.443000														8			4		0	0	0.009096	0	0
FRRS1	391059	broad.mit.edu	37	1	100185185	100185185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:100185185G>A	uc001dsh.1	-	9	1627	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	342	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGGTTGCTGAGAGTGCTTGTA	0.368000														23			11		0	0	0.013537	0	0
GGT5	2687	broad.mit.edu	37	22	24628100	24628100	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:24628100C>T	uc002zzp.4	-	4	1090	c.673G>A	c.(673-675)Gag>Aag	p.E225K	GGT5_uc002zzo.4_Missense_Mutation_p.E225K|GGT5_uc002zzr.4_Missense_Mutation_p.E193K|GGT5_uc002zzq.4_Missense_Mutation_p.E193K|GGT5_uc011ajm.2_Missense_Mutation_p.E148K|GGT5_uc011ajn.1_Intron	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	225					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GCCACGGTCTCCAGGGTGGTG	0.657000														7			4		0	0	0.009096	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060094	116060094	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:116060094G>A	uc001lbn.3	-	14	2117	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	AFAP1L2_uc001lbo.3_Missense_Mutation_p.P606S|AFAP1L2_uc010qse.2_Missense_Mutation_p.P659S|AFAP1L2_uc001lbp.3_Missense_Mutation_p.P634S|AFAP1L2_uc001lbr.1_Missense_Mutation_p.P605S|AFAP1L2_uc001lbm.3_Missense_Mutation_p.P45S|AFAP1L2_uc010qsd.2_Missense_Mutation_p.P172S|AFAP1L2_uc001lbq.1_Missense_Mutation_p.P128S	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	606					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCAGGGAAGGATCCTCTGGC	0.607000														66			41		0	0	0.011902	0	0
SCN11A	11280	broad.mit.edu	37	3	38962579	38962579	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:38962579G>A	uc021wvy.1	-	5	1079	c.880C>T	c.(880-882)Ccg>Tcg	p.P294S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	294					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P294L(1)|p.P294P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAAGCTTCCGGGTTACTGATA	0.443000														97			70		0	0	0.014410	0	0
SCN3A	6328	broad.mit.edu	37	2	165956896	165956896	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:165956896G>A	uc002ucx.3	-	21	4374	c.3882C>T	c.(3880-3882)taC>taT	p.Y1294Y	SCN3A_uc002ucy.3_Silent_p.Y1245Y|SCN3A_uc002ucz.3_Silent_p.Y1245Y|SCN3A_uc002uda.1_Silent_p.Y1114Y|SCN3A_uc002udb.1_Silent_p.Y1114Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1294						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGAGTTCTGAGTAGCCAAGAG	0.393000														6			36		0	0	0.013726	0	0
OR51G2	81282	broad.mit.edu	37	11	4936236	4936236	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:4936236G>A	uc001lzr.1	-	0	658	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGAGAAGAGGATGAGCAGT	0.517000														18			9		0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884239	228884239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:228884239C>T	uc002vpq.2	-	6	1378	c.1331G>A	c.(1330-1332)tGg>tAg	p.W444*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.W444*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.W444*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	444						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGCTCATTCCATGACCGAGA	0.507000														67			22		0	0	0.002780	0	0
TMTC3	160418	broad.mit.edu	37	12	88566441	88566441	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:88566441T>C	uc001tau.3	+	7	1338	c.1118T>C	c.(1117-1119)gTt>gCt	p.V373A	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	373						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GGATTTGTTGTTGCCGAGCGA	0.343000														55			23		0	0	0.006320	0	0
MECOM	2122	broad.mit.edu	37	3	168833184	168833184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:168833184C>T	uc011bpj.1	-	7	2879	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N	MECOM_uc010hwk.1_Missense_Mutation_p.D661N|MECOM_uc003ffj.3_Missense_Mutation_p.D703N|MECOM_uc003ffi.3_Missense_Mutation_p.D638N|MECOM_uc011bpi.1_Missense_Mutation_p.D639N|MECOM_uc003ffn.3_Missense_Mutation_p.D638N|MECOM_uc003ffk.2_Missense_Mutation_p.D638N|MECOM_uc003ffl.2_Missense_Mutation_p.D798N|MECOM_uc011bpk.1_Missense_Mutation_p.D638N|MECOM_uc010hwn.2_Missense_Mutation_p.D826N	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						TAAATAGGGTCCATAAAGAAA	0.423000														15			11		0	0	0.008291	0	0
OR8H2	390151	broad.mit.edu	37	11	55872986	55872986	+	Silent	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:55872986C>A	uc010riy.2	+	0	468	c.468C>A	c.(466-468)tcC>tcA	p.S156S		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTATAGACTCCTTTGTCAACG	0.443000										HNSCC(53;0.14)				48			36		6.84511e-11	7.65935e-11	0.003271	1	0
VSIG10	54621	broad.mit.edu	37	12	118520090	118520090	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:118520090G>A	uc001tws.3	-	2	840	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	169	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGAATTCAGGGCCTGGAACCA	0.562000														52			21		0	0	0.002780	0	0
SEC24A	10802	broad.mit.edu	37	5	134044530	134044530	+	Silent	SNP	T	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:134044530T>C	uc003kzs.3	+	17	2971	c.2679T>C	c.(2677-2679)ccT>ccC	p.P893P	SEC24A_uc011cxu.2_Silent_p.P657P	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	893					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATGGTTCCTTTTTCTTTGC	0.458000														71			3		0	0	0.004672	0	0
PDZD2	23037	broad.mit.edu	37	5	32088673	32088673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:32088673G>A	uc003jhl.3	+	19	5507	c.5119G>A	c.(5119-5121)Gaa>Aaa	p.E1707K	PDZD2_uc003jhm.3_Missense_Mutation_p.E1707K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1707					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAGCCATGGAAAACAGTCC	0.512000														51			12		0	0	0.010729	0	0
FCN2	2220	broad.mit.edu	37	9	137779165	137779165	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:137779165G>A	uc004cfg.1	+	7	856	c.846G>A	c.(844-846)ggG>ggA	p.G282G	FCN2_uc004cfh.1_Silent_p.G244G	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	282	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACCTCAGGGGGACTCATGGCA	0.483000														25			14		0	0	0.001855	0	0
OR2C1	4993	broad.mit.edu	37	16	3406485	3406485	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:3406485C>T	uc002cuw.1	+	0	597	c.545C>T	c.(544-546)cCt>cTt	p.P182L		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCGAGGTGCCTGCCATGATC	0.567000														30			19		0	0	0.008871	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704610	29704611	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:29704610_29704611CC>TT	uc003afa.1	+	1	714_715	c.515_516CC>TT	c.(514-516)ccc>cTT	p.P172L	GAS2L1_uc010gvm.1_Missense_Mutation_p.P172L|GAS2L1_uc003afb.1_Missense_Mutation_p.P172L|GAS2L1_uc003afc.1_Missense_Mutation_p.P172L|GAS2L1_uc003afd.1_Missense_Mutation_p.P172L|GAS2L1_uc003afe.1_Missense_Mutation_p.P172L	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	172					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGTGCTGCACCCCCAGCCCCCA	0.733000														9			4		0	0	0.004672	0	0
NLRP9	338321	broad.mit.edu	37	19	56241295	56241295	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:56241295G>A	uc002qly.3	-	2	1924	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	632						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTAAAATCTGGAAGTTCTTGT	0.443000														71			20		0	0	0.008871	0	0
ZNF808	388558	broad.mit.edu	37	19	53058233	53058233	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:53058233C>T	uc010epq.1	+	4	2241	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAAGGCTTTCGTGTGTCGTT	0.423000														152			37		0	0	0.008740	0	0
CKMT2	1160	broad.mit.edu	37	5	80548642	80548642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:80548642G>A	uc003khc.4	+	3	523	c.281G>A	c.(280-282)gGa>gAa	p.G94E	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.G94E|CKMT2_uc003khd.4_Missense_Mutation_p.G94E|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.	94	Phosphagen kinase N-terminal.				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)	ATCCAGACTGGAGTGGACAAC	0.567000														24			38		0	0	0.004878	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595757	120595757	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:120595757G>A	uc001txo.3	-	25	2996	c.2983C>T	c.(2983-2985)Cac>Tac	p.H995Y	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	995					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCACTGTGGTGGGGCATC	0.612000														38			15		0	0	0.003163	0	0
PADI4	23569	broad.mit.edu	37	1	17681061	17681061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:17681061C>T	uc001baj.2	+	10	1217	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	397					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCGAGGGCCCCAAACAGGGGG	0.572000														39			26		0	0	0.005443	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000														129			5		0	0	0.001984	0	0
LPO	4025	broad.mit.edu	37	17	56344883	56344883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:56344883C>T	uc002ivt.3	+	11	2183	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	LPO_uc010wns.2_Missense_Mutation_p.R564W|LPO_uc010dcp.3_Missense_Mutation_p.R540W|LPO_uc010dcq.3_Missense_Mutation_p.R294W|LPO_uc010dcr.3_Missense_Mutation_p.R186W	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	623					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G622G(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAAAGGGGTCGGGTGGGGCC	0.617000														29			9		0	0	0.006214	0	0
PRB1	5542	broad.mit.edu	37	12	11506712	11506712	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:11506712G>T	uc001qzw.1	-	2	362	c.325C>A	c.(325-327)Caa>Aaa	p.Q109K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	109	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region		p.G109R(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGGGGCTGGTTA	0.612000														291			43		8.28887e-21	9.54423e-21	0.014410	1	0
RARRES2	5919	broad.mit.edu	37	7	150037540	150037540	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:150037540C>T	uc003wha.3	-	1	276	c.159G>A	c.(157-159)gaG>gaA	p.E53E		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	53					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACGGCGCTCTCCACACTGG	0.677000														13			5		0	0	0.001168	0	0
ZNF556	80032	broad.mit.edu	37	19	2877596	2877596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:2877596C>T	uc002lwp.1	+	3	727	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	ZNF556_uc002lwq.3_Missense_Mutation_p.R213C	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATTTCTTCGTTCCCACTC	0.498000														40			27		0	0	0.007291	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465457	77465457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:77465457G>A	uc002ffc.4	-	2	649	c.230C>T	c.(229-231)tCa>tTa	p.S77L	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	77					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AATGTCGTGTGAAATATATGA	0.488000														75			71		0	0	0.014410	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844536	40844536	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:40844536C>T	uc002iay.3	+	16	2766	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	850	Laminin G-like 3.				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)		ATGTGGTCTTCGCCTTTGATG	0.517000														52			26		0	0	0.007291	0	0
POLR3A	11128	broad.mit.edu	37	10	79762058	79762058	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:79762058G>A	uc001jzn.3	-	16	2389	c.2256C>T	c.(2254-2256)atC>atT	p.I752I		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	752					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTCCTTCAGGATCAGTGCCT	0.507000														4			4		0	0	0.009096	0	0
DNAH6	1768	broad.mit.edu	37	2	84800642	84800642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:84800642G>A	uc010fgb.3	+	11	1992	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	DNAH6_uc002soo.3_Missense_Mutation_p.E198K|DNAH6_uc002sop.3_Missense_Mutation_p.E198K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGCTACCTTTGAAAAGTTCCA	0.343000														42			15		0	0	0.002450	0	0
HIF3A	64344	broad.mit.edu	37	19	46834510	46834510	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:46834510C>T	uc002peh.3	+	12	1841	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	HIF3A_uc002peg.4_Silent_p.L604L|HIF3A_uc021uwf.1_Silent_p.L548L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Silent_p.L535L|HIF3A_uc002pel.3_Silent_p.L602L|HIF3A_uc010xxz.2_Silent_p.L553L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CGAAAACTTTCTGCTCTTTCC	0.537000														47			9		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9057771	9057771	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9057771G>T	uc002mkp.3	-	2	29879	c.29675C>A	c.(29674-29676)aCa>aAa	p.T9892K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9894	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						ACTTGTTTCTGTGATTGAGGT	0.473000														106			32		2.85442e-18	3.27314e-18	0.010818	1	0
HIPK1	204851	broad.mit.edu	37	1	114483892	114483892	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:114483892T>G	uc001eem.3	+	1	1048	c.887T>G	c.(886-888)tTg>tGg	p.L296W	HIPK1_uc001eel.3_Missense_Mutation_p.L296W|HIPK1_uc001een.3_Missense_Mutation_p.L296W	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	296	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		AGACCAATCTTGCAGCAGGTG	0.453000														30			17		0	0	0.004990	0	0
NRIP1	8204	broad.mit.edu	37	21	16339196	16339196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:16339196G>A	uc021whl.1	-	0	1318	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	NRIP1_uc002yjx.2_Missense_Mutation_p.P440S	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	440	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGTCTATGGGAACACAGTTG	0.393000														32			29		0	0	0.007291	0	0
CACNA2D1	781	broad.mit.edu	37	7	81626554	81626554	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:81626554G>T	uc003uhr.1	-	18	1859	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	554	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACTGGCTCCTGAGATTTGGGG	0.343000														99			32		1.90571e-15	2.16735e-15	0.004289	1	0
LCE5A	254910	broad.mit.edu	37	1	152484047	152484047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:152484047C>T	uc021oyx.1	+	0	37	c.37C>T	c.(37-39)Cct>Tct	p.P13S	LCE5A_uc001ezy.3_Missense_Mutation_p.P13S|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	13	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCAGCCTCCTCCCAAATG	0.537000														23			13		0	0	0.004007	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5369270	5369270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrY:5369270G>A	uc004fqo.3	+	2	4036	c.3302G>A	c.(3301-3303)gGg>gAg	p.G1101E		NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1101					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CGCACTGAAGGGGATGGCAAC	0.498000														1			10		0	0	0.002450	0	0
ABCC9	10060	broad.mit.edu	37	12	22069901	22069901	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:22069901C>T	uc001rfh.3	-	3	563	c.543G>A	c.(541-543)atG>atA	p.M181I	ABCC9_uc001rfi.1_Missense_Mutation_p.M181I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	181					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTCCACAGCCATCAAGAGCC	0.408000														122			38		0	0	0.006999	0	0
NRSN1	140767	broad.mit.edu	37	6	24145856	24145856	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:24145856C>T	uc010jpq.1	+	3	507	c.270C>T	c.(268-270)atC>atT	p.I90I		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	90					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCCAAAATCGAAGCATTTG	0.488000														53			21		0	0	0.012319	0	0
LTBP2	4053	broad.mit.edu	37	14	74971851	74971851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:74971851C>T	uc001xqa.3	-	28	4591	c.4204G>A	c.(4204-4206)Ggg>Agg	p.G1402R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1402					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCATGGTCCCCCGTTGGGGCC	0.597000														29			9		0	0	0.006214	0	0
CCDC157	550631	broad.mit.edu	37	22	30766769	30766769	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:30766769C>T	uc011aku.2	+	4	1535	c.875C>T	c.(874-876)gCc>gTc	p.A292V	CCDC157_uc011akv.2_Missense_Mutation_p.A292V	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	292										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CATGTGGAGGCCCTCAGGGCC	0.677000														20			11		0	0	0.013537	0	0
FUT9	10690	broad.mit.edu	37	6	96651671	96651671	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:96651671G>A	uc003pop.4	+	2	981	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	FUT9_uc021zcw.1_Missense_Mutation_p.E214K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	214					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAAAGCATTGAAATCCATAC	0.373000														4			19		0	0	0.007413	0	0
GRIA2	2891	broad.mit.edu	37	4	158142819	158142819	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:158142819G>A	uc003ipm.4	+	2	548	c.89_splice	c.e2-1	p.G30_splice	GRIA2_uc011cit.2_Splice_Site|GRIA2_uc021xtr.1_Splice_Site_p.G30_splice|GRIA2_uc003ipl.4_Splice_Site_p.G30_splice|GRIA2_uc003ipk.4_Splice_Site|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	30					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTCTTTGCAGGGGGGCTATTT	0.532000														52			22		0	0	0.002780	0	0
DNAH1	25981	broad.mit.edu	37	3	52380754	52380754	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:52380754C>T	uc011bef.2	+	10	2184	c.1923C>T	c.(1921-1923)gtC>gtT	p.V641V	DNAH1_uc003ddt.1_Silent_p.V641V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	641	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGACATGGTCTGGGGTGACG	0.597000														3			6		0	0	0.001984	0	0
LHX8	431707	broad.mit.edu	37	1	75608911	75608911	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:75608911C>T	uc001dgo.3	+	5	1162	c.498C>T	c.(496-498)tcC>tcT	p.S166S	LHX8_uc021oou.1_Silent_p.S166S|LHX8_uc001dgq.3_Silent_p.S105S	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	166	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTGCTTTTCCTGCAAAAGGC	0.478000														53			22		0	0	0.010504	0	0
OR2G2	81470	broad.mit.edu	37	1	247752556	247752556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:247752556G>A	uc010pyy.2	+	0	895	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			GAGGATCAAGGAGGTGAAAGG	0.378000														56			71		0	0	0.014410	0	0
MYOM3	127294	broad.mit.edu	37	1	24408647	24408647	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:24408647G>A	uc001bin.4	-	17	2287	c.2124C>T	c.(2122-2124)ctC>ctT	p.L708L	MYOM3_uc001bim.4_Silent_p.L365L|MYOM3_uc001bio.3_Silent_p.L708L|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	708	Fibronectin type-III 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGCAGTTCAGGAGGGCAAAGC	0.597000														7			11		0	0	0.008291	0	0
UTRN	7402	broad.mit.edu	37	6	144780119	144780119	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:144780119C>T	uc003qkt.3	+	18	2590	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	UTRN_uc010khq.1_Missense_Mutation_p.S833F	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	833	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCCGGCAGTCCTTGCCAAGC	0.453000														18			11		0	0	0.010729	0	0
MYO3A	53904	broad.mit.edu	37	10	26305800	26305800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:26305800G>A	uc001isn.2	+	6	920	c.560G>A	c.(559-561)gGa>gAa	p.G187E	MYO3A_uc009xko.1_Missense_Mutation_p.G187E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G187E|MYO3A_uc001ism.2_Missense_Mutation_p.G187E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	187	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACATCCGTAGGAACACCGTTT	0.433000														23			15		0	0	0.004990	0	0
MYCT1	80177	broad.mit.edu	37	6	153019124	153019124	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:153019124C>T	uc003qpc.4	+	0	95	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	29						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGCTTTTTTTCGACATACTGG	0.328000														11			12		0	0	0.010729	0	0
CCR10	2826	broad.mit.edu	37	17	40831617	40831617	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:40831617G>A	uc002iax.4	-	1	1047	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc002iaw.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	348						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGCTGAGCAGGAAGAAAggcg	0.697000														32			15		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9061464	9061464	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9061464G>A	uc002mkp.3	-	2	26186	c.25982C>T	c.(25981-25983)tCc>tTc	p.S8661F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8663	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						CAAAACAGAGGAAGGGGATAG	0.453000														63			14		0	0	0.002450	0	0
NLGN3	54413	broad.mit.edu	37	X	70389910	70389910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:70389910C>T	uc004dzd.2	+	7	2844	c.2510C>T	c.(2509-2511)aCc>aTc	p.T837I	NLGN3_uc004dzb.3_Missense_Mutation_p.T817I|NLGN3_uc011mps.2_Missense_Mutation_p.T797I|NLGN3_uc004dzc.3_Missense_Mutation_p.T700I|NLGN3_uc004dze.3_Missense_Mutation_p.T635I	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	837					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TTCAACAGTACCGGGCTGCCC	0.577000														9			8		0	0	0.006214	0	0
TMC3	342125	broad.mit.edu	37	15	81636306	81636306	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:81636306G>A	uc021ssk.1	-	13	1599	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TMC3_uc021ssj.1_Silent_p.F533F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.F533F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	533						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGTACCGCACGAAAAGTCCTC	0.473000														27			4		0	0	0.009096	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12920100	12920100	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:12920100C>T	uc001aum.1	+	2	927	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	280										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTTCAGTGGGCACC	0.458000														64			35		0	0	0.004289	0	0
OR51A4	401666	broad.mit.edu	37	11	4967853	4967853	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:4967853G>A	uc010qys.2	-	0	478	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGGAAGGGAAGAACCAGG	0.438000														145			41		0	0	0.008740	0	0
SCAF4	57466	broad.mit.edu	37	21	33068918	33068918	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:33068918G>A	uc002ypd.2	-	7	1349	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SCAF4_uc002ype.2_Missense_Mutation_p.P308L|SCAF4_uc010glu.2_Missense_Mutation_p.P293L|SCAF4_uc002ypf.1_5'UTR	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	308	Poly-Ala.					nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCAGCAGCGGGTGCAGCAGC	0.517000														3			29		0	0	0.009535	0	0
KDM6B	23135	broad.mit.edu	37	17	7755504	7755504	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:7755504A>G	uc002gix.3	+	8	3061	c.2224A>G	c.(2224-2226)Atc>Gtc	p.I742V	KDM6B_uc002giw.1_Missense_Mutation_p.I1440V|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1440	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGTGGCCAATCCTGGATGA	0.622000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			24		0	0	0.002780	0	0
CPNE4	131034	broad.mit.edu	37	3	131268915	131268915	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:131268915C>T	uc011blq.2	-	13	1342	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	CPNE4_uc003eok.3_Missense_Mutation_p.G393E|CPNE4_uc003eol.3_Missense_Mutation_p.G411E|CPNE4_uc003eom.3_Missense_Mutation_p.G393E	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	393	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCACAACTCCTTGAATTCC	0.448000														13			19		0	0	0.007413	0	0
RGS14	10636	broad.mit.edu	37	5	176799073	176799073	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:176799073C>T	uc003mgh.3	+	14	1883	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	RGS14_uc003mgf.3_Silent_p.L566L|RGS14_uc003mgi.3_Silent_p.L337L	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	566					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCAGCCCTCTGACAGCTAC	0.652000														68			34		0	0	0.012213	0	0
DNHD1	144132	broad.mit.edu	37	11	6588975	6588975	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:6588975T>A	uc001mdw.4	+	35	12800	c.12236T>A	c.(12235-12237)tTt>tAt	p.F4079Y	DNHD1_uc001mea.4_Missense_Mutation_p.F348Y|DNHD1_uc001meb.3_Missense_Mutation_p.F347Y|DNHD1_uc001mec.3_Missense_Mutation_p.F347Y|DNHD1_uc010rao.2_Missense_Mutation_p.F337Y|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4079					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCATGCCCTTTAAACATAGT	0.582000														36			28		0	0	0.006320	0	0
MORC1	27136	broad.mit.edu	37	3	108682411	108682411	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:108682411C>T	uc003dxl.3	-	26	2736	c.2649G>A	c.(2647-2649)agG>agA	p.R883R	MORC1_uc011bhn.2_Silent_p.R862R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	883					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACTGCAATTTCCTCTTTATTT	0.294000														14			12		0	0	0.001855	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105462511	105462511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:105462511C>T	uc001tlc.3	-	3	707	c.580G>A	c.(580-582)Gga>Aga	p.G194R	ALDH1L2_uc009zuo.3_5'Flank|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	194	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGATTCCTTCAGGAAAA	0.343000														21			23		0	0	0.005443	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730878	30730878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:30730878G>A	uc002wxj.2	+	5	857	c.622G>A	c.(622-624)Gag>Aag	p.E208K	TM9SF4_uc010ztr.1_Missense_Mutation_p.E134K|TM9SF4_uc010zts.1_Missense_Mutation_p.E115K|TM9SF4_uc002wxk.2_Missense_Mutation_p.E191K	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	208						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCCGCTTCGAGGTGATTCC	0.597000														54			15		0	0	0.004990	0	0
NDN	4692	broad.mit.edu	37	15	23931429	23931429	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:23931429G>A	uc001ywk.3	-	0	1022	c.936C>T	c.(934-936)caC>caT	p.H312H		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	312					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCGAGGGTAGTGGGCAGTGG	0.592000									Prader-Willi syndrome					59			32		0	0	0.010818	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414193	22414193	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:22414193C>T	uc001yuf.3	+	0	732	c.492C>T	c.(490-492)atC>atT	p.I164I	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CCACCCATATCATTGTTATAT	0.488000														77			16		0	0	0.004007	0	0
RTP1	132112	broad.mit.edu	37	3	186915444	186915444	+	Silent	SNP	G	A	A	rs141573394		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:186915444G>A	uc003frg.3	+	0	171	c.141G>A	c.(139-141)aaG>aaA	p.K47K		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	47					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ATGAGTGGAAGAAAGTCTTCT	0.517000														19			22		0	0	0.010504	0	0
SLC9A3	6550	broad.mit.edu	37	5	477530	477530	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:477530G>A	uc003jbe.2	-	10	1789	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	SLC9A3_uc011clx.1_Silent_p.I550I|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	559						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGGGGAGCGGATGAAGGCCA	0.647000														27			10		0	0	0.010729	0	0
LOXL2	4017	broad.mit.edu	37	8	23179780	23179780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:23179780G>A	uc003xdh.1	-	6	1504	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	LOXL2_uc010lty.1_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	389	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCGTTGAGGTGGATGGGTCCG	0.493000														24			11		0	0	0.013537	0	0
PKP4	8502	broad.mit.edu	37	2	159490799	159490799	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:159490799C>T	uc002tzv.3	+	8	1820	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	PKP4_uc002tzt.1_Silent_p.P372P|PKP4_uc002tzu.3_Silent_p.P520P|PKP4_uc002tzw.3_Silent_p.P520P|PKP4_uc002tzx.3_Silent_p.P177P|PKP4_uc002tzy.1_Silent_p.P178P|PKP4_uc002tzz.1_Silent_p.P518P|PKP4_uc002uaa.3_Silent_p.P372P	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	520					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						AGAAGGACCCCAGGCGAGTAC	0.463000										HNSCC(62;0.18)				54			31		0	0	0.009535	0	0
DNAH5	1767	broad.mit.edu	37	5	13766162	13766162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:13766162C>T	uc003jfd.2	-	58	10066	c.10024G>A	c.(10024-10026)Gaa>Aaa	p.E3342K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3342	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCTTTTTTCCAGGTCAATT	0.488000									Kartagener syndrome					110			35		0	0	0.012213	0	0
FOXN1	8456	broad.mit.edu	37	17	26851891	26851891	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:26851891T>G	uc010crm.3	+	2	692	c.494T>G	c.(493-495)gTg>gGg	p.V165G	FOXN1_uc002hbj.3_Missense_Mutation_p.V165G	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	165					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCAGTGGACGTGGCGGAGGCC	0.657000														35			5		0	0	0.001168	0	0
SI	6476	broad.mit.edu	37	3	164758861	164758861	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:164758861C>A	uc003fei.3	-	17	2089	c.2026G>T	c.(2026-2028)Ggg>Tgg	p.G676W		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	676	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAATTCTGCCCAAAAAATGCA	0.333000										HNSCC(35;0.089)				38			22		5.61819e-17	6.42906e-17	0.005443	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107398	107398	+	RNA	SNP	A	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrGL000211.1:107398A>G	uc003boa.3	+	4		c.938A>G								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GCACTGGACAAGGTATAGATC	0.383000														118			10		0	0	0.002450	0	0
C19orf75	284369	broad.mit.edu	37	19	51768738	51768738	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:51768738G>A	uc002pwb.1	+	2	520	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	47						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						AGTCCCCGTGGGTGTGGATGG	0.572000														42			23		0	0	0.004656	0	0
SAMD9	54809	broad.mit.edu	37	7	92733358	92733358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:92733358G>A	uc003umf.3	-	2	2323	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R685*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R685*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	685						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCACCTCGATAGAAGTCT	0.358000														130			25		0	0	0.003330	0	0
RPS14	6208	broad.mit.edu	37	5	149826385	149826385	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:149826385G>A	uc003lsh.3	-	2	564	c.291C>T	c.(289-291)ctC>ctT	p.L97L	RPS14_uc003lsi.3_Silent_p.L97L|RPS14_uc003lsj.3_Silent_p.L97L	NM_001025071	NP_005608	P62263	RS14_HUMAN	Homo sapiens ribosomal protein S14 (RPS14), transcript variant 1, mRNA.	97					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCCCGGAGTTTGATGT	0.572000														39			20		0	0	0.014323	0	0
GRID2	2895	broad.mit.edu	37	4	94138038	94138038	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:94138038G>A	uc011cdt.2	+	5	1197	c.939G>A	c.(937-939)aaG>aaA	p.K313K	GRID2_uc010ikx.3_Silent_p.K313K|GRID2_uc011cdu.2_Silent_p.K218K|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	313					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.K313Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGATCCAAAGGATCCATTTG	0.418000														53			20		0	0	0.010504	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419969	19419969	+	RNA	SNP	T	C	C	rs76149397		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:19419969T>C	uc010tcj.1	-	0		c.26141A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GACAAATTCATTGGTTTAGTT	0.303000														50			7		0	0	0.008291	0	0
BTBD8	284697	broad.mit.edu	37	1	92573455	92573455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:92573455G>A	uc001doo.3	+	3	826	c.559G>A	c.(559-561)Gag>Aag	p.E187K	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	187						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTATGACTTGGAGCCTGCATC	0.289000														17			5		0	0	0.001168	0	0
ENPP1	5167	broad.mit.edu	37	6	132201156	132201156	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:132201156C>T	uc011ecf.2	+	19	2102	c.2082C>T	c.(2080-2082)tcC>tcT	p.S694S		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	694	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTGGACATCCTATACCGTGG	0.403000														37			29		0	0	0.006320	0	0
SCG3	29106	broad.mit.edu	37	15	51993429	51993429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:51993429G>A	uc002abh.3	+	9	1598	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	SCG3_uc010ufz.2_Missense_Mutation_p.D167N	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	399					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAAAGACAGATGAACCCAA	0.438000														42			13		0	0	0.001855	0	0
RBM47	54502	broad.mit.edu	37	4	40440254	40440254	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:40440254G>A	uc003gvc.2	-	3	1367	c.657C>T	c.(655-657)atC>atT	p.I219I	RBM47_uc003gvd.2_Silent_p.I219I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.I181I|RBM47_uc003gvg.1_Silent_p.I219I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	219	RRM 2.					nucleus	RNA binding|nucleotide binding	p.R218H(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCACAGCTGGATGCGGCCAG	0.657000														42			17		0	0	0.004990	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411538	79411538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:79411538C>T	uc002kaf.2	+	5	2270	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	BAHCC1_uc002kae.2_Missense_Mutation_p.P18L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	819							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CACCCCCATCCCCCCTGGCTG	0.731000														4			3		0	0	0.004672	0	0
OR10G9	219870	broad.mit.edu	37	11	123894487	123894487	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:123894487C>T	uc010sad.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		CCTGTGTTTTCATTTACCTGA	0.542000														6			46		0	0	0.014410	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627508	43627508	+	Silent	SNP	G	T	T	rs142831593	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:43627508G>T	uc011lrb.2	-	3	1208	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	393						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TCTGAGGTCCGGGCAGCTGTT	0.498000														270			82		1.8615e-32	2.15236e-32	0.014410	1	0
THSD4	79875	broad.mit.edu	37	15	71447214	71447214	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:71447214C>T	uc002atb.1	+	1	121	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	14						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCTGTGTTTCCTTCTGCTGC	0.542000														64			21		0	0	0.010504	0	0
EPHB2	2048	broad.mit.edu	37	1	23111152	23111152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:23111152G>A	uc009vqj.1	+	2	539	c.394G>A	c.(394-396)Gag>Aag	p.E132K	EPHB2_uc001bge.3_Missense_Mutation_p.E132K|EPHB2_uc001bgf.3_Missense_Mutation_p.E132K|EPHB2_uc010odu.2_Missense_Mutation_p.E132K	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	132					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAACTGGATGGAGAATCCATG	0.572000														22			7		0	0	0.004482	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419967	19419967	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:19419967C>T	uc010tcj.1	-	0		c.26143G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGACAAATTCATTGGTTTAG	0.299000														55			6		0	0	0.003080	0	0
CDH2	1000	broad.mit.edu	37	18	25565588	25565588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:25565588C>T	uc002kwg.2	-	11	2338	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	CDH2_uc010xbn.1_Missense_Mutation_p.D596N	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	627	Cadherin 5.				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			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						ATGTCATAATCAAGTGCTGTA	0.383000														49			14		0	0	0.002450	0	0
FAM111B	374393	broad.mit.edu	37	11	58892632	58892632	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:58892632C>T	uc001nnl.3	+	3	1305	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	FAM111B_uc001nnm.3_Silent_p.P324P|FAM111B_uc010rko.2_Silent_p.P324P|FAM111B_uc021qjn.1_Silent_p.P324P	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	354							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAGTTTGCCCCGAAAATATA	0.403000														41			27		0	0	0.006320	0	0
KCNK1	3775	broad.mit.edu	37	1	233807111	233807111	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:233807111G>A	uc010pxo.1	+	2	1014	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGTTCTATGTGAAGAAGGACA	0.463000														16			17		0	0	0.004007	0	0
RAB25	57111	broad.mit.edu	37	1	156038242	156038242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:156038242C>T	uc001fnc.3	+	2	647	c.421C>T	c.(421-423)Cga>Tga	p.R141*		NM_020387	NP_065120	P57735	RAB25_HUMAN	Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.	141					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGAGGAGGCCCGAATGTTCGC	0.602000														28			20		0	0	0.012319	0	0
TRIO	7204	broad.mit.edu	37	5	14488282	14488282	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:14488282C>T	uc003jff.3	+	47	7551	c.7545C>T	c.(7543-7545)cgC>cgT	p.R2515R	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Silent_p.R2164R	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2515					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACACCCCGCCACGCGGCCC	0.711000														19			6		0	0	0.001984	0	0
FAM71A	149647	broad.mit.edu	37	1	212800072	212800072	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:212800072C>T	uc010pth.1	-	0		c.42G>A			FAM71A_uc001hjk.3_3'UTR			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AAAGCCTATTCCAGCGTTCTT	0.483000														26			8		0	0	0.003080	0	0
ASTN1	460	broad.mit.edu	37	1	176863806	176863806	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:176863806G>A	uc001glc.3	-	16	3044	c.2832C>T	c.(2830-2832)ccC>ccT	p.P944P	ASTN1_uc001glb.1_Silent_p.P944P|ASTN1_uc001gld.1_Silent_p.P944P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	952					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATGACACAGGGGGCAGGACG	0.592000														44			33		0	0	0.013726	0	0
CROCC	9696	broad.mit.edu	37	1	17274870	17274871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:17274870_17274871CC>TT	uc001azt.2	+	17	2628_2629	c.2559_2560CC>TT	c.(2557-2562)gcccgg>gcTTgg	p.R854W	CROCC_uc009voz.1_Intron|CROCC_uc001azu.2_Missense_Mutation_p.R157W	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	854					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGAGCAGGCCCGGCGGGAGGC	0.713000														11			4		0	0	0.004672	0	0
SCARF1	8578	broad.mit.edu	37	17	1543935	1543935	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:1543935G>A	uc002fsz.1	-	4	867	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	SCARF1_uc002fsy.1_Missense_Mutation_p.P273S|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.P273S	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	273					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGAGCACGGCTCATTGTGT	0.652000														9			5		0	0	0.001168	0	0
C9orf9	11092	broad.mit.edu	37	9	135763892	135763892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:135763892C>T	uc004cbz.1	+	3	712	c.563C>T	c.(562-564)aCc>aTc	p.T188I	C9orf9_uc004cbx.1_Missense_Mutation_p.T188I|C9orf9_uc004cby.1_Intron	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	188								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCCATAGGGACCCAGCCCAGG	0.622000														1			4		0	0	0.009096	0	0
OR2C3	81472	broad.mit.edu	37	1	247694992	247694992	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:247694992G>A	uc021pmb.1	-	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.F274F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACAGAGCTATGAACTTGCCCT	0.537000														48			20		0	0	0.010504	0	0
IMPA2	3613	broad.mit.edu	37	18	12028052	12028052	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:12028052G>A	uc002kqp.2	+	5	743	c.501G>A	c.(499-501)aaG>aaA	p.K167K	IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	167					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	ATCTCTCAAAGGCCTTGGTTC	0.488000														67			10		0	0	0.013537	0	0
IGH	0	broad.mit.edu	37	16	31973428	31973428	+	RNA	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:31973428C>T	uc002ect.3	+	0		c.20C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		CTGGTGGAGTCTGGGGGAGGC	0.567000														11			12		0	0	0.008871	0	0
STK31	56164	broad.mit.edu	37	7	23808778	23808778	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:23808778C>T	uc003sws.4	+	11	1648	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	STK31_uc003swt.4_Silent_p.F504F|STK31_uc011jze.2_Silent_p.F527F|STK31_uc010kuq.3_Silent_p.F504F	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	527							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.W526L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGCATGGTTCCAAAGAACCT	0.388000														17			41		0	0	0.007835	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:67694198G>A	uc002etq.4	-	0	521	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ACD_uc002etp.4_Missense_Mutation_p.L62F|ACD_uc002etr.4_Missense_Mutation_p.L62F|ACD_uc010vjt.1_Missense_Mutation_p.L52F|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(2)|p.P61S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736000														11			6		0	0	0.001168	0	0
IDUA	3425	broad.mit.edu	37	4	995790	995790	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:995790C>T	uc003gby.3	+	6	901	c.813C>T	c.(811-813)tcC>tcT	p.S271S	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Missense_Mutation_p.H258Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	271					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GCTCCATCTCCATCCTGGAGC	0.711000														7			3		0	0	0.004672	0	0
H2AFX	3014	broad.mit.edu	37	11	118965764	118965764	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:118965764G>A	uc001pvg.3	-	0	414	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_002105	NP_002096	P16104	H2AX_HUMAN	Homo sapiens H2A histone family, member X (H2AFX), mRNA.	114					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CAGCAGCACGGCCTGGATGTT	0.701000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			28		0	0	0.004656	0	0
HMCN1	83872	broad.mit.edu	37	1	185970530	185970530	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:185970530C>T	uc001grq.1	+	26	4399	c.4170C>T	c.(4168-4170)ccC>ccT	p.P1390P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1390	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCCATCTCCCATCATTATGT	0.383000														25			11		0	0	0.008291	0	0
MED12L	116931	broad.mit.edu	37	3	151082983	151082983	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:151082983G>A	uc003eyp.3	+	19	3198	c.3069G>A	c.(3067-3069)caG>caA	p.Q1023Q	MED12L_uc011bnz.2_Silent_p.Q883Q|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.Q186Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1023					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)			TGGGCCATCAGGATGCTGGCA	0.458000														31			19		0	0	0.006122	0	0
CSMD2	114784	broad.mit.edu	37	1	34101975	34101975	+	Silent	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:34101975G>T	uc001bxm.1	-	29	5131	c.4954C>A	c.(4954-4956)Cgg>Agg	p.R1652R	CSMD2_uc001bxn.1_Silent_p.R1612R|CSMD2_uc001bxo.1_Silent_p.R525R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1612	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGACTGGCCGGGGATTGTTC	0.657000														2			7		2.0095e-06	2.22166e-06	0.001984	1	0
GTF3C1	2975	broad.mit.edu	37	16	27519956	27519956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:27519956C>T	uc002dov.2	-	7	1187	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R	GTF3C1_uc002dou.3_Missense_Mutation_p.G383R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	383						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGAAATTCCTTTCGTGCCT	0.458000														18			10		0	0	0.010729	0	0
CEP250	11190	broad.mit.edu	37	20	34090736	34090736	+	Silent	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:34090736C>A	uc021wco.1	+	29	5186	c.4539C>A	c.(4537-4539)ctC>ctA	p.L1513L	CEP250_uc010zve.2_Silent_p.L881L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1513	Gln/Glu-rich.			L -> P (in Ref. 1; AAC06349).	G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCAGAGAGCTCGAGAAGGATC	0.522000														70			4		0.00909568	0.00993721	0.009096	1	0
DNAH8	1769	broad.mit.edu	37	6	38790634	38790634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:38790634C>T	uc021yzh.1	+	26	3653	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S	DNAH8_uc003ooe.2_Missense_Mutation_p.P965S	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						AGAAGCTATTCCTGCGAGGAA	0.343000														21			4		0	0	0.009096	0	0
LRRC49	54839	broad.mit.edu	37	15	71197069	71197069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:71197069C>T	uc010ukf.2	+	4	796	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	LRRC49_uc002asu.3_Missense_Mutation_p.R149C|LRRC49_uc002asx.3_Missense_Mutation_p.R115C|LRRC49_uc002asw.3_Missense_Mutation_p.R159C|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.R131C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	159						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAGATGTCTTCGTGTCCTTCT	0.348000														91			16		0	0	0.004007	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100447	139100447	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:139100447G>A	uc021xrw.1	-	10	1648	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	456					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CAGTCAGAGTGATGACGAAGC	0.433000														29			15		0	0	0.003163	0	0
ZNF135	7694	broad.mit.edu	37	19	58579197	58579197	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:58579197C>T	uc002qrg.3	+	3	1420	c.1417C>T	c.(1417-1419)Cac>Tac	p.H473Y	ZNF135_uc002qre.3_Missense_Mutation_p.H449Y|ZNF135_uc002qrf.3_Missense_Mutation_p.H407Y|ZNF135_uc010yhq.2_Missense_Mutation_p.H461Y|ZNF135_uc010yhr.2_Missense_Mutation_p.H270Y|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	461					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AACCTTCAGCCACAGCTCCTC	0.567000														27			9		0	0	0.004482	0	0
HERC2	8924	broad.mit.edu	37	15	28419645	28419645	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:28419645G>A	uc001zbj.3	-	64	10059	c.9953C>T	c.(9952-9954)tCg>tTg	p.S3318L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3318					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			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)		ACTGTGGGACGACCCACAAGC	0.597000														42			9		0	0	0.006214	0	0
NXNL1	115861	broad.mit.edu	37	19	17571430	17571430	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:17571430C>T	uc002ngs.3	-	0	296	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	83	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCTGCTCCTCCGTGGAGTCCT	0.582000														52			16		0	0	0.004007	0	0
GPRC5D	55507	broad.mit.edu	37	12	13103121	13103121	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:13103121G>A	uc010shp.2	-	0	198	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	66						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CACTCAGGAGGAAGAGGAGCT	0.522000														35			13		0	0	0.001855	0	0
PXDN	7837	broad.mit.edu	37	2	1647273	1647273	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:1647273G>A	uc002qxa.3	-	18	3883	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1273					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGTCGCATAGGATCCTGGCCA	0.612000														51			19		0	0	0.012319	0	0
GTPBP5	26164	broad.mit.edu	37	20	60773899	60773899	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:60773899C>T	uc002yce.4	+	4	716	c.678C>T	c.(676-678)caC>caT	p.H226H	GTPBP5_uc011aaf.2_Intron|GTPBP5_uc011aab.2_5'UTR|GTPBP5_uc011aac.2_5'UTR|GTPBP5_uc011aad.2_5'UTR|GTPBP5_uc011aae.2_5'UTR	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	226	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			CGGTGGCCCACGCCGGAATGG	0.577000														48			11		0	0	0.013537	0	0
ODZ2	57451	broad.mit.edu	37	5	167420093	167420093	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:167420093G>A	uc010jjd.3	+	4	1092	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	ODZ2_uc021yhi.1_Silent_p.L294L|ODZ2_uc003lzq.2_Silent_p.L243L|ODZ2_uc003lzr.4_Silent_p.L173L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.Q364H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTTTCAAGCTGAAGAAGCCCT	0.567000														34			21		0	0	0.012319	0	0
RYR2	6262	broad.mit.edu	37	1	237948243	237948243	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:237948243C>T	uc001hyl.1	+	89	13351	c.13231C>T	c.(13231-13233)Ccc>Tcc	p.P4411S	RYR2_uc010pya.2_Missense_Mutation_p.P826S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4411					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACCCAGTCCCCATGCCTGA	0.453000														6			4		0	0	0.009096	0	0
OR2A5	393046	broad.mit.edu	37	7	143748157	143748157	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:143748157C>T	uc011ktw.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACTCGCGCATCCTGGCGGCCA	0.612000														122			35		0	0	0.004289	0	0
COL4A5	1287	broad.mit.edu	37	X	107911599	107911599	+	Missense_Mutation	SNP	C	T	T	rs104886391		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:107911599C>T	uc022ccg.1	+	40	3857	c.3655C>T	c.(3655-3657)Cca>Tca	p.P1219S	COL4A5_uc004enz.1_Missense_Mutation_p.P1219S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1219	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGCCTTCCAGGTCCAAA	0.512000									Alport syndrome with Diffuse Leiomyomatosis					0			33		0	0	0.003271	0	0
ANKMY2	57037	broad.mit.edu	37	7	16649314	16649314	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:16649314G>A	uc003sti.3	-	6	1067	c.823C>T	c.(823-825)Cct>Tct	p.P275S	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	275						cilium	zinc ion binding	p.F274V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCACAGTAAGGAAATTTTCTG	0.393000														35			13		0	0	0.013537	0	0
TIE1	7075	broad.mit.edu	37	1	43772659	43772659	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:43772659C>T	uc001ciu.3	+	3	810	c.633C>T	c.(631-633)atC>atT	p.I211I	TIE1_uc010okd.2_Silent_p.I211I|TIE1_uc010oke.2_Silent_p.I166I|TIE1_uc009vwq.3_Silent_p.I211I|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010okb.2_Silent_p.I211I|TIE1_uc010okc.2_Silent_p.I211I	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	211					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCGGCTCATCGTGCGGGGTC	0.637000														25			41		0	0	0.014410	0	0
MLH3	27030	broad.mit.edu	37	14	75513677	75513677	+	Silent	SNP	A	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:75513677A>G	uc001xrd.1	-	1	2898	c.2682T>C	c.(2680-2682)agT>agC	p.S894S	MLH3_uc001xre.1_Silent_p.S894S|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	894					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.M893I(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATTAAAACGACTCATCATCC	0.378000								Mismatch excision repair (MMR)						101			38		0	0	0.006230	0	0
CDC14C	168448	broad.mit.edu	37	7	48965179	48965179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:48965179G>A	uc010kyv.1	+	0	1023	c.911G>A	c.(910-912)aGg>aAg	p.R304K						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		AAGCATTACAGGATGACAGCA	0.512000														15			4		0	0	0.009096	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883913	4883913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:4883913G>A	uc010cku.2	-	8	1185	c.773C>T	c.(772-774)tCt>tTt	p.S258F	CAMTA2_uc002gag.2_Missense_Mutation_p.S234F|CAMTA2_uc002gah.2_Missense_Mutation_p.S235F|CAMTA2_uc002gai.2_Missense_Mutation_p.S237F|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.2_Missense_Mutation_p.S48F	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	235					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGGCTCCCAGAACCTGGAGT	0.542000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			30		0	0	0.007291	0	0
HIBADH	11112	broad.mit.edu	37	7	27570860	27570860	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:27570860G>A	uc003szf.3	-	6	1016	c.803C>T	c.(802-804)cCc>cTc	p.P268L	HIBADH_uc003szg.3_Missense_Mutation_p.P219L	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	268					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ATTAGCCGAGGGAACGCCATC	0.448000														442			111		0	0	0.014410	0	0
COL4A1	1282	broad.mit.edu	37	13	110850846	110850846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:110850846G>A	uc001vqw.4	-	20	1375	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	418	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)			GGGCCCAGGGGAACCAGGAGG	0.592000														72			23		0	0	0.006320	0	0
ITGAL	3683	broad.mit.edu	37	16	30516614	30516615	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:30516614_30516615CC>TT	uc002dyi.4	+	18	2461_2462	c.2285_2286CC>TT	c.(2284-2286)acc>aTT	p.T762I	ITGAL_uc002dyj.4_Missense_Mutation_p.T678I|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.	762					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)	CACTCGGAAACCTGGGAGGTAA	0.574000														18			11		0	0	0.004672	0	0
C12orf36	283422	broad.mit.edu	37	12	13529218	13529218	+	Missense_Mutation	SNP	C	T	T	rs149562504	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:13529218C>T	uc001rbs.2	-	1	374	c.122G>A	c.(121-123)cGa>cAa	p.R41Q						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gtcagcccttcgtttcagagg	0.522000														32			16		0	0	0.004007	0	0
LAMC2	3918	broad.mit.edu	37	1	183192282	183192282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:183192282G>A	uc001gqa.2	+	6	1090	c.776G>A	c.(775-777)gGg>gAg	p.G259E	LAMC2_uc001gpz.4_Missense_Mutation_p.G259E|LAMC2_uc010poa.2_Intron	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	259	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.G259V(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAATTTCTTGGGAATCAACAG	0.463000														23			9		0	0	0.006214	0	0
NDST4	64579	broad.mit.edu	37	4	115998003	115998003	+	Missense_Mutation	SNP	C	T	T	rs148107560		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:115998003C>T	uc003ibu.3	-	1	869	c.190G>A	c.(190-192)Gag>Aag	p.E64K	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	64	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E64K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTTTCAGCTCCATTGACCTA	0.413000														20			36		0	0	0.003755	0	0
C3P1	388503	broad.mit.edu	37	19	10169315	10169315	+	RNA	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:10169315G>A	uc010dwx.2	+	16		c.2102G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATGAGGGAAAGGAGTTGTGCA	0.552000														36			15		0	0	0.002450	0	0
CYP3A4	1576	broad.mit.edu	37	7	99355805	99355805	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:99355805G>A	uc003urv.2	-	12	1570	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	CYP3A4_uc003urw.2_Missense_Mutation_p.P487L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P447L	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	488					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	p.K487K(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TAGAACAACGGGTTTTTCTGG	0.408000														28			48		0	0	0.014410	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627062	140627062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140627062G>A	uc003lje.3	+	0	1916	c.1916G>A	c.(1915-1917)aGg>aAg	p.R639K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	639	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAAGCACAGGCTAGTGGTG	0.692000														46			29		0	0	0.006320	0	0
DOCK2	1794	broad.mit.edu	37	5	169141072	169141072	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:169141072C>A	uc003maf.3	+	17	1780	c.1700C>A	c.(1699-1701)aCc>aAc	p.T567N	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T59N|DOCK2_uc010jjl.1_Missense_Mutation_p.T85N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	567	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATACCTGACCCTTCCTTCT	0.572000														50			17		1.2644e-06	1.40069e-06	0.010504	1	0
ELN	2006	broad.mit.edu	37	7	73467555	73467555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:73467555G>A	uc003tzw.3	+	17	1103	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.G338R|ELN_uc003tzy.3_Missense_Mutation_p.G333R|ELN_uc003tzz.3_Missense_Mutation_p.G302R|ELN_uc003tzo.3_Missense_Mutation_p.G324R|ELN_uc003tzp.3_Missense_Mutation_p.G294R|ELN_uc003tzq.3_Missense_Mutation_p.G221R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G338R|ELN_uc003tzt.3_Missense_Mutation_p.G343R|ELN_uc003tzu.3_Missense_Mutation_p.G343R|ELN_uc003tzv.3_Missense_Mutation_p.G328R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G328R|ELN_uc011kff.2_Missense_Mutation_p.G338R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	338	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGTGTCCCAGGAGCTGGCGT	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							60			10		0	0	0.008291	0	0
CBLB	868	broad.mit.edu	37	3	105421045	105421045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:105421045C>T	uc003dwc.3	-	11	2174	c.1852G>A	c.(1852-1854)Gga>Aga	p.G618R	CBLB_uc011bhi.2_Missense_Mutation_p.G640R|CBLB_uc003dwd.2_Missense_Mutation_p.G618R|CBLB_uc003dwe.2_Missense_Mutation_p.G618R	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	618	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCTGTGATTCCAGGTTTTGGA	0.527000			Mis S		AML									26			31		0	0	0.007291	0	0
LAMA2	3908	broad.mit.edu	37	6	129465130	129465130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:129465130C>T	uc021zfb.1	+	4	829	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	LAMA2_uc003qbn.3_Missense_Mutation_p.R242C|LAMA2_uc003qbo.3_Missense_Mutation_p.R242C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	242	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R242C(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGCTATATTCGCCTGAGATT	0.433000														11			11		0	0	0.010729	0	0
ZNF443	10224	broad.mit.edu	37	19	12541138	12541138	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:12541138A>C	uc002mtu.3	-	3	2046	c.1848T>G	c.(1846-1848)taT>taG	p.Y616*		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	616					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCTTACATTCATACGGGTTCT	0.403000														61			16		0	0	0.010504	0	0
SSFA2	6744	broad.mit.edu	37	2	182766501	182766501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:182766501C>T	uc002uoi.3	+	7	1043	c.721C>T	c.(721-723)Cgt>Tgt	p.R241C	SSFA2_uc002uoh.3_Missense_Mutation_p.R241C|SSFA2_uc002uoj.3_Missense_Mutation_p.R241C|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.R88C|SSFA2_uc002uol.3_Missense_Mutation_p.R88C	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	241						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGGCCGTTTTCGTCAAATTGA	0.328000														3			33		0	0	0.013726	0	0
PVRL2	5819	broad.mit.edu	37	19	45377707	45377707	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:45377707C>T	uc002ozw.1	+	4	1404	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	PVRL2_uc002ozv.3_Silent_p.G338G	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	338	Ig-like C2-type 2.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|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|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGGCATGGGCCGCGCTGAGC	0.632000														260			60		0	0	0.014410	0	0
PAX1	5075	broad.mit.edu	37	20	21695183	21695183	+	Silent	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:21695183C>T	uc002wsj.2	+	4	1401	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	PAX1_uc010zsl.2_Missense_Mutation_p.P453S|PAX1_uc010zsm.2_Missense_Mutation_p.P429S	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	449					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACTGCCCATCCCGGCCTCGAC	0.726000														11			3		0	0	0.009096	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34024066	34024066	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:34024066C>T	uc003jio.3	-	4	889	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	C1QTNF3_uc003jim.3_Missense_Mutation_p.E57K|C1QTNF3_uc003jin.3_Missense_Mutation_p.E177K	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	177						collagen		p.E249D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ACATACACTTCCTCAACATCC	0.413000														41			15		0	0	0.008871	0	0
KCNB2	9312	broad.mit.edu	37	8	73848253	73848253	+	Silent	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:73848253G>A	uc003xzb.3	+	2	1251	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	221					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)			TGCAGGAAACGGACGAATTTG	0.468000														63			25		0	0	0.002780	0	0
FAT4	79633	broad.mit.edu	37	4	126237755	126237755	+	Silent	SNP	C	G	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:126237755C>G	uc003ifj.4	+	0	189	c.189C>G	c.(187-189)acC>acG	p.T63T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTAGGCACCATCCAGACGC	0.632000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			19		0	0	0.008871	0	0
C6orf89	221477	broad.mit.edu	37	6	36884343	36884343	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:36884343G>T	uc003omw.3	+	5	1002	c.839G>T	c.(838-840)gGg>gTg	p.G280V	C6orf89_uc003omv.3_Missense_Mutation_p.G167V|C6orf89_uc003omx.3_Missense_Mutation_p.G273V|C6orf89_uc011dtr.2_Missense_Mutation_p.G167V	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	273						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCTGTTGTGGGGAGTAAGGTA	0.423000														24			12		0.00010058	0.000110758	0.013537	1	0
CPM	1368	broad.mit.edu	37	12	69265724	69265724	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:69265724C>A	uc001sup.3	-	3	332	c.271G>T	c.(271-273)Gag>Tag	p.E91*	CPM_uc001sur.3_Nonsense_Mutation_p.E91*|CPM_uc001suq.3_Nonsense_Mutation_p.E91*	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	91					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	p.R90W(1)|p.R90L(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGCAGCAGCTCCCGCCCAACA	0.448000														37			16		0.000308642	0.000339201	0.003163	1	0
CYB561	1534	broad.mit.edu	37	17	61513423	61513423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:61513423G>A	uc002jaq.3	-	2	454	c.431C>T	c.(430-432)gCc>gTc	p.A144V	CYB561_uc002jap.3_Missense_Mutation_p.A98V|CYB561_uc002jar.3_Missense_Mutation_p.A98V|CYB561_uc002jas.3_Missense_Mutation_p.A98V|CYB561_uc010ddt.3_Missense_Mutation_p.A98V|CYB561_uc002jat.3_Missense_Mutation_p.A98V|CYB561_uc010wpf.2_Missense_Mutation_p.A98V|CYB561_uc010wpg.2_Missense_Mutation_p.A69V	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	98	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ACCAACCAGGGCGATGACGAG	0.627000														39			12		0	0	0.001855	0	0
STAB2	55576	broad.mit.edu	37	12	104144483	104144483	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:104144483G>A	uc001tjw.3	+	59	6751	c.6565G>A	c.(6565-6567)Gac>Aac	p.D2189N	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2189					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAAATGTGTCGACCTCCACTT	0.562000														21			8		0	0	0.003080	0	0
STXBP4	252983	broad.mit.edu	37	17	53084924	53084924	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:53084924C>T	uc002iuf.1	+	7	839	c.632C>T	c.(631-633)cCc>cTc	p.P211L	STXBP4_uc010dcc.1_Missense_Mutation_p.P136L|STXBP4_uc010dcd.1_Missense_Mutation_p.P211L	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	211						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TCCCTAAATCCCTCTGTTCGC	0.368000														230			97		0	0	0.014410	0	0
DEM1	64789	broad.mit.edu	37	1	40980327	40980328	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:40980327_40980328delAA	uc001cfp.3	+	2	316_317	c.111_112delAA	c.(109-114)tcaaagfs	p.S37fs	DEM1_uc001cfq.3_Frame_Shift_Del_p.S37fs|DEM1_uc001cfr.3_Frame_Shift_Del_p.S37fs|DEM1_uc021omb.1_Frame_Shift_Del_p.S37fs	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	37							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						CCCAAGAGTCAAAGGCTTTAGT	0.455													---	64	---	---	15	---					
TMEM14B	81853	broad.mit.edu	37	6	10751386	10751404	+	Frame_Shift_Del	DEL	GCAGGGCTGCTCTTCGGCA	-	-	rs17849403	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:10751386_10751404delGCAGGGCTGCTCTTCGGCA	uc003mzk.4	+	3	285_303	c.121_139delGCAGGGCTGCTCTTCGGCA	c.(121-141)gcagggctgctcttcggcagtfs	p.A41fs	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.3_Intron|TMEM14B_uc010jos.1_Intron	NM_030969	NP_112231	Q9NUH8	TM14B_HUMAN	Homo sapiens transmembrane protein 14B (TMEM14B), transcript variant 1, mRNA.	41						integral to membrane		p.A40S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GTCCCTGGCTGCAGGGCTGCTCTTCGGCAGTCTAGCCGG	0.543													---	53	---	---	12	---					
LOC642236	642236	broad.mit.edu	37	9	68433481	68433482	+	RNA	INS	-	CTC	CTC	rs112175502		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:68433481_68433482insCTC	uc022bht.1	-	5		c.740_741insGAG								Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		CATTTCTTCTTCTGCTGTTTTA	0.342													---	11	---	---	7	---					
CUBN	8029	broad.mit.edu	37	10	17110650	17110652	+	In_Frame_Del	DEL	AGA	-	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:17110650_17110652delAGA	uc001ioo.3	-	19	2795_2797	c.2743_2745delTCT	c.(2743-2745)tctdel	p.S915del		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	915	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTTTCAGTAGAAGAACTTTTC	0.365													---	11	---	---	76	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:45247389delT	uc002ile.4	-	3	398	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													---	105	---	---	7	---					
ZNF573	126231	broad.mit.edu	37	19	38229202	38229203	+	Splice_Site	DEL	TC	-	-	rs74268405		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:38229202_38229203delTC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTTCTTAATTTACC	0.332													---	9	---	---	5	---